# annotation

uniprotID: P27658
geneSymbol: COL8A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-2022090;R-HSA-216083;R-HSA-8948216;
name: Collagen alpha-1(VIII) chain (Endothelial collagen) [Cleaved into: Vastatin]
length: 744
go: ENSG00000144810;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
sequence:

opentargets:
collagen type VIII trimer [GO:0005591]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; angiogenesis [GO:0001525]; camera-type eye morphogenesis [GO:0048593]; cell adhesion [GO:0007155]; endodermal cell differentiation [GO:0035987]; epithelial cell proliferation [GO:0050673]; extracellular matrix organization [GO:0030198]; positive regulation of cell-substrate adhesion [GO:0010811]


uniprotID: P25067
geneSymbol: COL8A2
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-2022090;R-HSA-216083;R-HSA-8948216;
name: Collagen alpha-2(VIII) chain (Endothelial collagen)
length: 703
go: ENSG00000171812;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
sequence:

opentargets:
basement membrane [GO:0005604]; collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; protein binding, bridging [GO:0030674]; angiogenesis [GO:0001525]; camera-type eye morphogenesis [GO:0048593]; cell-cell adhesion [GO:0098609]; epithelial cell proliferation [GO:0050673]; extracellular matrix organization [GO:0030198]

snps:
rs115156902 rs75864656 rs369487110 rs199786966 rs201235688 rs80358191 rs117860804 rs145553904 rs200767854 


uniprotID: Q6UXB2
geneSymbol: CXCL17
length: 119
go: ENSG00000189377;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:23115081}.
name:
C-X-C motif chemokine 17 (6-Cys CXCL17) (Dendritic cell and monocyte chemokine-like protein) (DMC) (VEGF coregulated chemokine 1) [Cleaved into: 4-Cys CXCL17]

sequence:
MKVLISSLLLLLPLMLMSMVSSSLNPGVARGHRDRGQASRRWLQEGGQECECKDWFLRAPRRKFMTVSGLPKKQCPCDHFKGNVKKTRHQRHHRKPNKHSRACQQFLKQCQLRSFALPL

opentargets:
extracellular space [GO:0005615]; activation of MAPK activity [GO:0000187]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; macrophage chemotaxis [GO:0048246]; negative regulation of inflammatory response [GO:0050728]; positive regulation of macrophage chemotaxis [GO:0010759]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of vascular endothelial growth factor production [GO:0010575]


uniprotID: P07358
geneSymbol: C8B
reactome: R-HSA-166665;R-HSA-977606;
pdb: 3OJY;
name: Complement component C8 beta chain (Complement component 8 subunit beta)
length: 591
snps: rs12067507 rs1013579 rs12085435
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular vesicle [GO:1903561]; membrane [GO:0016020]; membrane attack complex [GO:0005579]; protein-containing complex binding [GO:0044877]; complement activation [GO:0006956]; complement activation, alternative pathway [GO:0006957]; complement activation, classical pathway [GO:0006958]; cytolysis [GO:0019835]; immune response [GO:0006955]; regulation of complement activation [GO:0030449]


uniprotID: O15255
geneSymbol: RTL8C
name: CAAX box protein 1 (Cerebral protein 5)
length: 209
opentargets: plasma membrane [GO:0005886]
snps: rs5930670
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.
sequence:


uniprotID: Q9H2H0
geneSymbol: CXXC4
reactome: R-HSA-5368598;
pdb: 5VC9;
name: CXXC-type zinc finger protein 4 (Inhibition of the Dvl and axin complex protein)
length: 198
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MHHRNDSQRLGKAGCPPEPSLQMANTNFLSTLSPEHCRPLAGECMNKLKCGAAEAEIMNLPERVGTFSAIPALGGISLPPGVIVMTALHSPAAASAAVTDSAFQIANLADCPQNHSSSSSSSSGGAGGANPAKKKRKRCGVCVPCKRLINCGVCSSCRNRKTGHQICKFRKCEELKKKPGTSLERTPVPSAEAFRWFF

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; DNA binding [GO:0003677]; PDZ domain binding [GO:0030165]; zinc ion binding [GO:0008270]; negative regulation of Wnt signaling pathway [GO:0030178]; Wnt signaling pathway [GO:0016055]; zygotic specification of dorsal/ventral axis [GO:0007352]


uniprotID: Q7LFL8
geneSymbol: CXXC5
reactome: R-HSA-9018519;
pdb: 5W9S;
length: 322
go: ENSG00000171604;
name:
CXXC-type zinc finger protein 5 (CF5) (Putative MAPK-activating protein PM08) (Putative NF-kappa-B-activating protein 102) (Retinoid-inducible nuclear factor) (RINF)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7LFL8-1; Sequence=Displayed; Name=2; IsoId=Q7LFL8-2; Sequence=VSP_031013; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19182210, ECO:0000269|PubMed:19557330}. Cytoplasm {ECO:0000250}. Note=Colocalizes with DVL1 in large bodies localized just outside the nuclear membrane. {ECO:0000250}.


uniprotID: Q9P1Y5
geneSymbol: CAMSAP3
name: Calmodulin-regulated spectrin-associated protein 3 (Protein Nezha)
length: 1249
go: ENSG00000076826;
snps: rs3745358
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule minus-end [GO:0036449]; zonula adherens [GO:0005915]; actin filament binding [GO:0051015]; calmodulin binding [GO:0005516]; microtubule minus-end binding [GO:0051011]; spectrin binding [GO:0030507]; cytoplasmic microtubule organization [GO:0031122]; embryo development ending in birth or egg hatching [GO:0009792]; epithelial cell-cell adhesion [GO:0090136]; establishment of epithelial cell apical/basal polarity [GO:0045198]; establishment or maintenance of microtubule cytoskeleton polarity [GO:0030951]; microtubule anchoring [GO:0034453]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of microtubule depolymerization [GO:0007026]; negative regulation of phosphatase activity [GO:0010923]; neuron projection development [GO:0031175]; protein transport along microtubule [GO:0098840]; regulation of cell migration [GO:0030334]; regulation of focal adhesion assembly [GO:0051893]; regulation of Golgi organization [GO:1903358]; regulation of microtubule cytoskeleton organization [GO:0070507]; regulation of microtubule polymerization [GO:0031113]; regulation of organelle organization [GO:0033043]; zonula adherens maintenance [GO:0045218]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P1Y5-1; Sequence=Displayed; Name=2; IsoId=Q9P1Y5-2; Sequence=VSP_041473; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19041755, ECO:0000269|PubMed:23169647, ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:27693509, ECO:0000269|PubMed:28386021}. Cell junction, adherens junction {ECO:0000269|PubMed:19041755}. Cytoplasm {ECO:0000269|PubMed:19041755}. Note=Scattered in the cytoplasm, associated with the minus-end of microtubules and also detected at the centrosomes (PubMed:19041755, PubMed:24486153, PubMed:27693509). Decorates the minus-end of microtubules by decreasing the rate of tubulin incorporation and remaining bound (PubMed:24486153). Localizes along zonula adherens only at mature cell-cell contacts (PubMed:19041755). In early embryos, accumulates at the microtubule bridges that connect pairs of cells: this structure is present in early embryos, which lack centrosomes (By similarity). This cytokinetic bridge does not undergo stereotypical abscission after cell division (By similarity). Accumulates to the pericentrosomal region following interaction with KATNA1 (PubMed:28386021). {ECO:0000250|UniProtKB:Q80VC9, ECO:0000269|PubMed:19041755, ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:27693509, ECO:0000269|PubMed:28386021}.


uniprotID: Q96L12
geneSymbol: CALR3
name: Calreticulin-3 (Calreticulin-2) (Calsperin)
length: 384
go: ENSG00000269058;
snps: rs11544148 rs142951029 rs10411092 rs12459238 rs10404156
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; nuclear envelope [GO:0005635]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; protein binding involved in protein folding [GO:0044183]; unfolded protein binding [GO:0051082]; cell differentiation [GO:0030154]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:21590275}.


uniprotID: Q9HBT6
geneSymbol: CDH20
name: Cadherin-20
length: 801
go: ENSG00000101542;
snps: rs1943330 rs35923922 rs17068463
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
catenin complex [GO:0016342]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]


uniprotID: Q14444
geneSymbol: CAPRIN1
pdb: 4WBE;4WBP;
length: 709
go: ENSG00000135387;
snps: rs1132973 rs12282627 rs11552285
name:
Caprin-1 (Cell cycle-associated protein 1) (Cytoplasmic activation- and proliferation-associated protein 1) (GPI-anchored membrane protein 1) (GPI-anchored protein p137) (GPI-p137) (p137GPI) (Membrane component chromosome 11 surface marker 1) (RNA granule protein 105)

sequence:

opentargets:
cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; dendrite [GO:0030425]; membrane [GO:0016020]; P-body [GO:0000932]; synapse [GO:0045202]; RNA binding [GO:0003723]; negative regulation of translation [GO:0017148]; positive regulation of dendrite morphogenesis [GO:0050775]; positive regulation of dendritic spine morphogenesis [GO:0061003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14444-1; Sequence=Displayed; Name=2; IsoId=Q14444-2; Sequence=VSP_032687; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell projection, dendrite. Note=Associated with RNA granules. {ECO:0000250}.


uniprotID: Q9P1Z9
geneSymbol: CCDC180
name: Coiled-coil domain-containing protein 180
length: 1701
go: ENSG00000197816;
opentargets: extracellular exosome [GO:0070062]
snps: rs7864805 rs17855671 rs10981558 rs61261278 rs12353306 rs2061634 rs3747495 rs2306093
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q9P1Z9-2; Sequence=Displayed; Note=No experimental confirmation available.; Name=3; IsoId=Q9P1Z9-3; Sequence=VSP_059687; Note=No experimental confirmation available.; 


uniprotID: Q3MIR4
geneSymbol: TMEM30B
length: 351
go: ENSG00000182107;
name:
Cell cycle control protein 50B (P4-ATPase flippase complex beta subunit TMEM30B) (Transmembrane protein 30B)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; aminophospholipid transmembrane transporter activity [GO:0015247]; aminophospholipid transport [GO:0015917]; phospholipid translocation [GO:0045332]; positive regulation of protein exit from endoplasmic reticulum [GO:0070863]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20961850}; Multi-pass membrane protein {ECO:0000269|PubMed:20961850}.


uniprotID: H7C350
geneSymbol: CCDC188
name: Coiled-coil domain-containing protein 188
length: 402
go: ENSG00000234409;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:


uniprotID: Q8TAB7
geneSymbol: CCDC26
name: Putative coiled-coil domain-containing protein 26 (Retinoic acid modulator)
length: 109
sequence:
MERLCLQPGLLPTAVYLPHWERSSRDREEKEAPFFRLLSRRLMFCVHARQRTQNVPINKYQRLVVKMKEEEALREKLNMQNITHKENQNAGSLEMIDNMLKQEERRELK


uniprotID: Q2M243
geneSymbol: CCDC27
name: Coiled-coil domain-containing protein 27
length: 656
go: ENSG00000162592;
snps: rs10910021 rs1181883 rs10910024 rs11806371
sequence:


uniprotID: O75794
geneSymbol: CDC123
name: Cell division cycle protein 123 homolog (Protein D123) (HT-1080) (PZ32)
length: 336
go: ENSG00000151465;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cell cycle arrest [GO:0007050]; cell division [GO:0051301]; eukaryotic translation initiation factor 2 complex assembly [GO:1905143]; positive regulation of cell proliferation [GO:0008284]; positive regulation of translational initiation [GO:0045948]


uniprotID: Q53FE4
geneSymbol: C4orf17
name: Uncharacterized protein C4orf17
length: 359
go: ENSG00000138813;
snps: rs13143848 rs13119384 rs17029087
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53FE4-1; Sequence=Displayed; Name=2; IsoId=Q53FE4-2; Sequence=VSP_056907, VSP_056908; Note=No experimental confirmation available.; 


uniprotID: P29017
geneSymbol: CD1C
reactome: R-HSA-198933;
pdb: 3OV6;4ONO;5C9J;6C09;6C15;
name: T-cell surface glycoprotein CD1c (CD antigen CD1c)
length: 333
go: ENSG00000158481;
snps: rs3138100 rs3138105
sequence:

opentargets:
cell surface [GO:0009986]; endosome membrane [GO:0010008]; integral component of plasma membrane [GO:0005887]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; endogenous lipid antigen binding [GO:0030883]; exogenous lipid antigen binding [GO:0030884]; glycolipid binding [GO:0051861]; lipopeptide binding [GO:0071723]; adaptive immune response [GO:0002250]; antigen processing and presentation, endogenous lipid antigen via MHC class Ib [GO:0048006]; antigen processing and presentation, exogenous lipid antigen via MHC class Ib [GO:0048007]; immune response [GO:0006955]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; regulation of immune response [GO:0050776]; T cell activation involved in immune response [GO:0002286]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10890914, ECO:0000269|PubMed:10899914}; Single-pass type I membrane protein {ECO:0000255}. Endosome membrane {ECO:0000269|PubMed:10890914, ECO:0000269|PubMed:3097645}; Single-pass type I membrane protein. Lysosome {ECO:0000269|PubMed:10890914}. Note=Subject to intracellular trafficking between the cell membrane and endosomes. {ECO:0000269|PubMed:10890914, ECO:0000269|PubMed:3097645}.


uniprotID: A0A0K2S4Q6
geneSymbol: CD300H
name: Protein CD300H (CD300 antigen-like family member H)
length: 201
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; cytokine production [GO:0001816]; neutrophil chemotaxis [GO:0030593]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CD300H {ECO:0000303|PubMed:26221034}; IsoId=A0A0K2S4Q6-1; Sequence=Displayed; Name=2; Synonyms=CD300Hs {ECO:0000303|PubMed:26221034}; IsoId=A0A0K2S4Q6-2; Sequence=VSP_059910, VSP_059911; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:26221034}.


uniprotID: Q08722
geneSymbol: CD47
reactome: R-HSA-202733;R-HSA-216083;R-HSA-391160;R-HSA-6798695;
pdb: 2JJS;2JJT;2VSC;4CMM;4KJY;5IWL;5TZ2;5TZT;5TZU;
length: 323
go: ENSG00000196776;
name:
Leukocyte surface antigen CD47 (Antigenic surface determinant protein OA3) (Integrin-associated protein) (IAP) (Protein MER6) (CD antigen CD47)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; cell-cell adhesion mediator activity [GO:0098632]; protein binding involved in heterotypic cell-cell adhesion [GO:0086080]; thrombospondin receptor activity [GO:0070053]; cell migration [GO:0016477]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to interleukin-12 [GO:0071349]; extracellular matrix organization [GO:0030198]; integrin-mediated signaling pathway [GO:0007229]; leukocyte migration [GO:0050900]; monocyte extravasation [GO:0035696]; negative regulation of Fc-gamma receptor signaling pathway involved in phagocytosis [GO:1905450]; neutrophil degranulation [GO:0043312]; opsonization [GO:0008228]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell-cell adhesion [GO:0022409]; positive regulation of inflammatory response [GO:0050729]; positive regulation of phagocytosis [GO:0050766]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of T cell activation [GO:0050870]; regulation of interferon-gamma production [GO:0032649]; regulation of interleukin-10 production [GO:0032653]; regulation of interleukin-12 production [GO:0032655]; regulation of interleukin-6 production [GO:0032675]; regulation of nitric oxide biosynthetic process [GO:0045428]; regulation of tumor necrosis factor production [GO:0032680]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=OA3-323; IsoId=Q08722-1; Sequence=Displayed; Name=OA3-293; IsoId=Q08722-2; Sequence=VSP_002535; Name=OA3-305; IsoId=Q08722-3; Sequence=VSP_002536, VSP_002537; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=OA3-312; IsoId=Q08722-4; Sequence=VSP_002538; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:7691831}; Multi-pass membrane protein {ECO:0000269|PubMed:7691831}.


uniprotID: P09693
geneSymbol: CD3G
pdb: 1SY6;
name: T-cell surface glycoprotein CD3 gamma chain (T-cell receptor T3 gamma chain) (CD antigen CD3g)
length: 182
go: ENSG00000160654;
drug: DB00075;
snps: rs3753058
reactome:
R-HSA-198933;R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-389948;R-HSA-8856825;R-HSA-8856828;

sequence:
MEQGKGLAVLILAIILLQGTLAQSIKGNHLVKVYDYQEDGSVLLTCDAEAKNITWFKDGKMIGFLTEDKKKWNLGSNAKDPRGMYQCKGSQNKSKPLQVYYRMCQNCIELNAATISGFLFAEIVSIFVLAVGVYFIAGQDGVRQSRASDKQTLLPNDQLYQPLKDREDDQYSHLQGNQLRRN

opentargets:
alpha-beta T cell receptor complex [GO:0042105]; clathrin-coated vesicle membrane [GO:0030665]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; T cell receptor complex [GO:0042101]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; receptor signaling complex scaffold activity [GO:0030159]; T cell receptor binding [GO:0042608]; transmembrane signaling receptor activity [GO:0004888]; adaptive immune response [GO:0002250]; cell surface receptor signaling pathway [GO:0007166]; establishment or maintenance of cell polarity [GO:0007163]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; membrane organization [GO:0061024]; positive thymic T cell selection [GO:0045059]; protein homooligomerization [GO:0051260]; protein transport [GO:0015031]; protein-containing complex assembly [GO:0065003]; regulation of immune response [GO:0050776]; regulation of lymphocyte apoptotic process [GO:0070228]; T cell activation [GO:0042110]; T cell differentiation [GO:0030217]; T cell receptor signaling pathway [GO:0050852]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8636209}; Single-pass type I membrane protein.


uniprotID: Q99467
geneSymbol: CD180
reactome: R-HSA-166016;
pdb: 3B2D;
name: CD180 antigen (Lymphocyte antigen 64) (Radioprotective 105 kDa protein) (CD antigen CD180)
length: 661
go: ENSG00000134061;
snps: rs5744463 rs16875312 rs2230520 rs5744525 rs56752081 rs2230523 rs2230524
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; B cell proliferation involved in immune response [GO:0002322]; cellular response to lipopolysaccharide [GO:0071222]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; positive regulation of lipopolysaccharide-mediated signaling pathway [GO:0031666]


uniprotID: Q96NL8
geneSymbol: C8orf37
name: Protein C8orf37
length: 207
go: ENSG00000156172;
snps: rs36096184 rs387907136 rs387907137
sequence:

opentargets:
cell junction [GO:0030054]; ciliary base [GO:0097546]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; photoreceptor inner segment [GO:0001917]; plasma membrane [GO:0005886]; photoreceptor cell morphogenesis [GO:0008594]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q3UJP5}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q3UJP5}. Note=In the retina, located at the base of the primary cilium (PubMed:22177090). Expressed throughout photoreceptors cell body including the basal body, inner segment and synaptic terminus, but not in the outer segment. {ECO:0000250|UniProtKB:Q3UJP5, ECO:0000269|PubMed:22177090}.


uniprotID: Q96H22
geneSymbol: CENPN
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
pdb: 6BUZ;6C0W;6EQT;
name: Centromere protein N (CENP-N) (Interphase centromere complex protein 32)
length: 339
go: ENSG00000166451;
snps: rs935939 rs11641523 rs2549887
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; CENP-A containing nucleosome assembly [GO:0034080]; chromosome segregation [GO:0007059]; kinetochore assembly [GO:0051382]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96H22-1; Sequence=Displayed; Name=2; IsoId=Q96H22-2; Sequence=VSP_020441, VSP_020442; Name=3; IsoId=Q96H22-3; Sequence=VSP_044565; Note=No experimental confirmation available.; Name=4; IsoId=Q96H22-4; Sequence=VSP_044689; Note=No experimental confirmation available.; Name=5; IsoId=Q96H22-5; Sequence=VSP_044690; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Localizes exclusively in the kinetochore domain of centromeres. Kinetochore-bound levels decrease when cells enter mitosis and increase again when cells exit mitosis.


uniprotID: Q9H112
geneSymbol: CST11
name: Cystatin-11
length: 138
go: ENSG00000125831;
sequence:
MMAEPWQALQLLLAILLTLMALPYQARKKTFLSVHEVMAVENYAKDSLQWITDQYNKESDDKYHFRIFRVLKVQRQVTDHLEYHLNVEMQWTTCQKPETTNCVPQERELHKQVNCFFSVFAVPWFEQYKILNKSCSSD

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; nucleus [GO:0005634]; sperm flagellum [GO:0036126]; sperm head [GO:0061827]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; androgen receptor signaling pathway [GO:0030521]; defense response to Gram-negative bacterium [GO:0050829]; killing of cells of other organism [GO:0031640]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H112-1; Sequence=Displayed; Name=2; IsoId=Q9H112-2; Sequence=VSP_001260; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305|PubMed:12072414}. Note=Probably secreted into the epididymis lumen, where it localizes to the outer surface of sperm. Specifically localizes to the postacrosomal and tail regions of sperm. {ECO:0000269|PubMed:12072414}.


uniprotID: O60676
geneSymbol: CST8
name: Cystatin-8 (Cystatin-related epididymal spermatogenic protein)
length: 142
go: ENSG00000125815;
snps: rs35190670 rs1054633
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MPRCRWLSLILLTIPLALVARKDPKKNETGVLRKLKPVNASNANVKQCLWFAMQEYNKESEDKYVFLVVKTLQAQLQVTNLLEYLIDVEIARSDCRKPLSTNEICAIQENSKLKRKLSCSFLVGALPWNGEFTVMEKKCEDA

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; cysteine-type endopeptidase inhibitor activity [GO:0004869]


uniprotID: Q9H4G1
geneSymbol: CST9L
name: Cystatin-9-like (Testatin)
length: 147
go: ENSG00000101435;
opentargets: extracellular region [GO:0005576]; cysteine-type endopeptidase inhibitor activity [GO:0004869]
snps: rs2295564
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MLGLPWKGGLSWALLLLLLGSQILLIYAWHFHEQRDCDEHNVMARYLPATVEFAVHTFNQQSKDYYAYRLGHILNSWKEQVESKTVFSMELLLGRTRCGKFEDDIDNCHFQESTELNNTFTCFFTISTRPWMTQFSLLNKTCLEGFH


uniprotID: Q5W188
geneSymbol: CST9LP1
name: Putative cystatin-9-like protein CST9LP1 (Cystatin-9-like pseudogene 1)
length: 147
opentargets: extracellular space [GO:0005615]; cysteine-type endopeptidase inhibitor activity [GO:0004869]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MWSLPPSRALSCAPLLLLFSFQFLVTYAWRFQEEEEWNDQKQIAVYLPPTLEFAVYTFNKQSKDWYAYKLVPVLASWKEQGYDKMTFSMNLQLGRTMCGKFEDDIDNCPFQESPELNNTCTCFFTIGIEPWRTRFDLWNKTCSGGHS


uniprotID: Q5W186
geneSymbol: CST9
name: Cystatin-9 (Cystatin-like molecule)
length: 159
go: ENSG00000173335;
snps: rs2983640
sequence:
MSSPQRRKAMPWALSLLLMGFQLLVTYAWCSEEEMGGNNKIVQDPMFLATVEFALNTFNVQSKEEHAYRLLRVLSSWREDSMDRKWRGKMVFSMNLQLRQTVCRKFEDDIDNCPFQESLELNNVRQGISFPQVHSCGCCMGCGVGTGAADKAIPRDKGK

opentargets:
extracellular region [GO:0005576]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; antimicrobial humoral response [GO:0019730]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12535658}. Note=May be targeted through the Golgi via the secretory pathway. {ECO:0000269|PubMed:12535658}.


uniprotID: Q05048
geneSymbol: CSTF1
reactome: R-HSA-109688;R-HSA-72163;R-HSA-72187;R-HSA-77595;
pdb: 6B3X;
length: 431
go: ENSG00000101138;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Cleavage stimulation factor subunit 1 (CF-1 50 kDa subunit) (Cleavage stimulation factor 50 kDa subunit) (CSTF 50 kDa subunit) (CstF-50)

sequence:

opentargets:
mRNA cleavage stimulating factor complex [GO:0005848]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA splicing, via spliceosome [GO:0000398]; termination of RNA polymerase II transcription [GO:0006369]


uniprotID: P33240
geneSymbol: CSTF2
reactome: R-HSA-109688;R-HSA-6784531;R-HSA-72163;R-HSA-72187;R-HSA-77595;
pdb: 1P1T;2J8P;
length: 577
go: ENSG00000101811;
name:
Cleavage stimulation factor subunit 2 (CF-1 64 kDa subunit) (Cleavage stimulation factor 64 kDa subunit) (CSTF 64 kDa subunit) (CstF-64)

sequence:

opentargets:
cleavage body [GO:0071920]; mRNA cleavage and polyadenylation specificity factor complex [GO:0005847]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA polyadenylation [GO:0006378]; mRNA splicing, via spliceosome [GO:0000398]; pre-mRNA cleavage required for polyadenylation [GO:0098789]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P33240-1; Sequence=Displayed; Name=2; IsoId=P33240-2; Sequence=VSP_014841; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11598190}. Note=Localized with DDX1 in cleavage bodies.


uniprotID: Q12996
geneSymbol: CSTF3
reactome: R-HSA-109688;R-HSA-72163;R-HSA-72187;R-HSA-77595;
pdb: 6B3X;
length: 717
go: ENSG00000176102;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Cleavage stimulation factor subunit 3 (CF-1 77 kDa subunit) (Cleavage stimulation factor 77 kDa subunit) (CSTF 77 kDa subunit) (CstF-77)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA cleavage [GO:0006379]; mRNA polyadenylation [GO:0006378]; mRNA splicing, via spliceosome [GO:0000398]; RNA 3'-end processing [GO:0031123]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q12996-1; Sequence=Displayed; Name=2; IsoId=Q12996-2; Sequence=VSP_042731, VSP_042732; Note=No experimental confirmation available.; Name=3; IsoId=Q12996-3; Sequence=VSP_045675, VSP_045676; Note=No experimental confirmation available.; 


uniprotID: Q9H0L4
geneSymbol: CSTF2T
reactome: R-HSA-109688;R-HSA-72163;R-HSA-72187;R-HSA-77595;
length: 616
go: ENSG00000177613;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Cleavage stimulation factor subunit 2 tau variant (CF-1 64 kDa subunit tau variant) (Cleavage stimulation factor 64 kDa subunit tau variant) (CSTF 64 kDa subunit tau variant) (TauCstF-64)

sequence:

opentargets:
intracellular [GO:0005622]; mRNA cleavage and polyadenylation specificity factor complex [GO:0005847]; nucleoplasm [GO:0005654]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA splicing, via spliceosome [GO:0000398]; pre-mRNA cleavage required for polyadenylation [GO:0098789]; termination of RNA polymerase II transcription [GO:0006369]


uniprotID: Q9H114
geneSymbol: CSTL1
name: Cystatin-like 1 (RCET11)
length: 145
go: ENSG00000125823;
opentargets: extracellular region [GO:0005576]; cysteine-type endopeptidase inhibitor activity [GO:0004869]
snps: rs7361799 rs16985357 rs17757442 rs3746736 rs3746737
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MGIGCWRNPLLLLIALVLSAKLGHFQRWEGFQQKLMSKKNMNSTLNFFIQSYNNASNDTYLYRVQRLIRSQMQLTTGVEYIVTVKIGWTKCKRNDTSNSSCPLQSKKLRKSLICESLIYTMPWINYFQLWNNSCLEAEHVGRNLR


uniprotID: O94985
geneSymbol: CLSTN1
length: 981
go: ENSG00000171603;
snps: rs7550295 rs17853245 rs17853244 rs17853243 rs17855572 rs17855573
name:
Calsyntenin-1 (Alcadein-alpha) (Alc-alpha) (Alzheimer-related cadherin-like protein) (Non-classical cadherin XB31alpha) [Cleaved into: Soluble Alc-alpha (SAlc-alpha); CTF1-alpha (C-terminal fragment 1-alpha)]

sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; Golgi membrane [GO:0000139]; integral component of postsynaptic density membrane [GO:0099061]; integral component of spine apparatus membrane [GO:0099065]; nucleus [GO:0005634]; postsynaptic endosome [GO:0098845]; postsynaptic membrane [GO:0045211]; amyloid-beta binding [GO:0001540]; calcium ion binding [GO:0005509]; kinesin binding [GO:0019894]; X11-like protein binding [GO:0042988]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; neurotransmitter receptor transport to postsynaptic membrane [GO:0098969]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic transmission [GO:0050806]; regulation of cell growth [GO:0001558]; regulation of synapse maturation [GO:0090128]; vesicle-mediated transport in synapse [GO:0099003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alcalpha2; IsoId=O94985-1; Sequence=Displayed; Name=2; Synonyms=Alcalpha1; IsoId=O94985-2; Sequence=VSP_032035; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:17332754}; Single-pass type I membrane protein {ECO:0000269|PubMed:17332754}. Golgi apparatus membrane {ECO:0000269|PubMed:17332754}. Cell projection {ECO:0000269|PubMed:17332754}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Nucleus {ECO:0000269|PubMed:17332754}. Note=Neurite tips. Localized in the postsynaptic membrane of both excitatory and inhibitory synapses (By similarity). The AlcICD fragment is translocated to the nucleus upon interaction with APBB1. {ECO:0000250}.


uniprotID: Q9H4D0
geneSymbol: CLSTN2
name: Calsyntenin-2 (Alcadein-gamma) (Alc-gamma)
length: 955
go: ENSG00000158258;
snps: rs17348572 rs7632885 rs766718816
sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum membrane [GO:0005789]; glutamatergic synapse [GO:0098978]; Golgi membrane [GO:0000139]; integral component of postsynaptic density membrane [GO:0099061]; postsynaptic membrane [GO:0045211]; calcium ion binding [GO:0005509]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic transmission [GO:0050806]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Endoplasmic reticulum membrane. Golgi apparatus membrane. Note=Most prominent in the postsynaptic specializations of asymmetric (type I) synapses with both axodendritic and axospinous localization. {ECO:0000250}.


uniprotID: Q9BQT9
geneSymbol: CLSTN3
name: Calsyntenin-3 (Alcadein-beta) (Alc-beta)
length: 956
go: ENSG00000139182;
snps: rs7302230
sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum membrane [GO:0005789]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; Golgi membrane [GO:0000139]; integral component of postsynaptic density membrane [GO:0099061]; postsynaptic membrane [GO:0045211]; protein-containing complex [GO:0032991]; calcium ion binding [GO:0005509]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; positive regulation of protein localization to synapse [GO:1902474]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic transmission [GO:0050806]; regulation of cell growth [GO:0001558]; regulation of presynapse assembly [GO:1905606]; synapse assembly [GO:0007416]; synaptic transmission, GABAergic [GO:0051932]; synaptic transmission, glutamatergic [GO:0035249]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQT9-1; Sequence=Displayed; Name=2; IsoId=Q9BQT9-2; Sequence=VSP_043748; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Endoplasmic reticulum membrane. Golgi apparatus membrane. Note=Most prominent in the postsynaptic specializations of asymmetric (type I) synapses with both axodendritic and axospinous localization. {ECO:0000250}.


uniprotID: Q96C57
geneSymbol: CUSTOS
name: Protein CUSTOS
length: 262
go: ENSG00000157895;
snps: rs11537857
location: SUBCELLULAR LOCATION: Nucleus envelope {ECO:0000250|UniProtKB:A9C3N6}.
sequence:

opentargets:
nuclear envelope [GO:0005635]; multicellular organism development [GO:0007275]; Wnt signaling pathway [GO:0016055]


uniprotID: Q9GZN8
geneSymbol: C20orf27
name: UPF0687 protein C20orf27
length: 174
go: ENSG00000101220;
sequence:
MAAANKGNKPRVRSIRFAAGHDAEGSHSHVHFDEKLHDSVVMVTQESDSSFLVKVGFLKILHRYEITFTLPPVHRLSKDVREAPVPSLHLKLLSVVPVPEGYSVKCEYSAHKEGVLKEEILLACEGGTGTCVRVTVQARVMDRHHGTPMLLDGVKCVGAELEYDSEHSDWHGFD

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZN8-1; Sequence=Displayed; Name=2; IsoId=Q9GZN8-2; Sequence=VSP_040293; 


uniprotID: Q9BR46
geneSymbol: C20orf78
name: Putative uncharacterized protein C20orf78
length: 151
sequence:
MFQVFKPHAGEDYKYPRETETIWSHPYVVEGSHKSPLESLSLHGCLAAMAPSITSSEDSSPSQRDKKDLSLDLLLTRKKRSQGLHWSHWQGLNHMSIRIHTPEQGSPSLGQNWSWGNRKEKGVAQRQVPTTGTHSFFHCTSEGNKEKPHHF


uniprotID: Q9H1P6
geneSymbol: C20orf85
name: Uncharacterized protein C20orf85
length: 137
go: ENSG00000124237;
snps: rs16984945 rs45576936 rs17440813
sequence:
MAQKPLSTAAAERMNLVGQDEIWKYRLKAESEARQNWPQNWGFLTTPFEELIKCEEDLPTPKPKIELPERFRIRPVTPVEKYIKVFPSPPVPQTTQGFIGWRSAVPGLNKCLELDDAIRSCKGAFARELCWPKQGVH


uniprotID: Q9NUD7
geneSymbol: C20orf96
name: Uncharacterized protein C20orf96
length: 363
go: ENSG00000196476;
snps: rs3827147
sequence:


uniprotID: Q9NUB4
geneSymbol: C20orf141
name: Uncharacterized protein C20orf141
length: 165
go: ENSG00000258713;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MTRLCLPRPEAREDPIPVPPRGLGAGEGSGSPVRPPVSTWGPSWAQLLDSVLWLGALGLTIQAVFSTTGPALLLLLVSFLTFDLLHRPAGHTLPQRKLLTRGQSQGAGEGPGQQEALLLQMGTVSGQLSLQDALLLLLMGLGPLLRACGMPLTLLGLAFCLHPWA


uniprotID: Q9BQM9
geneSymbol: C20orf144
name: Uncharacterized protein C20orf144 (Bcl-2-like protein from testis) (Bclt)
length: 153
go: ENSG00000149609;
snps: rs7260921
sequence:
MGNYSSHKRTKAPKQARKERPADMDKAWWKSFLNHLTRKKPATRIVLILPLDKRQPLANAGQRIDYASGAGLGSPAAPRLRGAGEGSEREPRMPVLLLLRRQEARRPEEGGARAALSWPRLLSRFRSPGKAPREAGPAEEQPRKRCRCPRPQL


uniprotID: Q96LM9
geneSymbol: C20orf173
name: Uncharacterized protein C20orf173
length: 149
snps: rs7261862
sequence:
MLSGPHPSPTFRPNPCPWPCLHSLWMEISPTQLCFLSPGPSPQSPSCCFQGMNSGSELGKLWRKLFKGIPRLSVSHFDFYCGTCVLLGRPQIPQGSSLGNDIDQYPVVFRNASDQGSWMQLEMLLRKLSDLVWTSDALSDKILEDGLVP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96LM9-1; Sequence=Displayed; Name=2; IsoId=Q96LM9-2; Sequence=VSP_040891; 


uniprotID: Q9H4R4
geneSymbol: NCOR1P1
length: 102
name:
Putative nuclear receptor corepressor 1-like protein NCOR1P1 (Nuclear receptor corepressor 1 pseudogene 1)

sequence:
MSSSGYPPNQGAFSTEQSHYPPHSVKYTFPSTHHQQDPAFGGKHEAPSSPILGQPCGDDQNASPSKLSKEELIECMDRVDREIAKVEQQILKLKKKQVKVFV

opentargets:
histone deacetylase complex [GO:0000118]; nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; chromatin binding [GO:0003682]; histone deacetylase binding [GO:0042826]; nuclear hormone receptor binding [GO:0035257]; RNA polymerase II regulatory region DNA binding [GO:0001012]; sequence-specific DNA binding [GO:0043565]; thyroid hormone receptor binding [GO:0046966]; transcription corepressor activity [GO:0003714]; negative regulation of transcription by RNA polymerase II [GO:0000122]


uniprotID: Q5TEA3
geneSymbol: C20orf194
name: Uncharacterized protein C20orf194
length: 1177
go: ENSG00000088854;
snps: rs8124486 rs149767043 rs16988463 rs2422864
sequence:


uniprotID: Q8N268
geneSymbol: C20orf197
name: Uncharacterized protein C20orf197
length: 126
sequence:
MVALFQHSPYWQADGYGHSHRLKCQHFKQHRQYNDKLEISSNLGPQFNALLNILLNIVHPTLSHDTRRSKGLKIEGLLQSRELGNSWTVTMCIWVLKALQSSAPNKPLDWLDPMPCFQNLLARGTP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N268-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2; IsoId=Q8N268-2; Sequence=VSP_023311, VSP_023310; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: A1L168
geneSymbol: C20orf202
name: Uncharacterized protein C20orf202
length: 122
sequence:
MYKSKIPRAQNQVSVKVTPKNTEMKIAEEPSPSLGQTLEWLRKELSEMQIQDQSLLLTLRHLHSVLEELRADSAHWEDARSSGGTSPIRARAGSEGRGCQPVCSRGLAQLLRGEDSRRSSLP


uniprotID: Q8NBC4
geneSymbol: C20orf203
name: Uncharacterized protein C20orf203
length: 194
go: ENSG00000198547;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20376170}.
sequence:
MFPRPVLNSRAQAILLPQPPNMLDHRQWPPRLASFPFTKTGMLSRATSVLAGLTAHLWDLGGGAGRRTSKAQRVHPQPSHQRQPPPPQHPGPYQERIWVGGEGWGEVGGLRLSKVGRRDREVGRGLRAPAGRGRAMGGMPRMGTVGDFGQALSSLAWTSTCFQDFCLPSLPGKLPAPLISKQQFLSNSSRSLFN


uniprotID: A0A1B0GTL2
geneSymbol: C20orf204
name: Uncharacterized protein C20orf204
length: 189
go: ENSG00000196421;
sequence:
MVPPKPALWALLLALLGTAPSRAYSPACSVPDVLRHYRAIIFEDLQAAVKWGGAGAEKTRPGSRHFHFIQKNLTRPGSSGRRGRPRASCGAQKEHSILLSISSLGRTLRGAVAGGRRGALERAAWTVAVRTEAVMRRHCRTLRQRSRRPKMRPARRRGGRRQLLLRALDAVATCWEKLFALRAPASRDS


uniprotID: Q9P2B4
geneSymbol: CTTNBP2NL
name: CTTNBP2 N-terminal-like protein
length: 639
go: ENSG00000143079;
snps: rs1175640 rs12137578
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, stress fiber {ECO:0000250|UniProtKB:Q99LJ0}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; protein phosphatase 2A binding [GO:0051721]; negative regulation of transmembrane transport [GO:0034763]; negative regulation of transporter activity [GO:0032410]; protein dephosphorylation [GO:0006470]


uniprotID: Q5HYN5
geneSymbol: CT45A1
name: Cancer/testis antigen family 45 member A1 (Cancer/testis antigen 45-1) (Cancer/testis antigen 45A1)
length: 189
go: ENSG00000268940;
opentargets: integrator complex [GO:0032039]; snRNA 3'-end processing [GO:0034472]
sequence:
MTDKTEKVAVDPETVFKRPRECDSPSYQKRQRMALLARKQGAGDSLIAGSAMSKAKKLMTGHAIPPSQLDSQIDDFTGFSKDRMMQKPGSNAPVGGNVTSSFSGDDLECRETASSPKSQREINADIKRKLVKELRCVGQKYEKIFEMLEGVQGPTAVRKRFFESIIKEAARCMRRDFVKHLKKKLKRMI


uniprotID: Q5DJT8
geneSymbol: CT45A2
name: Cancer/testis antigen family 45 member A2 (Cancer/testis antigen 45-2) (Cancer/testis antigen 45A2)
length: 189
go: ENSG00000271449;
opentargets: integrator complex [GO:0032039]; snRNA 3'-end processing [GO:0034472]
sequence:
MTDKTEKVAVDPETVFKRPRECDSPSYQKRQRMALLARKQGAGDSLIAGSAMSKEKKLMTGHAIPPSQLDSQIDDFTGFSKDRMMQKPGSNAPVGGNVTSSFSGDDLECRETAFSPKSQQEINADIKRQLVKELRCVGQKYEKIFEMLEGVQGPTAVRKRFFESIIKEAARCMRRDFVKHLKKKLKRMI


uniprotID: Q8NHU0
geneSymbol: CT45A3
length: 189
opentargets: integrator complex [GO:0032039]; snRNA 3'-end processing [GO:0034472]
snps: rs200277856
name:
Cancer/testis antigen family 45 member A3 (Cancer/testis antigen 45-3) (Cancer/testis antigen 45-4) (Cancer/testis antigen 45A3) (Cancer/testis antigen 45A4) (Cancer/testis antigen family 45 member A4)

sequence:
MTDKTEKVAVDPETVFKRPRECDSPSYQKRQRMALLARKQGAGDSLIAGSAMSKEKKLMTGHAIPPSQLDSQIDDFTGFSKDRMMQKPGSNAPVGGNVTSSFSGDDLECRETASSPKSQREINADIKRKLVKELRCVGQKYEKIFEMLEGVQGPTAVRKRFFESIIKEAARCMRRDFVKHLKKKLKRMI


uniprotID: P0DMU8
geneSymbol: CT45A5
name: Cancer/testis antigen family 45 member A5 (Cancer/testis antigen 45-5) (Cancer/testis antigen 45A5)
length: 189
go: ENSG00000228836;ENSG00000278289;
opentargets: integrator complex [GO:0032039]; snRNA 3'-end processing [GO:0034472]
sequence:
MTDKTEKVAVDPETVFKRPRECDSPSYQKRQRMALLARKQGAGDSLIAGSAMSKEKKLMTGHAIPPSQLDSQIDDFTGFSKDGMMQKPGSNAPVGGNVTSSFSGDDLECRETASSPKSQREINADIKRKLVKELRCVGQKYEKIFEMLEGVQGPTAVRKRFFESIIKEAARCMRRDFVKHLKKKLKRMI


uniprotID: P0DMU9
geneSymbol: CT45A10
name: Cancer/testis antigen family 45 member A10 (Cancer/testis antigen 45A10)
length: 189
go: ENSG00000269586;
opentargets: integrator complex [GO:0032039]; snRNA 3'-end processing [GO:0034472]
sequence:
MTDKTEKVAVDPETVFKRPRECDSPSYQKRQRMALLARKQGAGDSLIAGSAMSKEKKLMTGHAIPPSQLDSQIDDFTGFSKDGMMQKPGSNAPVGGNVTSNFSGDDLECRGIASSPKSQQEINADIKCQVVKEIRCLGRKYEKIFEMLEGVQGPTAVRKRFFESIIKEAARCMRRDFVKHLKKKLKRMI


uniprotID: Q5JQC4
geneSymbol: CT47A1; CT47A2; CT47A3; CT47A4; CT47A5; CT47A6; CT47A7; CT47A8; CT47A9; CT47A10; CT47A11; CT47A12
name: Cancer/testis antigen 47A (Cancer/testis antigen 47) (CT47)
length: 288
go: ENSG00000236371;
sequence:


uniprotID: P0C2W7
geneSymbol: CT47B1
name: Cancer/testis antigen 47B (Cancer/testis antigen 47.13) (CT47.13)
length: 299
go: ENSG00000236446;
sequence:


uniprotID: Q8WUE5
geneSymbol: CT55
name: Cancer/testis antigen 55 (Tumor antigen BJ-HCC-20)
length: 264
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WUE5-1; Sequence=Displayed; Name=2; Synonyms=BJ-HCC-20B; IsoId=Q8WUE5-2; Sequence=VSP_014465; 


uniprotID: P0C5K7
geneSymbol: CT62
name: Cancer/testis antigen 62 (CT62)
length: 136
go: ENSG00000225362;
sequence:
MMHTTSYRRLSPPHLTDQPSAYSHTHRTFSHFSCGSQPAAQRLHVELWNADLQSEFLCPCLGLTLYLTCNPQLGKRKFCSHSSEDMSKMVSRRNVKDSHEVSGSLQATLQVISFSFPFLLHTCSHPLSHPTSGQRR


uniprotID: O75638
geneSymbol: CTAG2
length: 210
go: ENSG00000126890;
opentargets: centrosome [GO:0005813]
snps: rs17855367 rs17328091 rs5987003
name:
Cancer/testis antigen 2 (CT2) (Autoimmunogenic cancer/testis antigen NY-ESO-2) (Cancer/testis antigen 6.2) (CT6.2) (L antigen family member 1) (LAGE-1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=LAGE-1B; Synonyms=LAGE-1L; IsoId=O75638-1; Sequence=Displayed; Name=LAGE-1A; Synonyms=LAGE-1S; IsoId=O75638-2; Sequence=VSP_004301; 


uniprotID: Q13363
geneSymbol: CTBP1
reactome: R-HSA-3769402;R-HSA-3899300;R-HSA-4641265;R-HSA-5339700;
pdb: 1MX3;4LCE;4U6Q;4U6S;6CDF;6CDR;
name: C-terminal-binding protein 1 (CtBP1) (EC 1.1.1.-)
length: 440
go: ENSG00000159692;
drug: DB01942;
sequence:

opentargets:
GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; presynaptic active zone cytoplasmic component [GO:0098831]; transcription factor complex [GO:0005667]; transcriptional repressor complex [GO:0017053]; DNA-binding transcription factor activity [GO:0003700]; identical protein binding [GO:0042802]; NAD binding [GO:0051287]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; repressing transcription factor binding [GO:0070491]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; negative regulation of cell proliferation [GO:0008285]; negative regulation of histone acetylation [GO:0035067]; negative regulation of histone H4 acetylation [GO:0090241]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription from RNA polymerase II promoter by histone modification [GO:1903758]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of histone deacetylation [GO:0031065]; protein phosphorylation [GO:0006468]; regulation of cell cycle [GO:0051726]; viral genome replication [GO:0019079]; white fat cell differentiation [GO:0050872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13363-1; Sequence=Displayed; Name=2; IsoId=Q13363-2; Sequence=VSP_043305; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12679040}. Nucleus {ECO:0000269|PubMed:12679040}.


uniprotID: P56545
geneSymbol: CTBP2
reactome: R-HSA-4641265;R-HSA-5339700;
pdb: 2OME;4LCJ;
name: C-terminal-binding protein 2 (CtBP2)
length: 445
go: ENSG00000175029;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Cell junction, synapse {ECO:0000250}.
sequence:

opentargets:
cell junction [GO:0030054]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; nucleus [GO:0005634]; photoreceptor ribbon synapse [GO:0098684]; presynaptic active zone cytoplasmic component [GO:0098831]; presynaptic cytosol [GO:0099523]; transcriptional repressor complex [GO:0017053]; chromatin binding [GO:0003682]; NAD binding [GO:0051287]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; retinoic acid receptor binding [GO:0042974]; structural constituent of presynaptic active zone [GO:0098882]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; cellular response to leukemia inhibitory factor [GO:1990830]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of chromatin binding [GO:0035563]; positive regulation of retinoic acid receptor signaling pathway [GO:0048386]; positive regulation of transcription by RNA polymerase II [GO:0045944]; synaptic vesicle docking [GO:0016081]; viral genome replication [GO:0019079]; white fat cell differentiation [GO:0050872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P56545-1; Sequence=Displayed; Name=2; Synonyms=Ribeye; IsoId=P56545-2; Sequence=VSP_027615; Name=3; IsoId=P56545-3; Sequence=VSP_058946; 


uniprotID: Q9UQC9
geneSymbol: CLCA2
reactome: R-HSA-2672351;
length: 943
go: ENSG00000137975;
snps: rs11580625 rs17409304 rs1413426
name:
Calcium-activated chloride channel regulator 2 (EC 3.4.-.-) (Calcium-activated chloride channel family member 2) (hCLCA2) (Calcium-activated chloride channel protein 3) (CaCC-3) (hCaCC-3) [Cleaved into: Calcium-activated chloride channel regulator 2, 109 kDa form; Calcium-activated chloride channel regulator 2, 35 kDa form]

sequence:

opentargets:
basal plasma membrane [GO:0009925]; cell junction [GO:0030054]; cytosol [GO:0005829]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; chloride channel activity [GO:0005254]; intracellular calcium activated chloride channel activity [GO:0005229]; ligand-gated ion channel activity [GO:0015276]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; cell adhesion [GO:0007155]; ion transmembrane transport [GO:0034220]

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Basal cell membrane; Single-pass type I membrane protein. Cell junction.; SUBCELLULAR LOCATION: Calcium-activated chloride channel regulator 2, 109 kDa form: Secreted. Note=Remains associated to the 35 kDa form until an unidentified event triggers the release.


uniprotID: Q14CN2
geneSymbol: CLCA4
reactome: R-HSA-2672351;
length: 919
go: ENSG00000016602;
snps: rs2231580 rs2839932 rs1011048 rs2231604
name:
Calcium-activated chloride channel regulator 4 (EC 3.4.-.-) (Calcium-activated chloride channel family member 4) (hCLCA4) (Calcium-activated chloride channel protein 2) (CaCC-2) (hCaCC-2) (Chloride channel accessory 4) [Cleaved into: Calcium-activated chloride channel regulator 4, 110 kDa form; Calcium-activated chloride channel regulator 4, 30 kDa form]

sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; chloride channel activity [GO:0005254]; intracellular calcium activated chloride channel activity [GO:0005229]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; ion transmembrane transport [GO:0034220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14CN2-1; Sequence=Displayed; Name=2; IsoId=Q14CN2-2; Sequence=VSP_056117, VSP_056118, VSP_056119; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Apical cell membrane {ECO:0000250}. Secreted {ECO:0000250}. Note=The C-terminus 30 kDa form is anchored to the membrane. The N-terminus 110 kDa form is released from the membrane triggered by an unknown stimulus. {ECO:0000250}.


uniprotID: P09496
geneSymbol: CLTA
name: Clathrin light chain A (Lca)
length: 248
go: ENSG00000122705;
reactome:
R-HSA-168275;R-HSA-177504;R-HSA-190873;R-HSA-196025;R-HSA-2132295;R-HSA-3928665;R-HSA-432720;R-HSA-432722;R-HSA-437239;R-HSA-5099900;R-HSA-5140745;R-HSA-8856825;R-HSA-8856828;R-HSA-8866427;R-HSA-8964038;

sequence:

opentargets:
clathrin coat [GO:0030118]; clathrin coat of coated pit [GO:0030132]; clathrin coat of trans-Golgi network vesicle [GO:0030130]; clathrin complex [GO:0071439]; clathrin vesicle coat [GO:0030125]; clathrin-coated endocytic vesicle [GO:0045334]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endolysosome membrane [GO:0036020]; membrane [GO:0016020]; plasma membrane [GO:0005886]; postsynaptic endocytic zone cytoplasmic component [GO:0099631]; presynaptic endocytic zone membrane [GO:0098835]; spindle [GO:0005819]; synaptic vesicle membrane [GO:0030672]; trans-Golgi network membrane [GO:0032588]; clathrin heavy chain binding [GO:0032050]; GTPase binding [GO:0051020]; peptide binding [GO:0042277]; protein-containing complex binding [GO:0044877]; structural molecule activity [GO:0005198]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell cycle [GO:0007049]; cell division [GO:0051301]; clathrin coat assembly [GO:0048268]; clathrin-dependent endocytosis [GO:0072583]; intracellular protein transport [GO:0006886]; low-density lipoprotein particle clearance [GO:0034383]; low-density lipoprotein particle receptor catabolic process [GO:0032802]; membrane organization [GO:0061024]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=Brain; IsoId=P09496-1; Sequence=Displayed; Name=Non-brain; IsoId=P09496-2; Sequence=VSP_001095; Name=3; IsoId=P09496-3; Sequence=VSP_024238; Name=4; IsoId=P09496-4; Sequence=VSP_043239; Note=No experimental confirmation available.; Name=5; IsoId=P09496-5; Sequence=VSP_047168, VSP_001095; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:21297582, ECO:0000305|PubMed:15858577}. Note=Cytoplasmic face of coated pits and vesicles. In complex with TACC3 and CKAP5 (forming the TACC3/ch-TOG/clathrin complex) localized to inter-microtubule bridges in mitotic spindles. {ECO:0000305}.


uniprotID: P30825
geneSymbol: SLC7A1
reactome: R-HSA-352230;
length: 629
go: ENSG00000139514;
drug: DB00125;DB00123;DB00129;
name:
High affinity cationic amino acid transporter 1 (CAT-1) (CAT1) (Ecotropic retroviral leukemia receptor homolog) (Ecotropic retrovirus receptor homolog) (Solute carrier family 7 member 1) (System Y+ basic amino acid transporter)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; amino acid transmembrane transporter activity [GO:0015171]; arginine transmembrane transporter activity [GO:0015181]; L-lysine transmembrane transporter activity [GO:0015189]; L-ornithine transmembrane transporter activity [GO:0000064]; amino acid transport [GO:0006865]; L-arginine import across plasma membrane [GO:0097638]; L-ornithine transmembrane transport [GO:1903352]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q09143}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q14031
geneSymbol: COL4A6
name: Collagen alpha-6(IV) chain
length: 1691
go: ENSG00000197565;
snps: rs1042065 rs1042065 rs779748859 rs1042067 rs35179844 rs34466065 rs35363062
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
reactome:
R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-2022090;R-HSA-216083;R-HSA-2214320;R-HSA-2243919;R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-8948216;

sequence:

opentargets:
collagen type IV trimer [GO:0005587]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; cell adhesion [GO:0007155]; collagen-activated tyrosine kinase receptor signaling pathway [GO:0038063]; extracellular matrix organization [GO:0030198]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q14031-1; Sequence=Displayed; Name=B; IsoId=Q14031-2; Sequence=VSP_001174; 


uniprotID: Q6P4Q7
geneSymbol: CNNM4
pdb: 4IY3;
name: Metal transporter CNNM4 (Ancient conserved domain-containing protein 4) (Cyclin-M4)
length: 775
go: ENSG00000158158;
snps: rs17855817 rs79424354 rs75267011 rs74552543
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; dendrite [GO:0030425]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; protein-containing complex [GO:0032991]; magnesium ion transmembrane transporter activity [GO:0015095]; sodium ion transmembrane transporter activity [GO:0015081]; enamel mineralization [GO:0070166]; magnesium ion homeostasis [GO:0010960]; metal ion homeostasis [GO:0055065]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P4Q7-1; Sequence=Displayed; Name=2; IsoId=Q6P4Q7-2; Sequence=VSP_054271, VSP_054272; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22399287}; Multi-pass membrane protein {ECO:0000269|PubMed:22399287}.


uniprotID: Q8TBE1
geneSymbol: CNIH3
reactome: R-HSA-204005;R-HSA-5694530;
name: Protein cornichon homolog 3 (CNIH-3) (Cornichon family AMPA receptor auxiliary protein 3)
length: 160
go: ENSG00000143786;
sequence:
MAFTFAAFCYMLSLVLCAALIFFAIWHIIAFDELRTDFKSPIDQCNPVHARERLRNIERICFLLRKLVLPEYSIHSLFCIMFLCAQEWLTLGLNVPLLFYHFWRYFHCPADSSELAYDPPVVMNADTLSYCQKEAWCKLAFYLLSFFYYLYCMIYTLVSS

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; dendritic shaft [GO:0043198]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; postsynaptic membrane [GO:0045211]; channel regulator activity [GO:0016247]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; regulation of AMPA receptor activity [GO:2000311]; regulation of membrane potential [GO:0042391]; synaptic transmission, glutamatergic [GO:0035249]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Also localizes to the cell membrane of extrasynaptic sites (dendritic shafts, spines of pyramidal cells). {ECO:0000250}.


uniprotID: Q9P003
geneSymbol: CNIH4
name: Protein cornichon homolog 4 (CNIH-4) (Cornichon family AMPA receptor auxiliary protein 4)
length: 139
go: ENSG00000143771;
snps: rs12123896
sequence:
MEAVVFVFSLLDCCALIFLSVYFIITLSDLECDYINARSCCSKLNKWVIPELIGHTIVTVLLLMSLHWFIFLLNLPVATWNIYRYIMVPSGNMGVFDPTEIHNRGQLKSHMKEAMIKLGFHLLCFFMYLYSMILALIND

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; integral component of membrane [GO:0016021]; CCR5 chemokine receptor binding [GO:0031730]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P003-1; Sequence=Displayed; Name=2; IsoId=Q9P003-2; Sequence=VSP_013466; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum {ECO:0000269|PubMed:24405750}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269|PubMed:24405750}.


uniprotID: P05997
geneSymbol: COL5A2
pdb: 1A9A;
name: Collagen alpha-2(V) chain
length: 1499
go: ENSG00000204262;
snps: rs35830636 rs35852101 rs116298748 rs6434313 rs1186550791 rs767234623 rs141777954
reactome:
R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-186797;R-HSA-2022090;R-HSA-216083;R-HSA-3000170;R-HSA-3000171;R-HSA-3000178;R-HSA-419037;R-HSA-8874081;R-HSA-8948216;

sequence:

opentargets:
collagen trimer [GO:0005581]; collagen type V trimer [GO:0005588]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; metal ion binding [GO:0046872]; SMAD binding [GO:0046332]; cellular response to amino acid stimulus [GO:0071230]; collagen fibril organization [GO:0030199]; extracellular matrix organization [GO:0030198]; eye morphogenesis [GO:0048592]; negative regulation of endodermal cell differentiation [GO:1903225]; notochord development [GO:0030903]; ossification [GO:0001503]; skeletal system development [GO:0001501]; skin development [GO:0043588]


uniprotID: Q92600
geneSymbol: CNOT9
reactome: R-HSA-429947;R-HSA-5617472;R-HSA-6804115;
pdb: 2FV2;4CRU;4CRV;4CT6;4CT7;5LSW;5ONA;5ONB;
name: CCR4-NOT transcription complex subunit 9 (Cell differentiation protein RQCD1 homolog) (Rcd-1)
length: 299
go: ENSG00000144580;
sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; CCR4-NOT core complex [GO:0030015]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; P-body [GO:0000932]; protein-containing complex [GO:0032991]; epidermal growth factor receptor binding [GO:0005154]; kinase binding [GO:0019900]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; cytokine-mediated signaling pathway [GO:0019221]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; gene silencing by RNA [GO:0031047]; negative regulation of intracellular estrogen receptor signaling pathway [GO:0033147]; negative regulation of translation [GO:0017148]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of nuclear receptor transcription coactivator activity [GO:2000327]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; sex differentiation [GO:0007548]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92600-1; Sequence=Displayed; Name=2; IsoId=Q92600-2; Sequence=VSP_054371; Note=No experimental confirmation available.; Name=3; IsoId=Q92600-3; Sequence=VSP_055744, VSP_055745; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9JKY0}. Cytoplasm, P-body {ECO:0000250|UniProtKB:Q9JKY0}. Note=NANOS2 promotes its localization to P-body. {ECO:0000250|UniProtKB:Q9JKY0}.


uniprotID: Q96BR5
geneSymbol: COA7
length: 231
go: ENSG00000162377;
opentargets: mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; nucleus [GO:0005634]
snps: rs443751
location: SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:24333015}.
name:
Cytochrome c oxidase assembly factor 7 (Beta-lactamase hcp-like protein) (Respiratory chain assembly factor 1) (Sel1 repeat-containing protein 1)

sequence:


uniprotID: Q6UB35
geneSymbol: MTHFD1L
reactome: R-HSA-196757;
length: 978
go: ENSG00000120254;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12937168}.
name:
Monofunctional C1-tetrahydrofolate synthase, mitochondrial (EC 6.3.4.3) (Formyltetrahydrofolate synthetase)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; formate-tetrahydrofolate ligase activity [GO:0004329]; methylenetetrahydrofolate dehydrogenase (NADP+) activity [GO:0004488]; protein homodimerization activity [GO:0042803]; 10-formyltetrahydrofolate biosynthetic process [GO:0009257]; embryonic neurocranium morphogenesis [GO:0048702]; embryonic viscerocranium morphogenesis [GO:0048703]; folic acid metabolic process [GO:0046655]; folic acid-containing compound metabolic process [GO:0006760]; formate metabolic process [GO:0015942]; neural tube closure [GO:0001843]; purine nucleobase biosynthetic process [GO:0009113]; tetrahydrofolate interconversion [GO:0035999]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UB35-1; Sequence=Displayed; Name=2; IsoId=Q6UB35-2; Sequence=VSP_034565, VSP_034566; 


uniprotID: Q9P296
geneSymbol: C5AR2
reactome: R-HSA-375276;R-HSA-977606;
length: 337
go: ENSG00000134830;
snps: rs149572881 rs150599989
name:
C5a anaphylatoxin chemotactic receptor 2 (Complement component 5a receptor 2) (G-protein coupled receptor 77)

sequence:

opentargets:
apical part of cell [GO:0045177]; basal plasma membrane [GO:0009925]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; complement component C5a receptor activity [GO:0004878]; G protein-coupled receptor activity [GO:0004930]; chemotaxis [GO:0006935]; complement receptor mediated signaling pathway [GO:0002430]; inflammatory response [GO:0006954]; negative regulation of interleukin-6 secretion [GO:1900165]; negative regulation of neutrophil chemotaxis [GO:0090024]; negative regulation of tumor necrosis factor production [GO:0032720]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; regulation of complement activation [GO:0030449]; regulation of interleukin-8 secretion [GO:2000482]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19615750}; Multi-pass membrane protein {ECO:0000269|PubMed:19615750}.


uniprotID: Q9NSG2
geneSymbol: C1orf112
name: Uncharacterized protein C1orf112
length: 853
go: ENSG00000000460;
snps: rs2272920
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NSG2-1; Sequence=Displayed; Name=2; IsoId=Q9NSG2-2; Sequence=VSP_023445; Name=3; IsoId=Q9NSG2-3; Sequence=VSP_023444; 


uniprotID: P20851
geneSymbol: C4BPB
reactome: R-HSA-977606;
name: C4b-binding protein beta chain
length: 252
go: ENSG00000123843;
snps: rs56258224 rs1803226
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; other organism cell [GO:0044216]; plasma membrane [GO:0005886]; blood coagulation [GO:0007596]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; negative regulation of complement activation, classical pathway [GO:0045959]; positive regulation of protein catabolic process [GO:0045732]; regulation of complement activation [GO:0030449]; regulation of opsonization [GO:1903027]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P20851-1; Sequence=Displayed; Name=2; IsoId=P20851-2; Sequence=VSP_022594; Note=No experimental confirmation available.; 


uniprotID: Q9NZU7
geneSymbol: CABP1
pdb: 2K7B;2K7C;2K7D;2LAN;2LAP;3OX5;3OX6;
name: Calcium-binding protein 1 (CaBP1) (Calbrain) (Caldendrin)
length: 370
go: ENSG00000157782;
sequence:

opentargets:
cell cortex [GO:0005938]; cell junction [GO:0030054]; cytoskeleton [GO:0005856]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; enzyme inhibitor activity [GO:0004857]; nuclear localization sequence binding [GO:0008139]; negative regulation of protein import into nucleus [GO:0042308]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=Caldendrin; IsoId=Q9NZU7-4; Sequence=Displayed; Name=L-CaBP1; Synonyms=Caldendrin-S2; IsoId=Q9NZU7-1; Sequence=VSP_037938, VSP_037939; Name=S-CaBP1; Synonyms=Caldendrin-S1; IsoId=Q9NZU7-2; Sequence=VSP_037937, VSP_037940; Name=Calbrain; IsoId=Q9NZU7-3; Sequence=VSP_037936; Note=It is currently uncertain whether calbrain represent a spliced isoform.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10625670}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:14685260}. Cell membrane {ECO:0000269|PubMed:10625670, ECO:0000269|PubMed:14570872, ECO:0000269|PubMed:14685260}; Lipid-anchor; Cytoplasmic side. Golgi apparatus {ECO:0000269|PubMed:14570872, ECO:0000269|PubMed:14685260}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000305}. Note=L-CaBP1 is associated most likely with the cytoskeletal structures, whereas S-CaBP1 is localized at or near the plasma membrane. {ECO:0000269|PubMed:10625670}.; SUBCELLULAR LOCATION: Isoform L-CaBP1: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10625670}. Note=L-CaBP1 is associated most likely with the cytoskeletal structures. {ECO:0000269|PubMed:10625670}.; SUBCELLULAR LOCATION: Isoform S-CaBP1: Cytoplasm, cell cortex. Cell membrane {ECO:0000305|PubMed:10625670}; Lipid-anchor {ECO:0000305}. Note=S-CaBP1 is localized at or near the plasma membrane.


uniprotID: O75952
geneSymbol: CABYR
length: 493
go: ENSG00000154040;
snps: rs3786417 rs35118855 rs1049682 rs1049683
name:
Calcium-binding tyrosine phosphorylation-regulated protein (Calcium-binding protein 86) (Cancer/testis antigen 88) (CT88) (Fibrousheathin II) (Fibrousheathin-2) (FSP-2) (Testis-specific calcium-binding protein CBP86)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; motile cilium [GO:0031514]; nucleus [GO:0005634]; sperm end piece [GO:0097229]; sperm fibrous sheath [GO:0035686]; sperm principal piece [GO:0097228]; calcium ion binding [GO:0005509]; enzyme binding [GO:0019899]; protein heterodimerization activity [GO:0046982]; SH3 domain binding [GO:0017124]; epithelial cilium movement [GO:0003351]; sperm capacitation [GO:0048240]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O75952-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; Synonyms=CBP86-VII; IsoId=O75952-2; Sequence=VSP_016247; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; Synonyms=CBP86-II; IsoId=O75952-3; Sequence=VSP_016248, VSP_016251; Name=4; Synonyms=CBP86-IV; IsoId=O75952-4; Sequence=VSP_016249, VSP_016250; Name=5; Synonyms=CBP86-III; IsoId=O75952-5; Sequence=VSP_016246, VSP_016248, VSP_016251; Name=6; Synonyms=CBP86-VI; IsoId=O75952-6; Sequence=VSP_016245; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell projection, cilium, flagellum. Note=Localized to fibrous sheath including the surface of the longitudinal columns and ribs of the principal piece of sperm flagella.; SUBCELLULAR LOCATION: Isoform 1: Nucleus. Cytoplasm. Cell projection, cilium, flagellum. Note=According to PubMed:15752768, isoform 1, isoform 3 and isoform 5 are both nuclear and cytoplasmic.; SUBCELLULAR LOCATION: Isoform 3: Nucleus. Cytoplasm. Cell projection, cilium, flagellum. Note=According to PubMed:15752768, isoform 1, isoform 3 and isoform 5 are both nuclear and cytoplasmic.; SUBCELLULAR LOCATION: Isoform 5: Nucleus. Cytoplasm. Cell projection, cilium, flagellum. Note=According to PubMed:15752768, isoform 1, isoform 3 and isoform 5 are both nuclear and cytoplasmic.


uniprotID: P40123
geneSymbol: CAP2
reactome: R-HSA-428890;
name: Adenylyl cyclase-associated protein 2 (CAP 2)
length: 477
go: ENSG00000112186;
snps: rs34620829 rs34206659
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
sequence:

opentargets:
cortical actin cytoskeleton [GO:0030864]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; actin binding [GO:0003779]; adenylate cyclase binding [GO:0008179]; identical protein binding [GO:0042802]; actin polymerization or depolymerization [GO:0008154]; activation of adenylate cyclase activity [GO:0007190]; cell morphogenesis [GO:0000902]; establishment or maintenance of cell polarity [GO:0007163]; regulation of adenylate cyclase activity [GO:0045761]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P40123-1; Sequence=Displayed; Name=2; IsoId=P40123-2; Sequence=VSP_055520; Note=No experimental confirmation available.; Name=3; IsoId=P40123-3; Sequence=VSP_055519; Note=No experimental confirmation available.; 


uniprotID: Q6MZZ7
geneSymbol: CAPN13
reactome: R-HSA-1474228;
pdb: 2I7A;
name: Calpain-13 (EC 3.4.22.-) (Calcium-activated neutral proteinase 13) (CANP 13)
length: 669
go: ENSG00000162949;
snps: rs17010210 rs508405 rs2276568
sequence:

opentargets:
cytoplasm [GO:0005737]; calcium ion binding [GO:0005509]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6MZZ7-1; Sequence=Displayed; Name=2; IsoId=Q6MZZ7-2; Sequence=VSP_021476, VSP_021477; Note=No experimental confirmation available.; 


uniprotID: P55291
geneSymbol: CDH15
reactome: R-HSA-375170;R-HSA-418990;
name: Cadherin-15 (Cadherin-14) (Muscle cadherin) (M-cadherin)
length: 814
go: ENSG00000129910;
snps: rs567903921 rs121434539 rs121434540 rs121434541
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
catenin complex [GO:0016342]; caveola [GO:0005901]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; neuromuscular junction [GO:0031594]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; positive regulation of muscle cell differentiation [GO:0051149]


uniprotID: Q9NYX4
geneSymbol: CALY
name: Neuron-specific vesicular protein calcyon
length: 217
go: ENSG00000130643;
drug: DB05419;DB00714;DB00363;DB05432;DB00831;
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytoplasmic vesicle membrane [GO:0030659]; endosome [GO:0005768]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; postsynaptic endocytic zone [GO:0098843]; cargo receptor activity [GO:0038024]; clathrin light chain binding [GO:0032051]; protein-containing complex binding [GO:0044877]; clathrin coat assembly [GO:0048268]; dopamine receptor signaling pathway [GO:0007212]; endosomal transport [GO:0016197]; positive regulation of endocytosis [GO:0045807]; postsynaptic neurotransmitter receptor internalization [GO:0098884]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NYX4-1; Sequence=Displayed; Name=2; IsoId=Q9NYX4-2; Sequence=VSP_034474, VSP_034475; Note=Gene prediction based on EST data.; Name=3; IsoId=Q9NYX4-3; Sequence=VSP_034473; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Single-pass membrane protein. Cell membrane; Single-pass membrane protein.


uniprotID: P17655
geneSymbol: CAPN2
reactome: R-HSA-1474228;R-HSA-8862803;
pdb: 1KFU;1KFX;2NQA;
length: 700
go: ENSG00000162909;
snps: rs25655 rs2230083 rs9804140 rs28370127 rs17599 rs2230082
name:
Calpain-2 catalytic subunit (EC 3.4.22.53) (Calcium-activated neutral proteinase 2) (CANP 2) (Calpain M-type) (Calpain large polypeptide L2) (Calpain-2 large subunit) (Millimolar-calpain) (M-calpain)

sequence:

opentargets:
chromatin [GO:0000785]; cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; lysosome [GO:0005764]; membrane raft [GO:0045121]; nucleus [GO:0005634]; perinuclear endoplasmic reticulum [GO:0097038]; plasma membrane [GO:0005886]; pseudopodium [GO:0031143]; calcium ion binding [GO:0005509]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; cysteine-type peptidase activity [GO:0008234]; cytoskeletal protein binding [GO:0008092]; enzyme binding [GO:0019899]; protein heterodimerization activity [GO:0046982]; blastocyst development [GO:0001824]; cellular response to amino acid stimulus [GO:0071230]; myoblast fusion [GO:0007520]; protein autoprocessing [GO:0016540]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of cytoskeleton organization [GO:0051493]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P17655-1; Sequence=Displayed; Name=2; IsoId=P17655-2; Sequence=VSP_043027, VSP_043028; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Note=Translocates to the plasma membrane upon Ca(2+) binding.


uniprotID: Q5TID7
geneSymbol: CCDC181
name: Coiled-coil domain-containing protein 181
length: 509
go: ENSG00000117477;
snps: rs3820059 rs35107735 rs35287513
sequence:

opentargets:
cytoplasm [GO:0005737]; manchette [GO:0002177]; microtubule [GO:0005874]; sperm flagellum [GO:0036126]; microtubule binding [GO:0008017]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5TID7-1; Sequence=Displayed; Name=2; IsoId=Q5TID7-2; Sequence=VSP_023448; Note=No experimental confirmation available.; Name=3; IsoId=Q5TID7-3; Sequence=VSP_023449; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q80ZU5}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q80ZU5}. Note=Localizes to the microtubular manchette of elongating spermatids. Localizes to the sperm flagella and to the basal half of motile cilia. {ECO:0000250|UniProtKB:Q80ZU5}.


uniprotID: Q8N715
geneSymbol: CCDC185
name: Coiled-coil domain-containing protein 185
length: 623
go: ENSG00000178395;
snps: rs6689850 rs10907376 rs6682552 rs17852896
sequence:


uniprotID: A0A096LP49
geneSymbol: CCDC187
name: Coiled-coil domain-containing protein 187
length: 1063
go: ENSG00000260220;
opentargets: centrosome [GO:0005813]; microtubule binding [GO:0008017]; microtubule anchoring [GO:0034453]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A0A096LP49-1; Sequence=Displayed; Name=2; IsoId=A0A096LP49-2; Sequence=VSP_058066; 


uniprotID: Q96PX6
geneSymbol: CCDC85A
name: Coiled-coil domain-containing protein 85A
length: 553
go: ENSG00000055813;
sequence:


uniprotID: P28906
geneSymbol: CD34
reactome: R-HSA-198933;
name: Hematopoietic progenitor cell antigen CD34 (CD antigen CD34)
length: 385
go: ENSG00000174059;
snps: rs28362497
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; glomerular endothelium fenestra [GO:0036053]; integral component of plasma membrane [GO:0005887]; intercellular bridge [GO:0045171]; lysosome [GO:0005764]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; sulfate binding [GO:0043199]; transcription factor binding [GO:0008134]; cell motility [GO:0048870]; cell proliferation [GO:0008283]; cell-cell adhesion [GO:0098609]; endothelial cell proliferation [GO:0001935]; endothelium development [GO:0003158]; extracellular exosome assembly [GO:0071971]; glomerular endothelium development [GO:0072011]; glomerular filtration [GO:0003094]; hematopoietic stem cell proliferation [GO:0071425]; hemopoiesis [GO:0030097]; leukocyte migration [GO:0050900]; mesangial cell-matrix adhesion [GO:0035759]; metanephric glomerular mesangial cell differentiation [GO:0072254]; negative regulation of blood coagulation [GO:0030195]; negative regulation of cellular response to heat [GO:1900035]; negative regulation of cellular response to hypoxia [GO:1900038]; negative regulation of gene expression [GO:0010629]; negative regulation of interleukin-2 secretion [GO:1900041]; negative regulation of neuron death [GO:1901215]; negative regulation of nitric oxide biosynthetic process [GO:0045019]; negative regulation of tumor necrosis factor production [GO:0032720]; paracrine signaling [GO:0038001]; positive regulation of angiogenesis [GO:0045766]; positive regulation of gene expression [GO:0010628]; positive regulation of glial cell-derived neurotrophic factor secretion [GO:1900168]; positive regulation of granulocyte colony-stimulating factor production [GO:0071657]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of odontogenesis [GO:0042482]; positive regulation of transforming growth factor beta production [GO:0071636]; positive regulation of vasculogenesis [GO:2001214]; regulation of blood pressure [GO:0008217]; regulation of immune response [GO:0050776]; signal transduction [GO:0007165]; stem cell proliferation [GO:0072089]; tissue homeostasis [GO:0001894]; transdifferentiation [GO:0060290]; vascular wound healing [GO:0061042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Both isoforms are expressed on the cell surface. CD34-T/CD34-F ratio increases with cell differentiation.; Name=CD34-F; IsoId=P28906-1; Sequence=Displayed; Name=CD34-T; IsoId=P28906-2; Sequence=VSP_004159, VSP_004160; 


uniprotID: P16671
geneSymbol: CD36
pdb: 5LGD;
length: 472
go: ENSG00000135218;
reactome:
R-HSA-114608;R-HSA-1236973;R-HSA-1236974;R-HSA-166058;R-HSA-168188;R-HSA-1989781;R-HSA-3000471;R-HSA-381340;R-HSA-5602498;R-HSA-5603041;R-HSA-5686938;R-HSA-6785807;R-HSA-6798695;

name:
Platelet glycoprotein 4 (Fatty acid translocase) (FAT) (Glycoprotein IIIb) (GPIIIB) (Leukocyte differentiation antigen CD36) (PAS IV) (PAS-4) (Platelet collagen receptor) (Platelet glycoprotein IV) (GPIV) (Thrombospondin receptor) (CD antigen CD36)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; cell surface [GO:0009986]; endocytic vesicle membrane [GO:0030666]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; membrane [GO:0016020]; membrane raft [GO:0045121]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; receptor complex [GO:0043235]; specific granule membrane [GO:0035579]; amyloid-beta binding [GO:0001540]; high-density lipoprotein particle binding [GO:0008035]; lipid binding [GO:0008289]; lipoprotein particle binding [GO:0071813]; lipoteichoic acid receptor activity [GO:0070892]; low-density lipoprotein particle binding [GO:0030169]; low-density lipoprotein particle receptor activity [GO:0005041]; oxidised low-density lipoprotein particle receptor activity [GO:0150025]; scavenger receptor activity [GO:0005044]; thrombospondin receptor activity [GO:0070053]; Toll-like receptor binding [GO:0035325]; transforming growth factor beta binding [GO:0050431]; amyloid fibril formation [GO:1990000]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; apoptotic cell clearance [GO:0043277]; blood coagulation [GO:0007596]; cell adhesion [GO:0007155]; cellular response to amyloid-beta [GO:1904646]; cellular response to diacyl bacterial lipopeptide [GO:0071726]; cellular response to hydroperoxide [GO:0071447]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to lipoteichoic acid [GO:0071223]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; cellular response to oxidised low-density lipoprotein particle stimulus [GO:0140052]; cGMP-mediated signaling [GO:0019934]; cholesterol import [GO:0070508]; cholesterol transport [GO:0030301]; cytokine-mediated signaling pathway [GO:0019221]; defense response to Gram-positive bacterium [GO:0050830]; energy homeostasis [GO:0097009]; interleukin-1 beta secretion [GO:0050702]; intestinal absorption [GO:0050892]; intestinal cholesterol absorption [GO:0030299]; lipid metabolic process [GO:0006629]; lipid storage [GO:0019915]; lipoprotein transport [GO:0042953]; long-chain fatty acid import [GO:0044539]; low-density lipoprotein particle clearance [GO:0034383]; low-density lipoprotein particle mediated signaling [GO:0055096]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of growth of symbiont in host [GO:0044130]; negative regulation of protein import into nucleus [GO:0042308]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neutrophil degranulation [GO:0043312]; nitric oxide mediated signal transduction [GO:0007263]; oxidised low-density lipoprotein particle clearance [GO:0150024]; phagocytosis, recognition [GO:0006910]; plasma lipoprotein particle clearance [GO:0034381]; platelet degranulation [GO:0002576]; positive regulation of blood coagulation [GO:0030194]; positive regulation of blood microparticle formation [GO:2000334]; positive regulation of cell death [GO:0010942]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of cholesterol storage [GO:0010886]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of macrophage cytokine production [GO:0060907]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of NLRP3 inflammasome complex assembly [GO:1900227]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phagocytosis, engulfment [GO:0060100]; positive regulation of reactive oxygen species biosynthetic process [GO:1903428]; positive regulation of tumor necrosis factor production [GO:0032760]; receptor internalization [GO:0031623]; receptor-mediated endocytosis [GO:0006898]; regulation of lipid metabolic process [GO:0019216]; regulation of protein heterodimerization activity [GO:0043497]; regulation of removal of superoxide radicals [GO:2000121]; regulation of toll-like receptor signaling pathway [GO:0034121]; response to fatty acid [GO:0070542]; response to linoleic acid [GO:0070543]; response to lipid [GO:0033993]; response to stilbenoid [GO:0035634]; sensory perception of taste [GO:0050909]; toll-like receptor signaling pathway [GO:0002224]; toll-like receptor TLR6:TLR2 signaling pathway [GO:0038124]; triglyceride transport [GO:0034197]

snps:
rs75326924 rs183461468 rs201765331 rs5957 rs756525492 rs142186404 rs370072057 rs148910227 rs121918035 rs200771788 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P16671-1; Sequence=Displayed; Name=2; Synonyms=ex8-del; IsoId=P16671-2; Sequence=VSP_055978, VSP_055979; Name=3; Synonyms=ex6-7-del; IsoId=P16671-3; Sequence=VSP_055977; Name=4; Synonyms=ex4-del; IsoId=P16671-4; Sequence=VSP_055976; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16880211}; Multi-pass membrane protein {ECO:0000255}. Membrane raft {ECO:0000269|PubMed:16880211}. Golgi apparatus {ECO:0000269|PubMed:16880211}. Apical cell membrane {ECO:0000250|UniProtKB:Q08857}. Note=Upon ligand-binding, internalized through dynamin-dependent endocytosis. {ECO:0000269|PubMed:20037584}.


uniprotID: Q5VXM1
geneSymbol: CDCP2
name: CUB domain-containing protein 2
length: 449
go: ENSG00000157211;
opentargets: extracellular region [GO:0005576]
snps: rs3766465
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VXM1-1; Sequence=Displayed; Name=2; IsoId=Q5VXM1-2; Sequence=VSP_028212, VSP_028213; Note=No experimental confirmation available.; 


uniprotID: Q6P1X6
geneSymbol: C8orf82
name: UPF0598 protein C8orf82
length: 216
go: ENSG00000213563;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P1X6-1; Sequence=Displayed; Name=2; IsoId=Q6P1X6-2; Sequence=VSP_034215; Note=No experimental confirmation available.; 


uniprotID: Q8N2Z9
geneSymbol: CENPS
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-6783310;R-HSA-68877;
pdb: 4DRA;4DRB;4E44;4E45;4NDY;4NE1;4NE3;4NE5;4NE6;
length: 138
go: ENSG00000175279;
name:
Centromere protein S (CENP-S) (Apoptosis-inducing TAF9-like domain-containing protein 1) (FANCM-associated histone fold protein 1) (FANCM-interacting histone fold protein 1) (Fanconi anemia-associated polypeptide of 16 kDa)

sequence:
MEEEAETEEQQRFSYQQRLKAAVHYTVGCLCEEVALDKEMQFSKQTIAAISELTFRQCENFAKDLEMFARHAKRTTINTEDVKLLARRSNSLLKYITDKSEEIAQINLERKAQKKKKSEDGSKNSRQPAEAGVVESEN

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; FANCM-MHF complex [GO:0071821]; Fanconi anaemia nuclear complex [GO:0043240]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; double-stranded DNA binding [GO:0003690]; protein heterodimerization activity [GO:0046982]; cell division [GO:0051301]; cellular response to DNA damage stimulus [GO:0006974]; CENP-A containing nucleosome assembly [GO:0034080]; DNA repair [GO:0006281]; interstrand cross-link repair [GO:0036297]; kinetochore assembly [GO:0051382]; positive regulation of protein ubiquitination [GO:0031398]; replication fork processing [GO:0031297]; resolution of meiotic recombination intermediates [GO:0000712]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N2Z9-1; Sequence=Displayed; Name=2; IsoId=Q8N2Z9-2; Sequence=VSP_020434; Note=No experimental confirmation available.; Name=3; IsoId=Q8N2Z9-3; Sequence=VSP_020432, VSP_020433; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19620631, ECO:0000269|PubMed:20347428, ECO:0000269|PubMed:24522885}. Chromosome, centromere {ECO:0000269|PubMed:19620631, ECO:0000269|PubMed:24522885}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:19620631}. Note=Assembly of CENPS and CENPX and its partner subunits CENPT and CENPW at centromeres occurs through a dynamic exchange mechanism. Although exchange is continuous in the cell cycle, de novo assembly starts principally during mid-late S phase and is complete by G2. CENPS is more stably bound at the kinetochore than CENPX (PubMed:19620631, PubMed:24522885). During S phase, rapidly recruited to DNA interstrand cross-links that block replication (PubMed:20347428). Recruited to DNA damage sites about 20 minutes following UV irradiation, reaching a plateau after approximately 40 minutes (PubMed:24522885). {ECO:0000269|PubMed:19620631, ECO:0000269|PubMed:20347428, ECO:0000269|PubMed:24522885}.


uniprotID: Q86T23
geneSymbol: CROCCP2
length: 111
opentargets: ciliary rootlet [GO:0035253]; centrosome cycle [GO:0007098]
name:
Putative ciliary rootlet coiled-coil protein-like 1 protein (Ciliary rootlet coiled-coil protein pseudogene 2)

sequence:
MLQAKKTEVAEALTKAEAGRMELELSVTKLRAEEASLQDSLSKLSALNESLAQDKLDLNCLVTQLEEEKAMLQGRQRQAEQEATVAPAEQEWLEELWLEQEVARQGLEGSL


uniprotID: Q9NSP4
geneSymbol: CENPM
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
pdb: 4P0T;4WAU;
length: 180
go: ENSG00000100162;
name:
Centromere protein M (CENP-M) (Interphase centromere complex protein 39) (Proliferation-associated nuclear element protein 1)

sequence:
MSVLRPLDKLPGLNTATILLVGTEDALLQQLADSMLKEDCASELKVHLAKSLPLPSSVNRPRIDLIVFVVNLHSKYSLQNTEESLRHVDASFFLGKVCFLATGAGRESHCSIHRHTVVKLAHTYQSPLLYCDLEVEGFRATMAQRLVRVLQICAGHVPGVSALNLLSLLRSSEGPSLEDL

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; CENP-A containing nucleosome assembly [GO:0034080]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NSP4-1; Sequence=Displayed; Name=2; IsoId=Q9NSP4-2; Sequence=VSP_010259, VSP_010260; Note=Due to intron retention. No experimental confirmation available.; Name=3; IsoId=Q9NSP4-3; Sequence=VSP_017726, VSP_017725; Name=4; IsoId=Q9NSP4-4; Sequence=VSP_046189; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Chromosome, centromere, kinetochore. Note=Nuclear in non-confluent cells and cytoplasmic in confluent or dividing cells (By similarity). Localizes in the kinetochore domain of centromeres. {ECO:0000250}.


uniprotID: Q96CB5
geneSymbol: C8orf44
name: Putative uncharacterized protein C8orf44
length: 159
go: ENSG00000213865;
opentargets: nucleoplasm [GO:0005654]
snps: rs1909534 rs1057463
sequence:
MRKNESYLNQPAPPIPIPTLSLMGGCREHFENHWKGRARWLMPVIPALWEAKAGRSPEVRSSKPAWPTWRNPIFTKNTKISQVLELFLNYQSLICALEKQKRQKGSLAIFCWSFQGGCVSKRPDVPSLKSQKPKRKRITGRKRLSKGFWSLLFSNLGRF


uniprotID: P36222
geneSymbol: CHI3L1
reactome: R-HSA-6798695;
pdb: 1HJV;1HJW;1HJX;1LA7;1NWR;1NWS;1NWT;1NWU;
length: 383
go: ENSG00000133048;
snps: rs880633 rs1049407
name:
Chitinase-3-like protein 1 (39 kDa synovial protein) (Cartilage glycoprotein 39) (CGP-39) (GP-39) (hCGP-39) (YKL-40)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; perinuclear region of cytoplasm [GO:0048471]; specific granule lumen [GO:0035580]; carbohydrate binding [GO:0030246]; chitin binding [GO:0008061]; extracellular matrix structural constituent [GO:0005201]; activation of NF-kappaB-inducing kinase activity [GO:0007250]; apoptotic process [GO:0006915]; carbohydrate metabolic process [GO:0005975]; cartilage development [GO:0051216]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; inflammatory response [GO:0006954]; interleukin-8 secretion [GO:0072606]; lung development [GO:0030324]; neutrophil degranulation [GO:0043312]; positive regulation of angiogenesis [GO:0045766]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of protein kinase B signaling [GO:0051897]; response to interleukin-1 [GO:0070555]; response to interleukin-6 [GO:0070741]; response to mechanical stimulus [GO:0009612]; response to tumor necrosis factor [GO:0034612]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000269|PubMed:9492324}. Cytoplasm {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.


uniprotID: Q15782
geneSymbol: CHI3L2
pdb: 4AY1;4P8U;4P8V;4P8W;4P8X;
name: Chitinase-3-like protein 2 (Chondrocyte protein 39) (YKL-39)
length: 390
go: ENSG00000064886;
snps: rs11556868 rs34049547 rs13721
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; carbohydrate binding [GO:0030246]; chitin binding [GO:0008061]; hydrolase activity [GO:0016787]; carbohydrate metabolic process [GO:0005975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15782-4; Sequence=Displayed; Name=2; IsoId=Q15782-5; Sequence=VSP_044262; Name=3; IsoId=Q15782-6; Sequence=VSP_047245; 


uniprotID: O75718
geneSymbol: CRTAP
reactome: R-HSA-1650814;
name: Cartilage-associated protein
length: 401
go: ENSG00000170275;
snps: rs137853938 rs72659358 rs17850371 rs137853942 rs1135127
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular space [GO:0005615]; protein-containing complex [GO:0032991]; protein-containing complex binding [GO:0044877]; chaperone-mediated protein folding [GO:0061077]; negative regulation of post-translational protein modification [GO:1901874]; peptidyl-proline hydroxylation to 3-hydroxy-L-proline [GO:0018400]; protein stabilization [GO:0050821]; spermatogenesis [GO:0007283]


uniprotID: A8MQ03
geneSymbol: CYSRT1
name: Cysteine-rich tail protein 1
length: 144
opentargets: extracellular exosome [GO:0070062]
sequence:
MDPQEMVVKNPYAHISIPRAHLRPDLGQQLEVASTCSSSSEMQPLPVGPCAPEPTHLLQPTEVPGPKGAKGNQGAAPIQNQQAWQQPGNPYSSSQRQAGLTYAGPPPAGRGDDIAHHCCCCPCCHCCHCPPFCRCHSCCCCVIS


uniprotID: Q6NUI6
geneSymbol: CHADL
name: Chondroadherin-like protein
length: 762
go: ENSG00000100399;
snps: rs9619955 rs9619954
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; collagen binding [GO:0005518]; collagen fibril binding [GO:0098633]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; negative regulation of chondrocyte differentiation [GO:0032331]; negative regulation of collagen fibril organization [GO:1904027]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NUI6-1; Sequence=Displayed; Name=2; IsoId=Q6NUI6-2; Sequence=VSP_027735; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25451920}. Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:E9Q7T7}.


uniprotID: Q9Y6H1
geneSymbol: CHCHD2
reactome: R-HSA-1268020;
length: 151
go: ENSG00000106153;
name:
Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 (Aging-associated gene 10 protein) (HCV NS2 trans-regulated protein) (NS2TP)

sequence:
MPRGSRSRTSRMAPPASRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVGSAVGHTLGHAITGGFSGGSNAEPARPDITYQEPQGTQPAQQQQPCLYEIKQFLECAQNQGDIKLCEGFNEVLKQCRLANGLA

opentargets:
mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; mitochondrion organization [GO:0007005]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cellular response to hypoxia [GO:1900037]

snps:
rs142444896 rs778328496 rs137965562 rs371198317 rs151213700 rs864309650 rs11546418 rs748182315 rs752169833 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23303788}. Mitochondrion {ECO:0000269|PubMed:25662902}. Mitochondrion intermembrane space {ECO:0000269|PubMed:25662902}. Note=Mainly localised in the intermembrane space. {ECO:0000269|PubMed:25662902}.


uniprotID: Q9BUK0
geneSymbol: CHCHD7
reactome: R-HSA-1268020;
pdb: 2LQT;
name: Coiled-coil-helix-coiled-coil-helix domain-containing protein 7
sequence: MPSVTQRLRDPDINPCLSESDASTRCLDENNYDRERCSTYFLRYKNCRRFWNSIVMQRRKNGVKPFMPTAAERDEILRAVGNMPY
length: 85
go: ENSG00000170791;
opentargets: mitochondrial intermembrane space [GO:0005758]
location: SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000305}.
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BUK0-1; Sequence=Displayed; Name=2; IsoId=Q9BUK0-2; Sequence=VSP_038076; Name=3; IsoId=Q9BUK0-3; Sequence=VSP_038076, VSP_038077; Name=4; IsoId=Q9BUK0-4; Sequence=VSP_046698; Note=Gene prediction based on EST data.; Name=5; IsoId=Q9BUK0-5; Sequence=VSP_038077; 


uniprotID: P19022
geneSymbol: CDH2
reactome: R-HSA-375170;R-HSA-381426;R-HSA-418990;R-HSA-8957275;
name: Cadherin-2 (CDw325) (Neural cadherin) (N-cadherin) (CD antigen CD325)
length: 906
go: ENSG00000170558;
snps: rs17495042 rs17445840 rs1041970 rs1041972 rs17857112 rs2289664
sequence:

opentargets:
apical part of cell [GO:0045177]; apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; catenin complex [GO:0016342]; cell junction [GO:0030054]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; endoplasmic reticulum lumen [GO:0005788]; fascia adherens [GO:0005916]; focal adhesion [GO:0005925]; integral component of postsynaptic specialization membrane [GO:0099060]; integral component of presynaptic active zone membrane [GO:0099059]; intercalated disc [GO:0014704]; lamellipodium [GO:0030027]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; postsynaptic density [GO:0014069]; sarcolemma [GO:0042383]; synapse [GO:0045202]; alpha-catenin binding [GO:0045294]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; gamma-catenin binding [GO:0045295]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; adherens junction organization [GO:0034332]; blood vessel morphogenesis [GO:0048514]; brain morphogenesis [GO:0048854]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; cellular protein metabolic process [GO:0044267]; cerebral cortex development [GO:0021987]; glial cell differentiation [GO:0010001]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homeostasis of number of cells [GO:0048872]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; neuroepithelial cell differentiation [GO:0060563]; neuroligin clustering involved in postsynaptic membrane assembly [GO:0097118]; neuronal stem cell population maintenance [GO:0097150]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of synaptic vesicle clustering [GO:2000809]; post-translational protein modification [GO:0043687]; protein localization to plasma membrane [GO:0072659]; radial glial cell differentiation [GO:0060019]; regulation of axonogenesis [GO:0050770]; regulation of oligodendrocyte progenitor proliferation [GO:0070445]; regulation of postsynaptic density protein 95 clustering [GO:1902897]; regulation of synaptic transmission, glutamatergic [GO:0051966]; striated muscle cell differentiation [GO:0051146]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P19022-1; Sequence=Displayed; Name=2; IsoId=P19022-2; Sequence=VSP_056448; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P15116}; Single-pass type I membrane protein {ECO:0000255}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P15116}. Cell junction {ECO:0000269|PubMed:28169360}. Cell surface {ECO:0000250|UniProtKB:P15116}. Note=Colocalizes with TMEM65 at the intercalated disk in cardiomyocytes. Colocalizes with OBSCN at the intercalated disk and at sarcolemma in cardiomyocytes. {ECO:0000250|UniProtKB:P15116}.


uniprotID: P06881
geneSymbol: CALCA
reactome: R-HSA-418555;R-HSA-419812;
pdb: 1LS7;6E3Y;
name: Calcitonin gene-related peptide 1 (Alpha-type CGRP) (Calcitonin gene-related peptide I) (CGRP-I)
length: 128
go: ENSG00000110680;
drug: DB05760;DB04869;
snps: rs5239
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MGFQKFSPFLALSILVLLQAGSLHAAPFRSALESSPADPATLSEDEARLLLAALVQDYVQMKASELEQEQEREGSRIIAQKRACDTATCVTHRLAGLLSRSGGVVKNNFVPTNVGSKAFGRRRRDLQA

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; hormone activity [GO:0005179]; protein-containing complex binding [GO:0044877]; signaling receptor binding [GO:0005102]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; amylin receptor signaling pathway [GO:0097647]; antibacterial humoral response [GO:0019731]; antifungal humoral response [GO:0019732]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; calcitonin gene-related peptide receptor signaling pathway [GO:1990408]; cell-cell signaling [GO:0007267]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; endothelial cell migration [GO:0043542]; endothelial cell proliferation [GO:0001935]; G protein-coupled receptor internalization [GO:0002031]; G protein-coupled receptor signaling pathway [GO:0007186]; innate immune response [GO:0045087]; leukocyte cell-cell adhesion [GO:0007159]; negative regulation of blood pressure [GO:0045776]; negative regulation of bone resorption [GO:0045779]; negative regulation of calcium ion transport into cytosol [GO:0010523]; negative regulation of osteoclast differentiation [GO:0045671]; neurological system process involved in regulation of systemic arterial blood pressure [GO:0001976]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of interleukin-1 alpha production [GO:0032730]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of macrophage differentiation [GO:0045651]; protein phosphorylation [GO:0006468]; receptor internalization [GO:0031623]; regulation of blood pressure [GO:0008217]; regulation of cytosolic calcium ion concentration [GO:0051480]; response to yeast [GO:0001878]; vasculature development [GO:0001944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=P06881-1; Sequence=Displayed; Name=1; IsoId=P01258-1; Sequence=External; Name=2; IsoId=P01258-2; Sequence=External; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: P33151
geneSymbol: CDH5
reactome: R-HSA-418990;R-HSA-5218920;
name: Cadherin-5 (7B4 antigen) (Vascular endothelial cadherin) (VE-cadherin) (CD antigen CD144)
length: 784
go: ENSG00000179776;
drug: DB05685;DB00480;
snps: rs16956504 rs1049970
sequence:

opentargets:
bicellular tight junction [GO:0005923]; catenin complex [GO:0016342]; cell junction [GO:0030054]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; ion channel binding [GO:0044325]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; adherens junction organization [GO:0034332]; blood vessel maturation [GO:0001955]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; negative regulation of inflammatory response [GO:0050728]; positive regulation of angiogenesis [GO:0045766]; positive regulation of establishment of endothelial barrier [GO:1903142]; regulation of establishment of cell polarity [GO:2000114]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P33151-1; Sequence=Displayed; Name=2; IsoId=P33151-2; Sequence=VSP_053861; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction {ECO:0000269|PubMed:20332120}. Cell membrane {ECO:0000269|PubMed:15980433, ECO:0000305|PubMed:20332120}; Single-pass type I membrane protein {ECO:0000305|PubMed:20332120}. Note=Found at cell-cell boundaries and probably at cell-matrix boundaries. KRIT1 and CDH5 reciprocally regulate their localization to endothelial cell-cell junctions. {ECO:0000269|PubMed:20332120}.


uniprotID: Q86XJ0
geneSymbol: CALHM3
name: Calcium homeostasis modulator protein 3 (Protein FAM26A)
length: 350
go: ENSG00000183128;
opentargets: integral component of plasma membrane [GO:0005887]; ion transport [GO:0006811]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86XJ0-1; Sequence=Displayed; Name=2; IsoId=Q86XJ0-2; Sequence=VSP_014318; Note=No experimental confirmation available.; 


uniprotID: Q9NS85
geneSymbol: CA10
length: 328
go: ENSG00000154975;
drug: DB00909;
name:
Carbonic anhydrase-related protein 10 (Carbonic anhydrase-related protein X) (CA-RP X) (CARP X) (Cerebral protein 15)

sequence:

opentargets:
carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; brain development [GO:0007420]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NS85-1; Sequence=Displayed; Name=2; IsoId=Q9NS85-2; Sequence=VSP_056940; Note=No experimental confirmation available.; 


uniprotID: O00305
geneSymbol: CACNB4
reactome: R-HSA-112308;R-HSA-419037;R-HSA-5576892;R-HSA-5576893;
pdb: 2D46;
length: 520
go: ENSG00000182389;
drug: DB04855;DB01388;DB00393;DB00421;DB00661;
snps: rs1805031
name:
Voltage-dependent L-type calcium channel subunit beta-4 (CAB4) (Calcium channel voltage-dependent subunit beta 4)

sequence:

opentargets:
cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; synapse [GO:0045202]; voltage-gated calcium channel complex [GO:0005891]; calcium channel activity [GO:0005262]; high voltage-gated calcium channel activity [GO:0008331]; calcium ion transmembrane transport [GO:0070588]; chemical synaptic transmission [GO:0007268]; membrane depolarization [GO:0051899]; neuromuscular junction development [GO:0007528]; regulation of voltage-gated calcium channel activity [GO:1901385]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=4b; IsoId=O00305-1; Sequence=Displayed; Name=2; Synonyms=4a; IsoId=O00305-2; Sequence=VSP_000635; Name=3; IsoId=O00305-3; Sequence=VSP_043192; Note=No experimental confirmation available.; Name=4; Synonyms=4d; IsoId=O00305-4; Sequence=VSP_043193; Note=Unable to interact with the alpha-1 subunit.; 


uniprotID: Q96LZ3
geneSymbol: PPP3R2
length: 170
opentargets: calcium ion binding [GO:0005509]
drug: DB00091;DB04906;
name:
Calcineurin subunit B type 2 (Calcineurin B-like protein) (CBLP) (Calcineurin BII) (CNBII) (PPP3R1-like) (Protein phosphatase 2B regulatory subunit 2) (Protein phosphatase 3 regulatory subunit B beta isoform)

sequence:
MGNEASYPAEMCSHFDNDEIKRLGRRFKKLDLDKSGSLSVEEFMSLPELRHNPLVRRVIDVFDTDGDGEVDFKEFILGTSQFSVKGDEEQKLRFAFSIYDMDKDGYISNGELFQVLKMMVGNNLTDWQLQQLVDKTIIILDKDGDGKISFEEFSAVVRDLEIHKKLVLIV


uniprotID: Q6IMN6
geneSymbol: CAPRIN2
pdb: 4OUL;4OUM;5J97;
length: 1127
go: ENSG00000110888;
snps: rs17688567 rs12146709 rs2304630 rs2304628
name:
Caprin-2 (C1q domain-containing protein 1) (Cytoplasmic activation/proliferation-associated protein 2) (Gastric cancer multidrug resistance-associated protein) (Protein EEG-1) (RNA granule protein 140)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; signaling receptor binding [GO:0005102]; negative regulation of cell growth [GO:0030308]; negative regulation of translation [GO:0017148]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of dendrite morphogenesis [GO:0050775]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein binding [GO:0032092]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1 {ECO:0000269|PubMed:16541075}; IsoId=Q6IMN6-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:14593112}; Synonyms=EEG-1L {ECO:0000269|PubMed:14593112}; IsoId=Q6IMN6-2; Sequence=VSP_052536, VSP_027920; Name=3 {ECO:0000269|PubMed:15489334}; IsoId=Q6IMN6-3; Sequence=VSP_027920, VSP_052538, VSP_052539; Note=No experimental confirmation available. {ECO:0000305}; Name=4 {ECO:0000269|PubMed:14702039}; IsoId=Q6IMN6-4; Sequence=VSP_052531; Note=No experimental confirmation available. {ECO:0000305}; Name=5 {ECO:0000269|PubMed:14593112}; Synonyms=EEG-1S {ECO:0000269|PubMed:14593112}; IsoId=Q6IMN6-5; Sequence=VSP_052532, VSP_052533; Name=6 {ECO:0000269|Ref.5}; IsoId=Q6IMN6-6; Sequence=VSP_052534, VSP_052535; Name=7; IsoId=Q6IMN6-7; Sequence=VSP_052537, VSP_052538, VSP_052539; Note=No experimental confirmation available. {ECO:0000305}; Name=9; IsoId=Q6IMN6-9; Sequence=VSP_027920; Note=No experimental confirmation available.; Name=10; IsoId=Q6IMN6-10; Sequence=VSP_043293, VSP_052537, VSP_052538, VSP_052539; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 2: Mitochondrion. Cytoplasm. Note=Expressed throughout the cytoplasm.; SUBCELLULAR LOCATION: Isoform 5: Mitochondrion. Note=Colocalizes with aggregated mitochondria.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:27821587}; Peripheral membrane protein {ECO:0000305}.


uniprotID: P49069
geneSymbol: CAMLG
name: Calcium signal-modulating cyclophilin ligand (CAML)
length: 296
go: ENSG00000164615;
drug: DB00091;
snps: rs12657663 rs11552197
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; defense response [GO:0006952]; epidermal growth factor receptor signaling pathway [GO:0007173]; receptor recycling [GO:0001881]; signal transduction [GO:0007165]; viral process [GO:0016032]


uniprotID: P56202
geneSymbol: CTSW
reactome: R-HSA-114608;
name: Cathepsin W (EC 3.4.22.-) (Lymphopain)
length: 376
go: ENSG00000172543;
snps: rs604630 rs606830
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosome [GO:0005764]; membrane [GO:0016020]; platelet dense granule lumen [GO:0031089]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; immune response [GO:0006955]; platelet degranulation [GO:0002576]; proteolysis involved in cellular protein catabolic process [GO:0051603]


uniprotID: O60397
geneSymbol: COX7A2P2
name: Putative cytochrome c oxidase subunit 7A3, mitochondrial (Cytochrome c oxidase subunit VIIa 3)
length: 106
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}.
sequence:
MLWNLLALHQIGQRTISTASHRHFKNKVPEKQKLFQEDDGIPLYLKGGIADALLHRATMILTVGGTAYAIYQLAVASFPNKGVTSIIPAITWFTFIQLSMDQKSDK

opentargets:
mitochondrial respiratory chain [GO:0005746]; mitochondrial respiratory chain supercomplex [GO:0097249]; cytochrome-c oxidase activity [GO:0004129]; mitochondrial respiratory chain supercomplex assembly [GO:0097250]; regulation of oxidative phosphorylation [GO:0002082]


uniprotID: Q52MB2
geneSymbol: CCDC184
name: Coiled-coil domain-containing protein 184
length: 194
go: ENSG00000177875;
opentargets: cytoplasm [GO:0005737]
snps: rs10783231
sequence:
MEDGLLEIMTKDGGDMPAPLEVSTVPAVGDVISGEYNGGMKELMEHLKAQLQALFEDVRAMRGALDEQASHIQVLSDDVCANQRAIVSMCQIMTTAPRQGGLGVVGGKGSFQSDPQEPETPSPGIGDSGLLGRDPEDEEEEEEEKEMPSPATPSSHCERPESPCAGLLGGDGPLVEPLDMPDITLLQLEGEASL


uniprotID: P0DO97
geneSymbol: CCDC192
name: Coiled-coil domain-containing protein 192
length: 292
go: ENSG00000230561;
sequence:


uniprotID: A0A1B0GVG4
geneSymbol: CCDC194
name: Coiled-coil domain-containing protein 194
length: 234
go: ENSG00000269720;
sequence:


uniprotID: Q8N5R6
geneSymbol: CCDC33
name: Coiled-coil domain-containing protein 33 (Cancer/testis antigen 61) (CT61)
length: 958
go: ENSG00000140481;
snps: rs2277603 rs2277604 rs1564782
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N5R6-1; Sequence=Displayed; Name=2; IsoId=Q8N5R6-2; Sequence=VSP_028757, VSP_028758; Name=4; IsoId=Q8N5R6-4; Sequence=VSP_028755, VSP_028756, VSP_028759; Name=5; IsoId=Q8N5R6-5; Sequence=VSP_028755, VSP_028756, VSP_028757, VSP_028759; Name=6; IsoId=Q8N5R6-6; Sequence=VSP_040258, VSP_040259; 


uniprotID: P08571
geneSymbol: CD14
pdb: 4GLP;
length: 375
go: ENSG00000170458;
snps: rs2228049 rs11556179
reactome:
R-HSA-1236974;R-HSA-140534;R-HSA-166016;R-HSA-166020;R-HSA-166058;R-HSA-166166;R-HSA-168179;R-HSA-168188;R-HSA-2562578;R-HSA-5602498;R-HSA-5603041;R-HSA-5686938;R-HSA-6798695;R-HSA-9014325;R-HSA-936964;R-HSA-937041;R-HSA-937072;R-HSA-975163;

name:
Monocyte differentiation antigen CD14 (Myeloid cell-specific leucine-rich glycoprotein) (CD antigen CD14) [Cleaved into: Monocyte differentiation antigen CD14, urinary form; Monocyte differentiation antigen CD14, membrane-bound form]

sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; cell surface [GO:0009986]; endosome membrane [GO:0010008]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; lipopolysaccharide receptor complex [GO:0046696]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; lipopeptide binding [GO:0071723]; lipopolysaccharide binding [GO:0001530]; lipoteichoic acid binding [GO:0070891]; opsonin receptor activity [GO:0001847]; peptidoglycan receptor activity [GO:0016019]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; cell surface receptor signaling pathway [GO:0007166]; cellular response to diacyl bacterial lipopeptide [GO:0071726]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to lipoteichoic acid [GO:0071223]; cellular response to molecule of bacterial origin [GO:0071219]; cellular response to triacyl bacterial lipopeptide [GO:0071727]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; MyD88-independent toll-like receptor signaling pathway [GO:0002756]; necroptotic process [GO:0070266]; negative regulation of MyD88-independent toll-like receptor signaling pathway [GO:0034128]; neutrophil degranulation [GO:0043312]; phagocytosis [GO:0006909]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of endocytosis [GO:0045807]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-8 secretion [GO:2000484]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of type I interferon production [GO:0032481]; receptor-mediated endocytosis [GO:0006898]; response to electrical stimulus [GO:0051602]; response to ethanol [GO:0045471]; response to heat [GO:0009408]; response to magnesium ion [GO:0032026]; response to tumor necrosis factor [GO:0034612]; toll-like receptor 4 signaling pathway [GO:0034142]; toll-like receptor signaling pathway [GO:0002224]; toll-like receptor TLR1:TLR2 signaling pathway [GO:0038123]; toll-like receptor TLR6:TLR2 signaling pathway [GO:0038124]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1698311, ECO:0000269|PubMed:2462937, ECO:0000269|PubMed:3385210}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:1698311, ECO:0000269|PubMed:2462937, ECO:0000269|PubMed:3385210}. Secreted {ECO:0000269|PubMed:25497142, ECO:0000269|PubMed:2779588}. Membrane raft {ECO:0000269|PubMed:16880211}. Golgi apparatus {ECO:0000269|PubMed:16880211}. Note=Secreted forms may arise by cleavage of the GPI anchor. {ECO:0000269|PubMed:2462937, ECO:0000269|PubMed:2779588, ECO:0000269|PubMed:3385210}.


uniprotID: Q5BLP8
geneSymbol: C4orf48
name: Neuropeptide-like protein C4orf48
sequence: MAPPPACRSPMSPPPPPLLLLLLSLALLGARARAEPAGSAVPAQSRPCVDCHAFEFMQRALQDLRKTACSLDARTETLLLQAERRALCACWPAGH
length: 95
go: ENSG00000243449;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5BLP8-1; Sequence=Displayed; Name=2; IsoId=Q5BLP8-2; Sequence=VSP_040898; Note=No experimental confirmation available.; Name=3; IsoId=Q5BLP8-3; Sequence=VSP_057610; 


uniprotID: P48960
geneSymbol: CD97
reactome: R-HSA-373080;R-HSA-6798695;
pdb: 2BOU;
length: 835
go: ENSG00000123146;
snps: rs2230748
name:
CD97 antigen (Leukocyte antigen CD97) (CD antigen CD97) [Cleaved into: CD97 antigen subunit alpha; CD97 antigen subunit beta]

sequence:

opentargets:
extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; calcium ion binding [GO:0005509]; G protein-coupled receptor activity [GO:0004930]; transmembrane signaling receptor activity [GO:0004888]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=EGF(1,2,3,4,5); IsoId=P48960-1; Sequence=Displayed; Name=2; Synonyms=EGF(1,2,5); IsoId=P48960-2; Sequence=VSP_009411; Name=3; Synonyms=EGF(1,2,3,5); IsoId=P48960-3; Sequence=VSP_009412; 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.; SUBCELLULAR LOCATION: CD97 antigen subunit alpha: Secreted, extracellular space.


uniprotID: Q07108
geneSymbol: CD69
pdb: 1E87;1E8I;1FM5;3CCK;3HUP;
length: 199
go: ENSG00000110848;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
name:
Early activation antigen CD69 (Activation inducer molecule) (AIM) (BL-AC/P26) (C-type lectin domain family 2 member C) (EA1) (Early T-cell activation antigen p60) (GP32/28) (Leukocyte surface antigen Leu-23) (MLR-3) (CD antigen CD69)

sequence:
MSSENCFVAENSSLHPESGQENDATSPHFSTRHEGSFQVPVLCAVMNVVFITILIIALIALSVGQYNCPGQYTFSMPSDSHVSSCSEDWVGYQRKCYFISTVKRSWTSAQNACSEHGATLAVIDSEKDMNFLKRYAGREEHWVGLKKEPGHPWKWSNGKEFNNWFNVTGSDKCVFLKNTEVSSMECEKNLYWICNKPYK

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; protein-containing complex [GO:0032991]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; protein homodimerization activity [GO:0042803]; transmembrane signaling receptor activity [GO:0004888]; cellular response to drug [GO:0035690]


uniprotID: P06729
geneSymbol: CD2
reactome: R-HSA-202733;
pdb: 1CDB;1GYA;1HNF;1L2Z;1QA9;2J6O;2J7I;
length: 351
go: ENSG00000116824;
drug: DB00092;
snps: rs699738 rs35880225
name:
T-cell surface antigen CD2 (Erythrocyte receptor) (LFA-2) (LFA-3 receptor) (Rosette receptor) (T-cell surface antigen T11/Leu-5) (CD antigen CD2)

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; signaling receptor binding [GO:0005102]; apoptotic process [GO:0006915]; cell surface receptor signaling pathway [GO:0007166]; cell-cell adhesion [GO:0098609]; heterotypic cell-cell adhesion [GO:0034113]; leukocyte migration [GO:0050900]; membrane raft polarization [GO:0001766]; natural killer cell activation [GO:0030101]; positive regulation of interferon-gamma secretion [GO:1902715]; positive regulation of interleukin-8 secretion [GO:2000484]; positive regulation of myeloid dendritic cell activation [GO:0030887]; positive regulation of tumor necrosis factor production [GO:0032760]; regulation of T cell differentiation [GO:0045580]; T cell activation [GO:0042110]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:2437578}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: P40259
geneSymbol: CD79B
reactome: R-HSA-5690714;R-HSA-983695;
pdb: 3KG5;
length: 229
go: ENSG00000007312;
snps: rs121912424
name:
B-cell antigen receptor complex-associated protein beta chain (B-cell-specific glycoprotein B29) (Ig-beta) (Immunoglobulin-associated B29 protein) (CD antigen CD79b)

sequence:

opentargets:
B cell receptor complex [GO:0019815]; cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; transmembrane signaling receptor activity [GO:0004888]; adaptive immune response [GO:0002250]; B cell differentiation [GO:0030183]; B cell receptor signaling pathway [GO:0050853]; immune response [GO:0006955]; protein homooligomerization [GO:0051260]; response to bacterium [GO:0009617]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=P40259-1; Sequence=Displayed; Name=Short; IsoId=P40259-2; Sequence=VSP_002477; Name=3; IsoId=P40259-3; Sequence=VSP_047222; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Note=Following antigen binding, the BCR has been shown to translocate from detergent-soluble regions of the cell membrane to lipid rafts although signal transduction through the complex can also occur outside lipid rafts. {ECO:0000250}.


uniprotID: P09564
geneSymbol: CD7
length: 240
go: ENSG00000173762;
snps: rs34579511
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
T-cell antigen CD7 (GP40) (T-cell leukemia antigen) (T-cell surface antigen Leu-9) (TP41) (CD antigen CD7)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; adaptive immune response [GO:0002250]; immune response [GO:0006955]; T cell activation [GO:0042110]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]


uniprotID: Q8IWY9
geneSymbol: CDAN1
name: Codanin-1
length: 1227
go: ENSG00000140326;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; chromatin assembly [GO:0031497]; chromatin organization [GO:0006325]; negative regulation of DNA replication [GO:0008156]; protein localization [GO:0008104]

snps:
rs4265781 rs12917189 rs120074166 rs120074167 rs80338696 rs120074168 rs370895637 rs8023524 rs80338697 rs80338698 rs80338699 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=Q8IWY9-2; Sequence=Displayed; Name=1; IsoId=Q8IWY9-1; Sequence=VSP_027097, VSP_027098; Name=3; IsoId=Q8IWY9-3; Sequence=Not described; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Mainly detected as a cytoplasmic protein.


uniprotID: Q99618
geneSymbol: CDCA3
length: 268
go: ENSG00000111665;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}.
name:
Cell division cycle-associated protein 3 (Gene-rich cluster protein C8) (Trigger of mitotic entry protein 1) (TOME-1)

sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cytosol [GO:0005829]; cell cycle [GO:0007049]; cell division [GO:0051301]; protein ubiquitination [GO:0016567]


uniprotID: Q9BXL8
geneSymbol: CDCA4
name: Cell division cycle-associated protein 4 (Hematopoietic progenitor protein)
length: 241
go: ENSG00000170779;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16984923}.
sequence:


uniprotID: Q9BWT1
geneSymbol: CDCA7
name: Cell division cycle-associated protein 7 (Protein JPO1)
length: 371
go: ENSG00000144354;
snps: rs879253738 rs370384522 rs772929976
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; apoptotic process [GO:0006915]; regulation of cell proliferation [GO:0042127]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=isoform 2 variant; IsoId=Q9BWT1-1; Sequence=Displayed; Name=2; IsoId=Q9BWT1-2; Sequence=VSP_020394; Name=3; IsoId=Q9BWT1-3; Sequence=VSP_020397; Note=No experimental confirmation available.; Name=4; IsoId=Q9BWT1-4; Sequence=VSP_020395, VSP_020396; Note=No experimental confirmation available.; Name=5; IsoId=Q9BWT1-5; Sequence=VSP_054407; Note=No experimental confirmation available.; Name=6; IsoId=Q9BWT1-6; Sequence=VSP_054408; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Predominantly nuclear with some expression also seen in the cytoplasm. Predominantly cytoplasmic when phosphorylated at Thr-163.


uniprotID: P07199
geneSymbol: CENPB
pdb: 1BW6;1HLV;1UFI;
name: Major centromere autoantigen B (Centromere protein B) (CENP-B)
length: 599
go: ENSG00000125817;
sequence:

opentargets:
chromosome [GO:0005694]; chromosome, centromeric region [GO:0000775]; condensed nuclear chromosome, centromeric region [GO:0000780]; nuclear body [GO:0016604]; nuclear pericentric heterochromatin [GO:0031618]; centromeric DNA binding [GO:0019237]; chromatin binding [GO:0003682]; satellite DNA binding [GO:0003696]; sequence-specific DNA binding [GO:0043565]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00320, ECO:0000255|PROSITE-ProRule:PRU00583, ECO:0000269|PubMed:18072184}. Chromosome, centromere {ECO:0000269|PubMed:18072184}.


uniprotID: P61604
geneSymbol: HSPE1
pdb: 4PJ1;
length: 102
go: ENSG00000115541;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
10 kDa heat shock protein, mitochondrial (Hsp10) (10 kDa chaperonin) (Chaperonin 10) (CPN10) (Early-pregnancy factor) (EPF)

sequence:
MAGQAFRKFLPLFDRVLVERSAAETVTKGGIMLPEKSQGKVLQATVVAVGSGSKGKGGEIQPVSVKVGDKVLLPEYGGTKVVLDDKDYFLFRDGDILGKYVD

opentargets:
extracellular exosome [GO:0070062]; membrane [GO:0016020]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; chaperone binding [GO:0051087]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; unfolded protein binding [GO:0051082]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; chaperone cofactor-dependent protein refolding [GO:0051085]; osteoblast differentiation [GO:0001649]; protein folding [GO:0006457]; response to unfolded protein [GO:0006986]


uniprotID: Q9Y376
geneSymbol: CAB39
reactome: R-HSA-380972;R-HSA-6798695;
pdb: 1UPK;1UPL;2WTK;3GNI;4FZA;4FZD;4FZF;4NZW;4O27;
name: Calcium-binding protein 39 (MO25alpha) (Protein Mo25)
length: 341
go: ENSG00000135932;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; intracellular [GO:0005622]; secretory granule lumen [GO:0034774]; serine/threonine protein kinase complex [GO:1902554]; kinase binding [GO:0019900]; protein kinase activator activity [GO:0030295]; protein serine/threonine kinase activator activity [GO:0043539]; protein serine/threonine kinase activity [GO:0004674]; cell cycle arrest [GO:0007050]; cellular hypotonic response [GO:0071476]; intracellular signal transduction [GO:0035556]; negative regulation of potassium ion transmembrane transport [GO:1901380]; negative regulation of potassium ion transmembrane transporter activity [GO:1901017]; neutrophil degranulation [GO:0043312]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; protein heterooligomerization [GO:0051291]; signal transduction by protein phosphorylation [GO:0023014]


uniprotID: Q9NX04
geneSymbol: C1orf109
name: Uncharacterized protein C1orf109
length: 203
go: ENSG00000116922;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NX04-1; Sequence=Displayed; Name=2; IsoId=Q9NX04-2; Sequence=VSP_022733, VSP_022734; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22548824}. Cytoplasm {ECO:0000269|PubMed:22548824}.


uniprotID: Q16790
geneSymbol: CA9
reactome: R-HSA-1234158;R-HSA-1475029;
pdb: 2HKF;3IAI;5DVX;5FL4;5FL5;5FL6;6FE0;6FE1;6FE2;6G98;6G9U;
length: 459
go: ENSG00000107159;
drug: DB00562;DB08846;DB00999;DB00774;DB09460;DB05304;DB00909;
snps: rs2071676 rs3829078
name:
Carbonic anhydrase 9 (EC 4.2.1.1) (Carbonate dehydratase IX) (Carbonic anhydrase IX) (CA-IX) (CAIX) (Membrane antigen MN) (P54/58N) (Renal cell carcinoma-associated antigen G250) (RCC-associated antigen G250) (pMW1)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of membrane [GO:0016021]; microvillus membrane [GO:0031528]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; bicarbonate transport [GO:0015701]; morphogenesis of an epithelium [GO:0002009]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; response to drug [GO:0042493]; response to testosterone [GO:0033574]; secretion [GO:0046903]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8486430}. Nucleus, nucleolus {ECO:0000269|PubMed:8486430}. Cell membrane {ECO:0000269|PubMed:8486430}; Single-pass type I membrane protein {ECO:0000269|PubMed:8486430}. Cell projection, microvillus membrane {ECO:0000269|PubMed:8486430}; Single-pass type I membrane protein {ECO:0000269|PubMed:8486430}. Note=Found on the surface microvilli and in the nucleus, particularly in nucleolus.


uniprotID: O75155
geneSymbol: CAND2
length: 1236
go: ENSG00000144712;
snps: rs2305398 rs2305397 rs3732675 rs9838943 rs17037287 rs3732678 rs3817121 rs12629133
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Cullin-associated NEDD8-dissociated protein 2 (Cullin-associated and neddylation-dissociated protein 2) (Epididymis tissue protein Li 169) (TBP-interacting protein of 120 kDa B) (TBP-interacting protein 120B) (p120 CAND2)

sequence:

opentargets:
intracellular [GO:0005622]; nucleus [GO:0005634]; TBP-class protein binding [GO:0017025]; positive regulation of transcription, DNA-templated [GO:0045893]; protein ubiquitination [GO:0016567]; SCF complex assembly [GO:0010265]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75155-1; Sequence=Displayed; Name=2; IsoId=O75155-2; Sequence=VSP_037240, VSP_037241, VSP_037242; 


uniprotID: Q5R3K3
geneSymbol: CALHM6
name: Calcium homeostasis modulator protein 6 (Protein FAM26F)
length: 315
go: ENSG00000188820;
opentargets: integral component of plasma membrane [GO:0005887]; ion transport [GO:0006811]
snps: rs1057192 rs10784 rs11544160
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5R3K3-1; Sequence=Displayed; Name=2; IsoId=Q5R3K3-2; Sequence=VSP_055698, VSP_055699; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: P40121
geneSymbol: CAPG
pdb: 1J72;1JHW;
name: Macrophage-capping protein (Actin regulatory protein CAP-G)
length: 348
go: ENSG00000042493;
snps: rs2229668 rs11539103 rs6886
sequence:

opentargets:
centriole [GO:0005814]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; F-actin capping protein complex [GO:0008290]; Flemming body [GO:0090543]; melanosome [GO:0042470]; mitotic spindle [GO:0072686]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; protein domain specific binding [GO:0019904]; protein-containing complex binding [GO:0044877]; barbed-end actin filament capping [GO:0051016]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P40121-1; Sequence=Displayed; Name=2; IsoId=P40121-2; Sequence=VSP_045538; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:18266911}. Cytoplasm {ECO:0000269|PubMed:17081065}. Secreted {ECO:0000250|UniProtKB:P24452}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). Redistributes throughout the cytoplasm during mitosis and is excluded from regions containing chromosomes (By similarity). {ECO:0000250|UniProtKB:P24452, ECO:0000269|PubMed:17081065}.


uniprotID: P15954
geneSymbol: COX7C
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase subunit 7C, mitochondrial (Cytochrome c oxidase polypeptide VIIc)
sequence: MLGQSIRRFTTSVVRRSHYEEGPGKNLPFSVENKWSLLAKMCLYFGSAFATPFLVVRHQLLKT
length: 63
go: ENSG00000127184;
drug: DB02659;DB04464;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}.
opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex IV [GO:0005751]; mitochondrion [GO:0005739]; cytochrome-c oxidase activity [GO:0004129]; generation of precursor metabolites and energy [GO:0006091]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]


uniprotID: Q6NZI2
geneSymbol: CAVIN1
reactome: R-HSA-73863;
name: Caveolae-associated protein 1 (Cavin-1) (Polymerase I and transcript release factor)
length: 390
go: ENSG00000177469;
snps: rs35308568
sequence:

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; intracellular membrane-bounded organelle [GO:0043231]; membrane raft [GO:0045121]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; rRNA primary transcript binding [GO:0042134]; positive regulation of cell motility [GO:2000147]; rRNA transcription [GO:0009303]; termination of RNA polymerase I transcription [GO:0006363]; transcription initiation from RNA polymerase I promoter [GO:0006361]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000305}; IsoId=Q6NZI2-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q6NZI2-2; Sequence=VSP_051625; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000305}; IsoId=Q6NZI2-3; Sequence=VSP_051624; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Membrane, caveola {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:18056712, ECO:0000269|PubMed:19525939}. Cell membrane {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959, ECO:0000269|PubMed:18056712}. Microsome {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P85125}. Cytoplasm, cytosol {ECO:0000269|PubMed:15242332}. Mitochondrion {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959}. Nucleus {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959}. Note=Translocates to the cytoplasm from the caveolae upon insulin stimulation (PubMed:17026959). Colocalizes with CAV1 in lipid rafts in adipocytes. Localizes in the caveolae in a caveolin-dependent manner (By similarity). {ECO:0000250|UniProtKB:O54724, ECO:0000269|PubMed:17026959}.


uniprotID: A6NC98
geneSymbol: CCDC88B
length: 1476
go: ENSG00000168071;
snps: rs647152 rs685870 rs1318165
name:
Coiled-coil domain-containing protein 88B (Brain leucine zipper domain-containing protein) (Gipie) (Hook-related protein 3) (HkRP3)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; dynein light intermediate chain binding [GO:0051959]; microtubule binding [GO:0008017]; cytoplasmic microtubule organization [GO:0031122]; cytoskeleton-dependent intracellular transport [GO:0030705]; defense response to protozoan [GO:0042832]; positive regulation of cytokine production [GO:0001819]; positive regulation of T cell activation [GO:0050870]; positive regulation of T cell proliferation [GO:0042102]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=A6NC98-1; Sequence=Displayed; Name=2; IsoId=A6NC98-2; Sequence=VSP_030962, VSP_030964; Name=3; IsoId=A6NC98-3; Sequence=VSP_030957, VSP_030958, VSP_030960, VSP_030961; Note=No experimental confirmation available.; Name=4; IsoId=A6NC98-4; Sequence=VSP_030963; Note=No experimental confirmation available.; Name=5; IsoId=A6NC98-5; Sequence=VSP_030956, VSP_030959, VSP_030965; Note=No experimental confirmation available.; Name=6; IsoId=A6NC98-6; Sequence=VSP_035405, VSP_035406; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q4QRL3}; Peripheral membrane protein {ECO:0000305}. Cytoplasm, cytoskeleton, microtubule organizing center {ECO:0000269|PubMed:25762780}. Endoplasmic reticulum {ECO:0000269|PubMed:21289099}. Golgi apparatus {ECO:0000269|PubMed:21289099}. Cytoplasm {ECO:0000269|PubMed:21289099}.


uniprotID: Q8IX12
geneSymbol: CCAR1
reactome: R-HSA-72163;
length: 1150
go: ENSG00000060339;
snps: rs1782338 rs1060145 rs11542602
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:12816952}.
name:
Cell division cycle and apoptosis regulator protein 1 (Cell cycle and apoptosis regulatory protein 1) (CARP-1) (Death inducer with SAP domain)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; nuclear receptor transcription coactivator activity [GO:0030374]; RNA binding [GO:0003723]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IX12-1; Sequence=Displayed; Name=2; IsoId=Q8IX12-2; Sequence=VSP_037736; Note=No experimental confirmation available.; 


uniprotID: Q7Z7K0
geneSymbol: CMC1
name: COX assembly mitochondrial protein homolog (Cmc1p)
length: 106
go: ENSG00000187118;
opentargets: mitochondrion [GO:0005739]; metal ion binding [GO:0046872]
sequence:
MALDPADQHLRHVEKDVLIPKIMREKAKERCSEQVQDFTKCCKNSGVLMVVKCRKENSALKECLTAYYNDPAFYEECKMEYLKEREEFRKTGIPTKKRLQKLPTSM

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18443040, ECO:0000269|PubMed:23676665}. Note=Colocalizes with MT-CO1.


uniprotID: Q49A88
geneSymbol: CCDC14
name: Coiled-coil domain-containing protein 14
length: 953
go: ENSG00000175455;
snps: rs17310144
sequence:

opentargets:
centriolar satellite [GO:0034451]; centrosome [GO:0005813]; protein localization to centrosome [GO:0071539]; substantia nigra development [GO:0021762]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q49A88-1; Sequence=Displayed; Name=2; IsoId=Q49A88-2; Sequence=VSP_033455; Name=3; IsoId=Q49A88-3; Sequence=VSP_033456, VSP_033457; Note=No experimental confirmation available.; Name=4; IsoId=Q49A88-4; Sequence=VSP_033455, VSP_033459, VSP_033460; Note=No experimental confirmation available.; Name=5; IsoId=Q49A88-5; Sequence=VSP_033458; Name=6; IsoId=Q49A88-6; Sequence=VSP_039080; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:24613305, ECO:0000269|PubMed:26297806}. Note=Colocalizes with PCM1 at centriolar satellites throughout the cell cycle. {ECO:0000269|PubMed:26297806}.


uniprotID: Q96HJ3
geneSymbol: CCDC34
name: Coiled-coil domain-containing protein 34 (Renal carcinoma antigen NY-REN-41)
length: 373
go: ENSG00000109881;
snps: rs11549824 rs12364852 rs17244028 rs16925453
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96HJ3-1; Sequence=Displayed; Name=2; IsoId=Q96HJ3-2; Sequence=VSP_034096, VSP_034097; 


uniprotID: P26842
geneSymbol: CD27
reactome: R-HSA-5669034;
pdb: 5TL5;5TLJ;5TLK;
length: 260
go: ENSG00000139193;
snps: rs397514667 rs25680 rs2532502
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
CD27 antigen (CD27L receptor) (T-cell activation antigen CD27) (T14) (Tumor necrosis factor receptor superfamily member 7) (CD antigen CD27)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]; extrinsic apoptotic signaling pathway [GO:0097191]; immunoglobulin mediated immune response [GO:0016064]; negative regulation of apoptotic process [GO:0043066]; negative regulation of T cell apoptotic process [GO:0070233]; positive regulation of B cell differentiation [GO:0045579]; positive regulation of JNK cascade [GO:0046330]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of T cell differentiation [GO:0045582]; response to ethanol [GO:0045471]; tumor necrosis factor-mediated signaling pathway [GO:0033209]


uniprotID: Q504U0
geneSymbol: C4orf46
name: Renal cancer differentiation gene 1 protein
length: 113
go: ENSG00000205208;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25059753}.
sequence:
MADPEELQVSSPPPPPPSSPSSSDASAASSPGGPVSLGWPVPSRSSGPTVDQLEEVELQIGDAAFSLTKLLEATSAVSAQVEELAFKCTENARFLKTWRDLLKEGYDSLKPDD


uniprotID: P06127
geneSymbol: CD5
pdb: 2JA4;2JOP;2JP0;2OTT;
name: T-cell surface glycoprotein CD5 (Lymphocyte antigen T1/Leu-1) (CD antigen CD5)
length: 495
go: ENSG00000110448;
snps: rs2241002 rs637186 rs2229177
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; scavenger receptor activity [GO:0005044]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; apoptotic signaling pathway [GO:0097190]; cell proliferation [GO:0008283]; cell recognition [GO:0008037]; T cell costimulation [GO:0031295]


uniprotID: Q9UQ88
geneSymbol: CDK11A
reactome: R-HSA-380270;
length: 783
go: ENSG00000008128;
snps: rs1059832 rs7531938 rs1059831 rs1059828 rs1059811
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
Cyclin-dependent kinase 11A (EC 2.7.11.22) (Cell division cycle 2-like protein kinase 2) (Cell division protein kinase 11A) (Galactosyltransferase-associated protein kinase p58/GTA) (PITSLRE serine/threonine-protein kinase CDC2L2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; apoptotic process [GO:0006915]; mitotic cell cycle [GO:0000278]; protein phosphorylation [GO:0006468]; regulation of cell growth [GO:0001558]; regulation of mRNA processing [GO:0050684]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=8;  Comment=Additional isoforms seem to exist.; Name=SV6; Synonyms=p110; IsoId=Q9UQ88-1; Sequence=Displayed; Name=SV1; Synonyms=Pbeta21, Beta 2-1; IsoId=Q9UQ88-2; Sequence=VSP_008286, VSP_008288; Name=SV2; Synonyms=Pbeta22; IsoId=Q9UQ88-3; Sequence=VSP_008287, VSP_008288; Name=SV3; IsoId=Q9UQ88-4; Sequence=VSP_008288; Name=SV7; Synonyms=SV8; IsoId=Q9UQ88-5; Sequence=VSP_008283, VSP_008289; Name=SV12; IsoId=Q9UQ88-8; Sequence=VSP_008284, VSP_008292; Name=SV13; IsoId=Q9UQ88-9; Sequence=VSP_008281, VSP_008287, VSP_008288, VSP_008290, VSP_008291; Name=4; Synonyms=Beta 1, p58; IsoId=Q9UQ88-10; Sequence=VSP_018836; Note=Produced by alternative initiation at Met-345 of isoform SV6.; 


uniprotID: Q86Y33
geneSymbol: CDC20B
name: Cell division cycle protein 20 homolog B
length: 519
go: ENSG00000164287;
snps: rs173042 rs423074 rs34132993 rs1021580 rs3104230 rs444527
sequence:

opentargets:
anaphase-promoting complex binding [GO:0010997]; ubiquitin-protein transferase activator activity [GO:0097027]; positive regulation of ubiquitin protein ligase activity [GO:1904668]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q86Y33-1; Sequence=Displayed; Name=2; IsoId=Q86Y33-2; Sequence=VSP_034095; Name=3; IsoId=Q86Y33-3; Sequence=VSP_034094; Note=No experimental confirmation available.; Name=4; IsoId=Q86Y33-4; Sequence=VSP_034092, VSP_034093; Note=No experimental confirmation available.; Name=5; IsoId=Q86Y33-5; Sequence=VSP_034089, VSP_034090, VSP_034091; Note=No experimental confirmation available.; 


uniprotID: Q6P1J9
geneSymbol: CDC73
reactome: R-HSA-112382;R-HSA-201722;R-HSA-5632684;R-HSA-674695;R-HSA-75955;R-HSA-8866654;
pdb: 5YDE;5YDF;
name: Parafibromin (Cell division cycle protein 73 homolog) (Hyperparathyroidism 2 protein)
length: 531
go: ENSG00000134371;
snps: rs1060500015 rs121434264 rs752383339 rs971586985 rs35590728
sequence:

opentargets:
Cdc73/Paf1 complex [GO:0016593]; cytosol [GO:0005829]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II complex binding [GO:0000993]; beta-catenin-TCF complex assembly [GO:1904837]; cell cycle [GO:0007049]; cellular response to lipopolysaccharide [GO:0071222]; endodermal cell fate commitment [GO:0001711]; histone H2B ubiquitination [GO:0033523]; histone monoubiquitination [GO:0010390]; mRNA polyadenylation [GO:0006378]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell cycle G1/S phase transition [GO:1902808]; positive regulation of mRNA 3'-end processing [GO:0031442]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; positive regulation of Wnt signaling pathway [GO:0030177]; protein destabilization [GO:0031648]; protein ubiquitination [GO:0016567]; recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex [GO:0034402]; stem cell population maintenance [GO:0019827]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15580289, ECO:0000269|PubMed:15632063, ECO:0000269|PubMed:15923622}.


uniprotID: Q12834
geneSymbol: CDC20
pdb: 4GGA;4GGC;4GGD;4N14;5G04;5KHR;5KHU;5LCW;6F0X;
name: Cell division cycle protein 20 homolog (p55CDC)
length: 499
go: ENSG00000117399;
snps: rs45443196 rs45461499
reactome:
R-HSA-141405;R-HSA-141430;R-HSA-141444;R-HSA-174048;R-HSA-174113;R-HSA-174154;R-HSA-174178;R-HSA-174184;R-HSA-176407;R-HSA-176408;R-HSA-176409;R-HSA-176417;R-HSA-179409;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-5689880;R-HSA-68877;R-HSA-983168;

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; spindle [GO:0005819]; spindle pole [GO:0000922]; anaphase-promoting complex binding [GO:0010997]; enzyme binding [GO:0019899]; histone deacetylase binding [GO:0042826]; protein C-terminus binding [GO:0008022]; ubiquitin-protein transferase activator activity [GO:0097027]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell division [GO:0051301]; mitotic sister chromatid cohesion [GO:0007064]; mitotic spindle assembly [GO:0090307]; mitotic spindle assembly checkpoint [GO:0007094]; positive regulation of cell proliferation [GO:0008284]; positive regulation of synapse maturation [GO:0090129]; positive regulation of synaptic plasticity [GO:0031915]; positive regulation of ubiquitin protein ligase activity [GO:1904668]; protein deubiquitination [GO:0016579]; protein ubiquitination [GO:0016567]; regulation of dendrite development [GO:0050773]; regulation of meiotic nuclear division [GO:0040020]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20034488}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:20034488}.


uniprotID: P20138
geneSymbol: CD33
reactome: R-HSA-198933;R-HSA-6798695;
pdb: 5IHB;5J06;5J0B;
length: 364
go: ENSG00000105383;
drug: DB00056;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Myeloid cell surface antigen CD33 (Sialic acid-binding Ig-like lectin 3) (Siglec-3) (gp67) (CD antigen CD33)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; carbohydrate binding [GO:0030246]; signaling receptor activity [GO:0038023]; cell adhesion [GO:0007155]; cell-cell signaling [GO:0007267]; negative regulation of cell proliferation [GO:0008285]; neutrophil degranulation [GO:0043312]; regulation of immune response [GO:0050776]; signal transduction [GO:0007165]

snps:
rs12459419 rs35814802 rs2455069 rs34919259 rs4082929 rs988337 rs11882250 rs58981829 rs2271652 rs35112940 rs35632246 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P20138-1; Sequence=Displayed; Name=2; IsoId=P20138-2; Sequence=VSP_045364; Note=No experimental confirmation available.; Name=3; Synonyms=CD33-m; IsoId=P20138-3; Sequence=VSP_046172; Note=Mostly detected on NKL and myeloid cell lines but poorly expressed on B-cell lines and T-lymphocytes.; 


uniprotID: P42081
geneSymbol: CD86
pdb: 1I85;1NCN;
length: 329
go: ENSG00000114013;
drug: DB01281;DB00098;DB06681;
snps: rs9282642 rs2681417 rs1129055 rs9282648
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
reactome:
R-HSA-1257604;R-HSA-2219530;R-HSA-389356;R-HSA-389357;R-HSA-389359;R-HSA-389513;R-HSA-6783783;R-HSA-6811558;

name:
T-lymphocyte activation antigen CD86 (Activation B7-2 antigen) (B70) (BU63) (CTLA-4 counter-receptor B7.2) (FUN-1) (CD antigen CD86)

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; coreceptor activity [GO:0015026]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; signaling receptor activity [GO:0038023]; virus receptor activity [GO:0001618]; adaptive immune response [GO:0002250]; cell surface receptor signaling pathway [GO:0007166]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of cell proliferation [GO:0008284]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of interleukin-4 biosynthetic process [GO:0045404]; positive regulation of lymphotoxin A biosynthetic process [GO:0043017]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of T-helper 2 cell differentiation [GO:0045630]; positive regulation of transcription, DNA-templated [GO:0045893]; signal transduction [GO:0007165]; T cell costimulation [GO:0031295]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=P42081-1; Sequence=Displayed; Name=2; IsoId=P42081-3; Sequence=VSP_023124; Name=3; Synonyms=CD86 deltaEC; IsoId=P42081-2; Sequence=VSP_023124, VSP_009125; Name=4; Synonyms=CD86 deltaTM; IsoId=P42081-4; Sequence=VSP_023124, VSP_040324; Name=5; IsoId=P42081-5; Sequence=VSP_047221; Note=No experimental confirmation available.; Name=6; IsoId=P42081-6; Sequence=VSP_047220; Note=No experimental confirmation available.; 


uniprotID: Q96FF9
geneSymbol: CDCA5
reactome: R-HSA-2467813;R-HSA-2468052;R-HSA-2500257;
name: Sororin (Cell division cycle-associated protein 5) (p35)
length: 252
go: ENSG00000146670;
snps: rs34020666
sequence:

opentargets:
chromosome [GO:0005694]; chromosome, centromeric region [GO:0000775]; cohesin complex [GO:0008278]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; protein-containing complex binding [GO:0044877]; cell division [GO:0051301]; double-strand break repair [GO:0006302]; mitotic cell cycle [GO:0000278]; mitotic chromosome condensation [GO:0007076]; mitotic metaphase plate congression [GO:0007080]; mitotic sister chromatid cohesion [GO:0007064]; positive regulation of exit from mitosis [GO:0031536]; regulation of cohesin loading [GO:0071922]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15837422}. Chromosome {ECO:0000269|PubMed:15837422}. Cytoplasm {ECO:0000269|PubMed:15837422}. Note=Associates with nuclear chromatin from S phase until metaphase and is released in the cytoplasm upon nuclear envelope breakdown.


uniprotID: Q9H5V8
geneSymbol: CDCP1
length: 836
go: ENSG00000163814;
snps: rs3749191 rs35428731 rs9874077
name:
CUB domain-containing protein 1 (Membrane glycoprotein gp140) (Subtractive immunization M plus HEp3-associated 135 kDa protein) (SIMA135) (Transmembrane and associated with src kinases) (CD antigen CD318)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H5V8-1; Sequence=Displayed; Name=2; IsoId=Q9H5V8-2; Sequence=VSP_017432; Note=No experimental confirmation available.; Name=3; IsoId=Q9H5V8-3; Sequence=VSP_017433, VSP_017434; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Note=Shedding may also lead to a soluble peptide.; SUBCELLULAR LOCATION: Isoform 3: Secreted.


uniprotID: A8MQB3
geneSymbol: C17orf51
name: Uncharacterized protein C17orf51
length: 221
go: ENSG00000212719;
sequence:


uniprotID: Q8N3J3
geneSymbol: C17orf53
name: Uncharacterized protein C17orf53
length: 647
go: ENSG00000125319;
snps: rs227584
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N3J3-1; Sequence=Displayed; Name=2; IsoId=Q8N3J3-2; Sequence=VSP_025651, VSP_025652; Note=No experimental confirmation available.; Name=3; IsoId=Q8N3J3-3; Sequence=VSP_025653, VSP_025654, VSP_025655; Note=No experimental confirmation available.; Name=4; IsoId=Q8N3J3-4; Sequence=VSP_047077; 


uniprotID: Q8N7U9
geneSymbol: LINC00469
name: Putative uncharacterized protein encoded by LINC00469
length: 141
sequence:
MTSSAPTLPDVTIRNVSRHIQMSLMGKGEPPWLCRLQLEPLLQAMEEQQLGNLEARWEVEKHGNEVSGSTSREVWEDADFICPVLKQCTNPKLNENKNIHQAKECEKSPFLSLSPHQQWKPGLPRRNDALPTSLCLCCSEN

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N7U9-1; Sequence=Displayed; Name=2; IsoId=Q8N7U9-2; Sequence=VSP_022495; Note=No experimental confirmation available.; 


uniprotID: Q8N8I6
geneSymbol: LINC00482
name: Putative uncharacterized protein encoded by LINC00482
length: 264
snps: rs2056439 rs2048058
sequence:


uniprotID: P49336
geneSymbol: CDK8
reactome: R-HSA-1989781;R-HSA-2122947;R-HSA-212436;R-HSA-2173796;R-HSA-2644606;R-HSA-2894862;R-HSA-381340;
length: 464
go: ENSG00000132964;
drug: DB03496;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
pdb:
3RGF;4CRL;4F6S;4F6U;4F6W;4F70;4F7J;4F7L;4F7N;4F7S;4G6L;5BNJ;5CEI;5FGK;5HBE;5HBH;5HBJ;5HNB;5HVY;5I5Z;5ICP;5IDN;5IDP;5XQX;5XS2;

name:
Cyclin-dependent kinase 8 (EC 2.7.11.22) (EC 2.7.11.23) (Cell division protein kinase 8) (Mediator complex subunit CDK8) (Mediator of RNA polymerase II transcription subunit CDK8) (Protein kinase K35)

sequence:

opentargets:
mediator complex [GO:0016592]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase II CTD heptapeptide repeat kinase activity [GO:0008353]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein phosphorylation [GO:0006468]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49336-1; Sequence=Displayed; Name=2; IsoId=P49336-2; Sequence=VSP_029970; 


uniprotID: P50750
geneSymbol: CDK9
length: 372
go: ENSG00000136807;
drug: DB03496;
snps: rs55640715
reactome:
R-HSA-112382;R-HSA-167152;R-HSA-167200;R-HSA-167238;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-176034;R-HSA-2173796;R-HSA-674695;R-HSA-6796648;R-HSA-6807505;R-HSA-75955;R-HSA-9018519;

pdb:
1PF6;3BLH;3BLQ;3BLR;3LQ5;3MI9;3MIA;3MY1;3TN8;3TNH;3TNI;4BCF;4BCG;4BCH;4BCI;4BCJ;4EC8;4EC9;4IMY;4OGR;4OR5;5L1Z;6GZH;

name:
Cyclin-dependent kinase 9 (EC 2.7.11.22) (EC 2.7.11.23) (C-2K) (Cell division cycle 2-like protein kinase 4) (Cell division protein kinase 9) (Serine/threonine-protein kinase PITALRE) (Tat-associated kinase complex catalytic subunit)

sequence:

opentargets:
chromosome [GO:0005694]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cyclin/CDK positive transcription elongation factor complex [GO:0008024]; cytoplasmic ribonucleoprotein granule [GO:0036464]; membrane [GO:0016020]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; transcription elongation factor complex [GO:0008023]; 7SK snRNA binding [GO:0097322]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; cyclin binding [GO:0030332]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; DNA binding [GO:0003677]; kinase activity [GO:0016301]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase II CTD heptapeptide repeat kinase activity [GO:0008353]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator binding [GO:0001223]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; cell proliferation [GO:0008283]; cellular response to cytokine stimulus [GO:0071345]; DNA repair [GO:0006281]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of mRNA polyadenylation [GO:1900364]; phosphorylation of RNA polymerase II C-terminal domain [GO:0070816]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of histone H2B ubiquitination [GO:2001168]; positive regulation of histone phosphorylation [GO:0033129]; positive regulation of mRNA 3'-UTR binding [GO:1903839]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; positive regulation of viral transcription [GO:0050434]; protein phosphorylation [GO:0006468]; regulation of DNA repair [GO:0006282]; regulation of histone modification [GO:0031056]; regulation of muscle cell differentiation [GO:0051147]; replication fork processing [GO:0031297]; response to drug [GO:0042493]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50750-1; Sequence=Displayed; Name=2; IsoId=P50750-2; Sequence=VSP_016288; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Nucleus, PML body. Note=Accumulates on chromatin in response to replication stress. Complexed with CCNT1 in nuclear speckles, but uncomplexed form in the cytoplasm. The translocation from nucleus to cytoplasm is XPO1/CRM1-dependent. Associates with PML body when acetylated.


uniprotID: Q5VV42
geneSymbol: CDKAL1
reactome: R-HSA-6782315;
length: 579
go: ENSG00000145996;
snps: rs9460608
name:
Threonylcarbamoyladenosine tRNA methylthiotransferase (EC 2.8.4.5) (CDK5 regulatory subunit-associated protein 1-like 1) (tRNA-t(6)A37 methylthiotransferase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; rough endoplasmic reticulum [GO:0005791]; 4 iron, 4 sulfur cluster binding [GO:0051539]; metal ion binding [GO:0046872]; N6-threonylcarbomyladenosine methylthiotransferase activity [GO:0035598]; tRNA (N(6)-L-threonylcarbamoyladenosine(37)-C(2))-methylthiotransferase [GO:0061712]; maintenance of translational fidelity [GO:1990145]; tRNA methylthiolation [GO:0035600]; tRNA modification [GO:0006400]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VV42-1; Sequence=Displayed; Name=2; IsoId=Q5VV42-2; Sequence=VSP_027450, VSP_027453; Name=3; IsoId=Q5VV42-3; Sequence=VSP_027451, VSP_027452; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23048041}; Single-pass membrane protein {ECO:0000269|PubMed:23048041}. Note=Is a tail-anchored protein that exploits the TCR40 pathway for insertion into the endoplasmic reticulum.


uniprotID: Q02224
geneSymbol: CENPE
pdb: 1T5C;5JVP;
length: 2701
go: ENSG00000138778;
drug: DB06097;
snps: rs144716013 rs141488085 rs2615542 rs35100664 rs1381657 rs2306106 rs2243682
reactome:
R-HSA-141444;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-6811434;R-HSA-68877;R-HSA-983189;

name:
Centromere-associated protein E (Centromere protein E) (CENP-E) (Kinesin-7) (Kinesin-related protein CENPE)

sequence:

opentargets:
chromosome [GO:0005694]; chromosome, centromeric region [GO:0000775]; condensed chromosome kinetochore [GO:0000777]; condensed chromosome, centromeric region [GO:0000779]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; kinetochore [GO:0000776]; kinetochore microtubule [GO:0005828]; membrane [GO:0016020]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; mitotic spindle midzone [GO:1990023]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle midzone [GO:0051233]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; kinetochore binding [GO:0043515]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; attachment of mitotic spindle microtubules to kinetochore [GO:0051315]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; kinetochore assembly [GO:0051382]; lateral attachment of mitotic spindle microtubules to kinetochore [GO:0099607]; metaphase plate congression [GO:0051310]; microtubule plus-end directed mitotic chromosome migration [GO:0099606]; microtubule-based movement [GO:0007018]; mitotic cell cycle [GO:0000278]; mitotic chromosome movement towards spindle pole [GO:0007079]; mitotic metaphase plate congression [GO:0007080]; mitotic spindle organization [GO:0007052]; multicellular organism development [GO:0007275]; positive regulation of protein kinase activity [GO:0045860]; regulation of mitotic metaphase/anaphase transition [GO:0030071]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q02224-1; Sequence=Displayed; Name=2; IsoId=Q02224-2; Sequence=VSP_028822; Name=3; IsoId=Q02224-3; Sequence=VSP_028820, VSP_028821; 

location:
SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore {ECO:0000269|PubMed:17535814, ECO:0000269|PubMed:18374647, ECO:0000269|PubMed:18460473, ECO:0000269|PubMed:25395579, ECO:0000269|PubMed:25918224, ECO:0000269|PubMed:9763420}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:9763420}. Chromosome, centromere {ECO:0000269|PubMed:26321640}. Note=Associates with kinetochores during congression (as early as prometaphase), relocates to the spindle midzone at anaphase, and is quantitatively discarded at the end of the cell division (By similarity). Recruited to the kinetochore in a SEPT7, CENPQ and TRAPPC12-dependent manner (PubMed:18460473, PubMed:25918224, PubMed:25395579). Recruited to the pericentromeric/centromeric regions of the chromosome in a CTCF-dependent manner (PubMed:26321640). {ECO:0000250|UniProtKB:Q6RT24, ECO:0000269|PubMed:18460473, ECO:0000269|PubMed:25395579, ECO:0000269|PubMed:25918224, ECO:0000269|PubMed:26321640}.


uniprotID: Q6ZUL3
geneSymbol: C8orf86
name: Uncharacterized protein C8orf86
length: 223
go: ENSG00000196166;
snps: rs1378332
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZUL3-1; Sequence=Displayed; Name=2; IsoId=Q6ZUL3-2; Sequence=VSP_035171, VSP_035172; Note=No experimental confirmation available.; 


uniprotID: E5RJ46
geneSymbol: C8orf87
name: Uncharacterized protein C8orf87
length: 101
sequence:
MRTPKRTRSPKTKVSLRGETLTLQLTTVSLDTRHMVKRCDERHGRPLPHSQESQHGSATSKKAVRGTADTAPLERISAARGWALPMEATVSVFRAHQWQWN


uniprotID: P0DMB2
geneSymbol: C8orf88
name: Uncharacterized protein C8orf88
length: 117
go: ENSG00000253250;
sequence:
METKKLIGKPLQPARPVRHLTSPPGAVFPFNFQNEYPCNTQCIQSGVSRCKTNGMQAFSQGLNEQQQQQSPVKKERIKYSRDFLLKLSSVSICRKKPDFLPDHPIVLQKPENNQSFK

opentargets:
cytoplasm [GO:0005737]; eukaryotic initiation factor 4E binding [GO:0008190]; negative regulation of translational initiation [GO:0045947]


uniprotID: P0DMQ9
geneSymbol: C8orf89
name: Putative uncharacterized protein C8orf89
length: 161
sequence:
MSVLSPEIKCETSKFTRSSFGSCLIFESSWKKAVLETQKIKKEYTTAFGLEELKECIKMPYLPGLQSCQKSVSSTPLEVPKRLPRADAEVSAVRLKKTKETCSVAPLWEKSKGSGFSDPLTGAPSQYLERLSKIAILEYDTIRQETTTKSKKSKKRDLRDR


uniprotID: Q8N0S6
geneSymbol: CENPL
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
name: Centromere protein L (CENP-L) (Interphase centromere complex protein 33)
length: 344
go: ENSG00000120334;
snps: rs12086855
sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; CENP-A containing nucleosome assembly [GO:0034080]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N0S6-1; Sequence=Displayed; Name=2; IsoId=Q8N0S6-2; Sequence=VSP_019939; Note=No experimental confirmation available.; Name=3; IsoId=Q8N0S6-3; Sequence=VSP_019940, VSP_019941; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16716197}. Chromosome, centromere {ECO:0000269|PubMed:16716197}. Note=Localizes exclusively in the centromeres. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex.


uniprotID: Q9H7E9
geneSymbol: C8orf33
name: UPF0488 protein C8orf33
length: 229
go: ENSG00000182307;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H7E9-1; Sequence=Displayed; Name=2; IsoId=Q9H7E9-2; Sequence=VSP_028169; Note=No experimental confirmation available.; 


uniprotID: Q8NAV2
geneSymbol: C8orf58
name: Uncharacterized protein C8orf58
length: 365
go: ENSG00000241852;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NAV2-1; Sequence=Displayed; Name=2; IsoId=Q8NAV2-2; Sequence=VSP_024876; Note=No experimental confirmation available.; 


uniprotID: Q8NEC5
geneSymbol: CATSPER1
reactome: R-HSA-1300642;
name: Cation channel sperm-associated protein 1 (CatSper1) (hCatSper)
length: 780
go: ENSG00000175294;
snps: rs1203998 rs3814747 rs34958219
sequence:

opentargets:
CatSper complex [GO:0036128]; motile cilium [GO:0031514]; plasma membrane [GO:0005886]; calcium activated cation channel activity [GO:0005227]; voltage-gated calcium channel activity [GO:0005245]; cell differentiation [GO:0030154]; flagellated sperm motility [GO:0030317]; multicellular organism development [GO:0007275]; regulation of cilium beat frequency involved in ciliary motility [GO:0060296]; regulation of ion transmembrane transport [GO:0034765]; sperm-egg recognition [GO:0035036]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane {ECO:0000269|PubMed:16625279}; Multi-pass membrane protein {ECO:0000269|PubMed:16625279}. Note=Specifically located in the principal piece of sperm tail.


uniprotID: Q5SY80
geneSymbol: CATSPERE
name: Cation channel sperm-associated protein subunit epsilon (CatSper-epsilon) (CatSperepsilon)
length: 951
go: ENSG00000179397;
opentargets: CatSper complex [GO:0036128]; sperm principal piece [GO:0097228]
snps: rs58602830 rs11586356
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5SY80-1; Sequence=Displayed; Name=2; IsoId=Q5SY80-2; Sequence=VSP_020748, VSP_020749; Note=No experimental confirmation available.; Name=3; IsoId=Q5SY80-3; Sequence=VSP_044251; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane {ECO:0000269|PubMed:28226241}; Single-pass type I membrane protein {ECO:0000255}. Note=Specifically located in the principal piece of sperm tail. {ECO:0000269|PubMed:28226241}.


uniprotID: Q16280
geneSymbol: CNGA2
reactome: R-HSA-5620916;
length: 664
go: ENSG00000183862;
snps: rs561786347 rs6627455 rs35350051 rs150539917 rs714147
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Cyclic nucleotide-gated olfactory channel (Cyclic nucleotide-gated cation channel 2) (Cyclic nucleotide-gated channel alpha-2) (CNG channel alpha-2) (CNG-2) (CNG2)

sequence:

opentargets:
ciliary membrane [GO:0060170]; Golgi membrane [GO:0000139]; Golgi-associated vesicle membrane [GO:0030660]; integral component of membrane [GO:0016021]; calmodulin binding [GO:0005516]; cAMP binding [GO:0030552]; cGMP binding [GO:0030553]; intracellular cAMP-activated cation channel activity [GO:0005222]; intracellular cGMP-activated cation channel activity [GO:0005223]; response to stimulus [GO:0050896]; sensory perception of smell [GO:0007608]


uniprotID: Q96LI5
geneSymbol: CNOT6L
reactome: R-HSA-429947;R-HSA-6804115;
pdb: 3NGN;3NGO;3NGQ;5DV2;5DV4;
length: 555
go: ENSG00000138767;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
CCR4-NOT transcription complex subunit 6-like (EC 3.1.13.4) (Carbon catabolite repressor protein 4 homolog B)

sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; poly(A)-specific ribonuclease activity [GO:0004535]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; gene silencing by RNA [GO:0031047]; mRNA destabilization [GO:0061157]; mRNA processing [GO:0006397]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytoplasmic mRNA processing body assembly [GO:0010606]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96LI5-1; Sequence=Displayed; Name=2; IsoId=Q96LI5-2; Sequence=VSP_030321, VSP_030322, VSP_030323; 


uniprotID: A5YKK6
geneSymbol: CNOT1
reactome: R-HSA-429947;R-HSA-6804115;
pdb: 4C0D;4CQO;4CRU;4CRV;4CRW;4CT4;4CT6;4CT7;4GMJ;4GML;4J8S;5ANR;5FU6;5FU7;5ONA;
length: 2376
go: ENSG00000125107;
snps: rs17854028
name:
CCR4-NOT transcription complex subunit 1 (CCR4-associated factor 1) (Negative regulator of transcription subunit 1 homolog) (NOT1H) (hNOT1)

sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; cytosol [GO:0005829]; extracellular space [GO:0005615]; membrane [GO:0016020]; nucleus [GO:0005634]; P-body [GO:0000932]; peroxisomal membrane [GO:0005778]; armadillo repeat domain binding [GO:0070016]; estrogen receptor binding [GO:0030331]; protein domain specific binding [GO:0019904]; protein-containing complex scaffold activity [GO:0032947]; retinoic acid receptor binding [GO:0042974]; RNA binding [GO:0003723]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; gene silencing by miRNA [GO:0035195]; multicellular organism development [GO:0007275]; negative regulation of intracellular estrogen receptor signaling pathway [GO:0033147]; negative regulation of retinoic acid receptor signaling pathway [GO:0048387]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of translation [GO:0017148]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; positive regulation of cytoplasmic mRNA processing body assembly [GO:0010606]; positive regulation of mRNA catabolic process [GO:0061014]; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:1900153]; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening [GO:0060213]; regulation of stem cell population maintenance [GO:2000036]; RNA phosphodiester bond hydrolysis, exonucleolytic [GO:0090503]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A5YKK6-1; Sequence=Displayed; Name=2; IsoId=A5YKK6-2; Sequence=VSP_030559; Name=3; IsoId=A5YKK6-3; Sequence=VSP_030559, VSP_030562, VSP_030563; Name=4; IsoId=A5YKK6-4; Sequence=VSP_030560, VSP_030561; 

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:21976065}. Nucleus {ECO:0000305|PubMed:21976065}. Note=NANOS2 promotes its localization to P-body. {ECO:0000250}.


uniprotID: Q9BYD5
geneSymbol: CNFN
name: Cornifelin
length: 112
go: ENSG00000105427;
opentargets: cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; keratinization [GO:0031424]
sequence:
MSYPVTSQPQCATTSCYQTQLSDWHTGLTDCCNDMPVCLCGTFAPLCLACRISDDFGECCCAPYLPGGLHSIRTGMRERYHIQGSVGHDWAALTFCLPCALCQMARELKIRE

location:
SUBCELLULAR LOCATION: Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope. {ECO:0000250}.


uniprotID: P39880
geneSymbol: CUX1
reactome: R-HSA-1839117;R-HSA-5655302;
name: Homeobox protein cut-like 1 (CCAAT displacement protein) (CDP) (Homeobox protein cux-1)
length: 1505
go: ENSG00000257923;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein binding, bridging [GO:0030674]; protein tyrosine kinase activity [GO:0004713]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; Golgi vesicle transport [GO:0048193]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of dendrite morphogenesis [GO:0050775]; regulation of transcription by RNA polymerase II [GO:0006357]; retrograde transport, vesicle recycling within Golgi [GO:0000301]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P39880-1; Sequence=Displayed; Name=2; IsoId=P39880-2; Sequence=VSP_002310; Name=3; IsoId=P39880-3; Sequence=VSP_015747; Note=No experimental confirmation available.; Name=5; IsoId=P39880-4; Sequence=VSP_017358; Name=6; IsoId=P39880-5; Sequence=VSP_017359; Name=7; IsoId=P39880-6; Sequence=VSP_017358, VSP_017359; Name=11; IsoId=P39880-9; Sequence=VSP_015747, VSP_045924, VSP_045925, VSP_045926; Note=No experimental confirmation available. {ECO:0000244|PubMed:23186163}; Name=4; Synonyms=CASP; IsoId=Q13948-1; Sequence=External; Name=8; IsoId=Q13948-2; Sequence=External; Note=No experimental confirmation available.; Name=9; IsoId=Q13948-9; Sequence=External; Note=No experimental confirmation available.; Name=10; IsoId=Q13948-10; Sequence=External; Note=No experimental confirmation available.; 


uniprotID: Q9NRU3
geneSymbol: CNNM1
name: Metal transporter CNNM1 (Ancient conserved domain-containing protein 1) (Cyclin-M1)
length: 951
go: ENSG00000119946;
snps: rs2298316
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
dendrite [GO:0030425]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; ion transport [GO:0006811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRU3-1; Sequence=Displayed; Name=2; IsoId=Q9NRU3-2; Sequence=VSP_027076; Note=No experimental confirmation available.; 


uniprotID: Q9ULM6
geneSymbol: CNOT6
reactome: R-HSA-429947;R-HSA-5617472;R-HSA-6804115;
length: 557
go: ENSG00000113300;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Nucleus {ECO:0000305}.
name:
CCR4-NOT transcription complex subunit 6 (EC 3.1.13.4) (CCR4 carbon catabolite repression 4-like) (Carbon catabolite repressor protein 4 homolog) (Cytoplasmic deadenylase)

sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; exoribonuclease activity [GO:0004532]; metal ion binding [GO:0046872]; poly(A)-specific ribonuclease activity [GO:0004535]; RNA binding [GO:0003723]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; gene silencing by miRNA [GO:0035195]; nuclear-transcribed mRNA catabolic process, no-go decay [GO:0070966]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytoplasmic mRNA processing body assembly [GO:0010606]; positive regulation of nuclear receptor transcription coactivator activity [GO:2000327]; regulation of translation [GO:0006417]


uniprotID: Q6ZV56
geneSymbol: C22orf34
name: Putative uncharacterized protein C22orf34
length: 151
sequence:
MCTVDVEGFDDVGETLSDAVRDGLGTILRGGAEEGSYDNWPHTRKSWGPLSPGHQRELWTQPDPWTEVLSGHKGDAGACGCCCFCSQFINARCAHPLCLARGLDRRASEEMPILQALCLLPKVSTRSITVPSPQRSAPRASLCPPHKGKSP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZV56-1; Sequence=Displayed; Name=2; IsoId=Q6ZV56-2; Sequence=VSP_027255, VSP_027256; Name=3; IsoId=Q6ZV56-3; Sequence=VSP_027257, VSP_027258; 


uniprotID: Q8N1L1
geneSymbol: LINC00528
name: Putative uncharacterized protein encoded by LINC00528
length: 170
sequence:
MALLLSDWCPDGDADTHTGTDPGRTTHRLCARERGVRGTQPCPRIYLRLPAQNCEETRFCCASPGSVVLGHGAPRTASPPSALSHPSPLEGLSFSPFPPSVLSHPSPPEGLSFSLFHCLCSGKLSESPGCFWNSLGWSFSVLTEPGVWKVGEAIWVAENLAQPLTSPCAC


uniprotID: P25940
geneSymbol: COL5A3
name: Collagen alpha-3(V) chain
length: 1745
go: ENSG00000080573;
snps: rs2303098 rs2287803 rs2161468 rs2287813 rs3815746 rs3745584 rs3745581 rs2277969
reactome:
R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-186797;R-HSA-2022090;R-HSA-216083;R-HSA-3000170;R-HSA-3000171;R-HSA-3000178;R-HSA-419037;R-HSA-8874081;R-HSA-8948216;

sequence:

opentargets:
collagen type V trimer [GO:0005588]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; collagen binding [GO:0005518]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; heparin binding [GO:0008201]; proteoglycan binding [GO:0043394]; cell adhesion [GO:0007155]; cell-matrix adhesion [GO:0007160]; collagen fibril organization [GO:0030199]; extracellular matrix organization [GO:0030198]; skin development [GO:0043588]


uniprotID: P01031
geneSymbol: C5
reactome: R-HSA-166665;R-HSA-174577;R-HSA-375276;R-HSA-418594;R-HSA-977606;
length: 1676
go: ENSG00000106804;
drug: DB01257;DB00028;
location: SUBCELLULAR LOCATION: Secreted.
pdb:
1CFA;1KJS;1XWE;3CU7;3HQA;3HQB;3KLS;3KM9;3PRX;3PVM;4A5W;4E0S;4P39;4UU9;5B4P;5B71;5HCC;5HCD;5HCE;5I5K;

name:
Complement C5 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4) [Cleaved into: Complement C5 beta chain; Complement C5 alpha chain; C5a anaphylatoxin; Complement C5 alpha' chain]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane attack complex [GO:0005579]; chemokine activity [GO:0008009]; endopeptidase inhibitor activity [GO:0004866]; signaling receptor binding [GO:0005102]; activation of MAPK activity [GO:0000187]; cell surface receptor signaling pathway [GO:0007166]; chemotaxis [GO:0006935]; complement activation, alternative pathway [GO:0006957]; complement activation, classical pathway [GO:0006958]; cytolysis [GO:0019835]; G protein-coupled receptor signaling pathway [GO:0007186]; in utero embryonic development [GO:0001701]; inflammatory response [GO:0006954]; negative regulation of macrophage chemotaxis [GO:0010760]; positive regulation of angiogenesis [GO:0045766]; positive regulation of chemokine secretion [GO:0090197]; positive regulation of vascular endothelial growth factor production [GO:0010575]; regulation of complement activation [GO:0030449]

snps:
rs17216529 rs34552775 rs2230213 rs17611 rs373359894 rs56040400 rs41309892 rs41309902 rs2230212 rs41311881 rs41311883 rs41311887 rs17609 rs17610 rs16910245 rs17612 


uniprotID: P12110
geneSymbol: COL6A2
name: Collagen alpha-2(VI) chain
length: 1019
go: ENSG00000142173;
sequence:

opentargets:
collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; protein-containing complex [GO:0032991]; sarcolemma [GO:0042383]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; cell adhesion [GO:0007155]; extracellular matrix organization [GO:0030198]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]; protein heterotrimerization [GO:0070208]; response to glucose [GO:0009749]

snps:
rs141703710 rs35881321 rs121912940 rs267606748 rs144801620 rs2839110 rs535007570 rs61735828 rs267606749 rs141166141 rs267606750 rs1042917 rs794727418 rs150098077 rs200585528 rs267606747 rs75120695 rs779847082 rs201736323 rs144830948 rs387906608 rs141233891 rs117725825 rs35548026 rs1051148162 rs11910483 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2C2; IsoId=P12110-1; Sequence=Displayed; Name=2C2A; IsoId=P12110-2; Sequence=VSP_001163, VSP_001164; Name=2C2A'; IsoId=P12110-3; Sequence=VSP_001161, VSP_001162; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:8305732}. Membrane {ECO:0000269|PubMed:8305732}; Peripheral membrane protein {ECO:0000269|PubMed:8305732}. Note=Recruited on membranes by CSPG4.


uniprotID: Q9Y3E2
geneSymbol: BOLA1
pdb: 5LCI;
name: BolA-like protein 1 (hBolA)
length: 137
go: ENSG00000178096;
snps: rs1044808
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22746225}.
sequence:
MLSGRLVLGLVSMAGRVCLCQGSAGSGAIGPVEAAIRTKLEEALSPEVLELRNESGGHAVPPGSETHFRVAVVSSRFEGLSPLQRHRLVHAALAEELGGPVHALAIQARTPAQWRENSQLDTSPPCLGGNKKTLGTP

opentargets:
mitochondrion [GO:0005739]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]


uniprotID: Q9BWV1
geneSymbol: BOC
reactome: R-HSA-375170;R-HSA-5632681;R-HSA-5635838;
pdb: 3N1G;3N1M;3N1P;
name: Brother of CDO (Protein BOC)
length: 1114
go: ENSG00000144857;
snps: rs367589886 rs35536878 rs3814405
sequence:

opentargets:
axonal growth cone [GO:0044295]; integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of myoblast differentiation [GO:0045663]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BWV1-1; Sequence=Displayed; Name=2; IsoId=Q9BWV1-2; Sequence=VSP_037603, VSP_037604; Note=No experimental confirmation available. Incomplete sequence.; Name=3; IsoId=Q9BWV1-3; Sequence=VSP_034684; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12634428}; Single-pass type I membrane protein {ECO:0000269|PubMed:12634428}. Note=Enriched at sites of cell-cell contact.


uniprotID: Q96IK1
geneSymbol: BOD1
length: 185
go: ENSG00000145919;
name:
Biorientation of chromosomes in cell division protein 1 (Biorientation defective protein 1) (Protein FAM44B)

sequence:
MADGGGGGGTGAVGGGGTSQASAGAATGATGASGGGGPINPASLPPGDPQLIALIVEQLKSRGLFDSFRRDCLADVDTKPAYQNLRQKVDNFVSTHLDKQEWNPTMNKNQLRNGLRQSVVQSGMLEAGVDRIISQVVDPKLNHIFRPQIERAIHEFLAAQKKAAVPAPPPEPEGQDPPAPSQDTS

opentargets:
centrosome [GO:0005813]; condensed chromosome outer kinetochore [GO:0000940]; cytoplasm [GO:0005737]; spindle microtubule [GO:0005876]; spindle pole [GO:0000922]; protein phosphatase 2A binding [GO:0051721]; protein phosphatase inhibitor activity [GO:0004864]; cell division [GO:0051301]; mitotic metaphase plate congression [GO:0007080]; mitotic sister chromatid biorientation [GO:1990758]; mitotic sister chromatid cohesion, centromeric [GO:0071962]; negative regulation of phosphoprotein phosphatase activity [GO:0032515]; protein localization to chromosome, centromeric region [GO:0071459]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IK1-1; Sequence=Displayed; Name=2; IsoId=Q96IK1-2; Sequence=VSP_016161, VSP_016162; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17938248}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:17938248}. Note=Localizes at the centrosomes throughout the cell cycle, only dissociating during cytokinesis. Localizes at the kinetochore from prometaphase until anaphase.


uniprotID: Q14137
geneSymbol: BOP1
reactome: R-HSA-6791226;
name: Ribosome biogenesis protein BOP1 (Block of proliferation 1 protein)
length: 746
go: ENSG00000261236;
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PeBoW complex [GO:0070545]; preribosome, large subunit precursor [GO:0030687]; ribonucleoprotein complex [GO:1990904]; ribonucleoprotein complex binding [GO:0043021]; RNA binding [GO:0003723]; cell proliferation [GO:0008283]; cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000448]; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000463]; regulation of cell cycle [GO:0051726]; regulation of signal transduction by p53 class mediator [GO:1901796]; ribosomal large subunit assembly [GO:0000027]; ribosome biogenesis [GO:0042254]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14137-1; Sequence=Displayed; Name=2; IsoId=Q14137-2; Sequence=VSP_056391; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000255|HAMAP-Rule:MF_03027, ECO:0000269|PubMed:12429849}. Nucleus, nucleoplasm {ECO:0000255|HAMAP-Rule:MF_03027, ECO:0000269|PubMed:12429849}.


uniprotID: Q7Z5Y6
geneSymbol: BMP8A
name: Bone morphogenetic protein 8A (BMP-8A)
length: 402
go: ENSG00000183682;
snps: rs4660269 rs6525
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular space [GO:0005615]; BMP receptor binding [GO:0070700]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160]; BMP signaling pathway [GO:0030509]; cartilage development [GO:0051216]; cell development [GO:0048468]; diet induced thermogenesis [GO:0002024]; energy homeostasis [GO:0097009]; negative regulation of insulin secretion [GO:0046676]; ossification [GO:0001503]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; SMAD protein signal transduction [GO:0060395]


uniprotID: P34820
geneSymbol: BMP8B
name: Bone morphogenetic protein 8B (BMP-8) (BMP-8B) (Osteogenic protein 2) (OP-2)
length: 402
go: ENSG00000116985;
snps: rs6525
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; BMP receptor binding [GO:0070700]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160]; BMP signaling pathway [GO:0030509]; cartilage development [GO:0051216]; cell development [GO:0048468]; ossification [GO:0001503]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; skeletal system development [GO:0001501]; SMAD protein signal transduction [GO:0060395]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P34820-1; Sequence=Displayed; Name=2; IsoId=P34820-2; Sequence=VSP_056842, VSP_056843; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q86VU5
geneSymbol: COMTD1
pdb: 2AVD;
name: Catechol O-methyltransferase domain-containing protein 1 (EC 2.1.1.-)
length: 262
go: ENSG00000165644;
drug: DB03923;DB01752;DB03179;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; O-methyltransferase activity [GO:0008171]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]


uniprotID: Q7Z569
geneSymbol: BRAP
reactome: R-HSA-5673000;R-HSA-5675221;R-HSA-6802946;R-HSA-6802949;R-HSA-6802955;
length: 592
go: ENSG00000089234;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9497340}.
name:
BRCA1-associated protein (EC 2.3.2.27) (BRAP2) (Impedes mitogenic signal propagation) (IMP) (RING finger protein 52) (RING-type E3 ubiquitin transferase BRAP2) (Renal carcinoma antigen NY-REN-63)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; ubiquitin ligase complex [GO:0000151]; identical protein binding [GO:0042802]; nuclear localization sequence binding [GO:0008139]; nucleic acid binding [GO:0003676]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; MAPK cascade [GO:0000165]; negative regulation of signal transduction [GO:0009968]; protein ubiquitination [GO:0016567]; Ras protein signal transduction [GO:0007265]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z569-1; Sequence=Displayed; Name=2; IsoId=Q7Z569-2; Sequence=VSP_055881, VSP_055882; Note=No experimental confirmation available.; 


uniprotID: Q9H8M2
geneSymbol: BRD9
name: Bromodomain-containing protein 9 (Rhabdomyosarcoma antigen MU-RMS-40.8)
length: 597
go: ENSG00000028310;
snps: rs34292369 rs34292369 rs414349
pdb:
3HME;4NQN;4UIT;4UIU;4UIV;4UIW;4XY8;4YY4;4YY6;4YYD;4YYG;4YYH;4YYI;4YYJ;4YYK;4Z6H;4Z6I;5E9V;5EU1;5F1H;5F1L;5F25;5F2P;5I40;5I7X;5I7Y;5IGM;5IGN;5JI8;5MKY;5TWX;

sequence:

opentargets:
SWI/SNF complex [GO:0016514]; lysine-acetylated histone binding [GO:0070577]; nucleic acid binding [GO:0003676]; chromatin organization [GO:0006325]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9H8M2-5; Sequence=Displayed; Name=2; IsoId=Q9H8M2-2; Sequence=VSP_019112; Note=No experimental confirmation available.; Name=3; IsoId=Q9H8M2-3; Sequence=VSP_037493, VSP_037494; Note=No experimental confirmation available.; Name=4; IsoId=Q9H8M2-4; Sequence=VSP_037493, VSP_037494, VSP_019114, VSP_019115; Note=No experimental confirmation available.; Name=5; IsoId=Q9H8M2-1; Sequence=VSP_037493, VSP_037494, VSP_019113; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; IsoId=Q9H8M2-6; Sequence=VSP_037493, VSP_043234; Note=No experimental confirmation available.; 


uniprotID: Q6PJG6
geneSymbol: BRAT1
pdb: 4IFI;
name: BRCA1-associated ATM activator 1 (BRCA1-associated protein required for ATM activation protein 1)
length: 821
go: ENSG00000106009;
snps: rs17856488 rs60152725
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; apoptotic process [GO:0006915]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cellular response to DNA damage stimulus [GO:0006974]; glucose metabolic process [GO:0006006]; mitochondrion localization [GO:0051646]; positive regulation of cell growth [GO:0030307]; positive regulation of protein phosphorylation [GO:0001934]; response to ionizing radiation [GO:0010212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PJG6-1; Sequence=Displayed; Name=2; IsoId=Q6PJG6-2; Sequence=VSP_021289, VSP_021290; Note=No experimental confirmation available.; Name=3; IsoId=Q6PJG6-3; Sequence=VSP_021288, VSP_021291; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16452482, ECO:0000269|PubMed:25631046}. Cytoplasm {ECO:0000269|PubMed:25631046}. Note=Present at double strand breaks (DSBs)following ionizing radiation treatment. The ubiquitinated form localizes in the nucleus in a NDFIP1-dependent manner. {ECO:0000269|PubMed:16452482, ECO:0000269|PubMed:25631046}.


uniprotID: Q8NCQ2
geneSymbol: CSNK1G2-AS1
name: Uncharacterized protein CSNK1G2-AS1 (CSNK1G2 antisense RNA 1) (CSNK1G2 antisense gene protein 1)
length: 148
sequence:
MGRAGPRSTADTRPRATVITTRRPRPWQKPTSPRRLHRRRPRGQPASENAAEPSQVAISKGKSPDYANGGKAAMDSRASDAINKSKVDTSASNPSQRRPSRLRGKRSLALPPRLECLFPSSCGSRRATSRPGFPPLEGSHLGCQLLPL


uniprotID: Q8WUW1
geneSymbol: BRK1
reactome: R-HSA-2029482;R-HSA-4420097;R-HSA-5663213;
pdb: 3P8C;4N78;
name: Protein BRICK1 (BRK1)
sequence: MAGQEDPVQREIHQDWANREYIEIITSSIKKIADFLNSFDMSCRSRLATLNEKLTALERRIEYIEARVTKGETLT
length: 75
go: ENSG00000254999;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; lamellipodium [GO:0030027]; SCAR complex [GO:0031209]; protein-containing complex binding [GO:0044877]; actin filament organization [GO:0007015]; cell motility [GO:0048870]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; in utero embryonic development [GO:0001701]; positive regulation of Arp2/3 complex-mediated actin nucleation [GO:2000601]; positive regulation of cell proliferation [GO:0008284]; positive regulation of lamellipodium assembly [GO:0010592]; protein homotrimerization [GO:0070207]; Rac protein signal transduction [GO:0016601]; regulation of actin polymerization or depolymerization [GO:0008064]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WUW1-1; Sequence=Displayed; Name=2; IsoId=Q8WUW1-2; Sequence=VSP_024350; Note=No experimental confirmation available.; 


uniprotID: Q5VTR2
geneSymbol: RNF20
reactome: R-HSA-8866654;
pdb: 5TRB;
length: 975
go: ENSG00000155827;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19037095, ECO:0000305|PubMed:16337599}.
name:
E3 ubiquitin-protein ligase BRE1A (BRE1-A) (hBRE1) (EC 2.3.2.27) (RING finger protein 20) (RING-type E3 ubiquitin transferase BRE1A)

sequence:

opentargets:
HULC complex [GO:0033503]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; mRNA 3'-UTR binding [GO:0003730]; p53 binding [GO:0002039]; transcription coactivator activity [GO:0003713]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; histone H2B ubiquitination [GO:0033523]; histone monoubiquitination [GO:0010390]; negative regulation of cell migration [GO:0030336]; negative regulation of mRNA polyadenylation [GO:1900364]; positive regulation of histone H2B ubiquitination [GO:2001168]; positive regulation of histone methylation [GO:0031062]; positive regulation of transcription, DNA-templated [GO:0045893]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of transcription, DNA-templated [GO:0006355]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: O95415
geneSymbol: BRI3
reactome: R-HSA-6798695;
name: Brain protein I3 (pRGR2)
length: 125
go: ENSG00000164713;
snps: rs12865
sequence:
MDHKPLLQERPPAYNLEAGQGDYACGPHGYGAIPAAPPPPPYPYLVTGIPTHHPRVYNIHSRTVTRYPANSIVVVGGCPVCRVGVLEDCFTFLGIFLAIILFPFGFICCFALRKRRCPNCGATFA

opentargets:
azurophil granule membrane [GO:0035577]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; neutrophil degranulation [GO:0043312]

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:14592447}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9NSA3
geneSymbol: CTNNBIP1
reactome: R-HSA-3769402;
pdb: 1LUJ;1M1E;1T08;
name: Beta-catenin-interacting protein 1 (Inhibitor of beta-catenin and Tcf-4)
sequence: MNREGAPGKSPEEMYIQQKVRVLLMLRKMGSNLTASEEEFLRTYAGVVNSQLSQLPPHSIDQGAEDVVMAFSRSETEDRRQ
length: 81
go: ENSG00000178585;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
opentargets:
beta-catenin destruction complex [GO:0030877]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; armadillo repeat domain binding [GO:0070016]; beta-catenin binding [GO:0008013]; anterior/posterior pattern specification [GO:0009952]; branching involved in ureteric bud morphogenesis [GO:0001658]; negative regulation of DNA binding [GO:0043392]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of mesenchymal cell proliferation [GO:0072201]; negative regulation of protein binding [GO:0032091]; negative regulation of smooth muscle cell proliferation [GO:0048662]; negative regulation of transcription initiation from RNA polymerase II promoter [GO:0060633]; negative regulation of Wnt signaling pathway [GO:0030178]; positive regulation of monocyte differentiation [GO:0045657]; positive regulation of osteoblast differentiation [GO:0045669]; regulation of vascular permeability involved in acute inflammatory response [GO:0002528]; Wnt signaling pathway [GO:0016055]


uniprotID: Q96NH3
geneSymbol: TBC1D32
name: Protein broad-minded (TBC1 domain family member 32)
length: 1257
go: ENSG00000146350;
snps: rs7767455 rs9490157 rs9387944 rs7745023
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell projection, cilium {ECO:0000250}.
sequence:

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; determination of left/right symmetry [GO:0007368]; embryonic digit morphogenesis [GO:0042733]; heart development [GO:0007507]; lens development in camera-type eye [GO:0002088]; non-motile cilium assembly [GO:1905515]; protein localization to cilium [GO:0061512]; retinal pigment epithelium development [GO:0003406]; smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:0060831]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96NH3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96NH3-4; Sequence=VSP_014546; Note=No experimental confirmation available.; Name=3; IsoId=Q96NH3-5; Sequence=VSP_035579, VSP_035580; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: P34972
geneSymbol: CNR2
reactome: R-HSA-373076;R-HSA-418594;
pdb: 2KI9;
name: Cannabinoid receptor 2 (CB-2) (CB2) (hCB2) (CX5)
length: 360
go: ENSG00000188822;
drug: DB00470;DB00486;
snps: rs2501432 rs2229579
sequence:

opentargets:
dendrite [GO:0030425]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; integral component of plasma membrane [GO:0005887]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; cannabinoid receptor activity [GO:0004949]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; immune response [GO:0006955]; inflammatory response [GO:0006954]; leukocyte chemotaxis [GO:0030595]; negative regulation of action potential [GO:0045759]; negative regulation of inflammatory response [GO:0050728]; negative regulation of mast cell activation [GO:0033004]; negative regulation of nitric-oxide synthase activity [GO:0051001]; negative regulation of synaptic transmission, GABAergic [GO:0032229]; response to amphetamine [GO:0001975]; response to lipopolysaccharide [GO:0032496]; sensory perception of pain [GO:0019233]

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell projection, dendrite {ECO:0000250}. Perikaryon {ECO:0000250}. Note=Localizes to apical dendrite of pyramidal neurons. {ECO:0000250}.


uniprotID: Q96F85
geneSymbol: CNRIP1
name: CB1 cannabinoid receptor-interacting protein 1 (CRIP-1)
length: 164
go: ENSG00000119865;
sequence:
MGDLPGLVRLSIALRIQPNDGPVFYKVDGQRFGQNRTIKLLTGSSYKVEVKIKPSTLQVENISIGGVLVPLELKSKEPDGDRVVYTGTYDTEGVTPTKSGERQPIQITMPFTDIGTFETVWQVKFYNYHKRDHCQWGSPFSVIEYECKPNETRSLMWVNKESFL

opentargets:
cytoplasm [GO:0005737]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; protein C-terminus binding [GO:0008022]; type 1 cannabinoid receptor binding [GO:0031718]; negative regulation of signaling receptor activity [GO:2000272]; regulation of signaling receptor activity [GO:0010469]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CRIP1a; IsoId=Q96F85-1; Sequence=Displayed; Name=2; Synonyms=CRIP1b; IsoId=Q96F85-2; Sequence=VSP_035598; 


uniprotID: Q6PJW8
geneSymbol: CNST
name: Consortin
length: 725
go: ENSG00000162852;
snps: rs35286882 rs6702823 rs12091148 rs12075111
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; trans-Golgi network [GO:0005802]; transport vesicle [GO:0030133]; connexin binding [GO:0071253]; phosphatase binding [GO:0019902]; negative regulation of phosphatase activity [GO:0010923]; positive regulation of Golgi to plasma membrane protein transport [GO:0042998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PJW8-1; Sequence=Displayed; Name=2; IsoId=Q6PJW8-2; Sequence=VSP_025819, VSP_025820; Name=3; IsoId=Q6PJW8-3; Sequence=VSP_025817, VSP_025818; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19864490}; Single-pass membrane protein {ECO:0000269|PubMed:19864490}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:19864490}; Single-pass membrane protein {ECO:0000269|PubMed:19864490}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:19864490}. Note=Located predominantly in the trans-Golgi network. Probably trafficks between the trans-Golgi network and the cell membrane via the secretory pathway.


uniprotID: Q8IWQ3
geneSymbol: BRSK2
length: 736
go: ENSG00000174672;
name:
Serine/threonine-protein kinase BRSK2 (EC 2.7.11.1) (Brain-selective kinase 2) (EC 2.7.11.26) (Brain-specific serine/threonine-protein kinase 2) (BR serine/threonine-protein kinase 2) (Serine/threonine-protein kinase 29) (Serine/threonine-protein kinase SAD-A)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; distal axon [GO:0150034]; endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; ATPase binding [GO:0051117]; ATPase regulator activity [GO:0060590]; magnesium ion binding [GO:0000287]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; tau-protein kinase activity [GO:0050321]; actin cytoskeleton reorganization [GO:0031532]; axonogenesis [GO:0007409]; cell division [GO:0051301]; ERAD pathway [GO:0036503]; establishment of cell polarity [GO:0030010]; exocytosis [GO:0006887]; G2/M transition of mitotic cell cycle [GO:0000086]; intracellular signal transduction [GO:0035556]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; microtubule cytoskeleton organization involved in establishment of planar polarity [GO:0090176]; neuron differentiation [GO:0030182]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]; regulation of ATPase activity [GO:0043462]; regulation of axonogenesis [GO:0050770]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; regulation of neuron projection development [GO:0010975]; regulation of retrograde protein transport, ER to cytosol [GO:1904152]; regulation of synaptic vesicle clustering [GO:2000807]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8IWQ3-1; Sequence=Displayed; Name=2; IsoId=Q8IWQ3-2; Sequence=VSP_008154, VSP_008155; Name=3; IsoId=Q8IWQ3-3; Sequence=VSP_008156, VSP_008157; Name=4; IsoId=Q8IWQ3-4; Sequence=VSP_013945, VSP_008154, VSP_008155; Name=5; IsoId=Q8IWQ3-5; Sequence=VSP_022603, VSP_022604; Note=No experimental confirmation available.; Name=6; IsoId=Q8IWQ3-6; Sequence=VSP_055679, VSP_008154, VSP_008155; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, perinuclear region. Endoplasmic reticulum. Note=Detected at centrosomes during mitosis. Localizes to the endoplasmic reticulum in response to stress caused by tunicamycin.


uniprotID: Q96G97
geneSymbol: BSCL2
name: Seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein)
length: 398
go: ENSG00000168000;
snps: rs137852972 rs137852973 rs137852971
sequence:

opentargets:
integral component of endoplasmic reticulum membrane [GO:0030176]; fat cell differentiation [GO:0045444]; lipid catabolic process [GO:0016042]; lipid droplet organization [GO:0034389]; lipid storage [GO:0019915]; negative regulation of lipid catabolic process [GO:0050995]; positive regulation of cold-induced thermogenesis [GO:0120162]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96G97-2; Sequence=Displayed; Name=2; IsoId=Q96G97-3; Sequence=VSP_051726, VSP_051727; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q96G97-4; Sequence=VSP_044545; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:16574104, ECO:0000269|PubMed:18458148}; Multi-pass membrane protein {ECO:0000269|PubMed:14981520, ECO:0000269|PubMed:16574104, ECO:0000269|PubMed:18458148}.


uniprotID: Q9NW68
geneSymbol: BSDC1
name: BSD domain-containing protein 1
length: 430
go: ENSG00000160058;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=Q9NW68-1; Sequence=Displayed; Name=2; IsoId=Q9NW68-2; Sequence=VSP_024222, VSP_024223; Name=3; IsoId=Q9NW68-3; Sequence=VSP_024218, VSP_024224; Name=4; IsoId=Q9NW68-4; Sequence=VSP_024217, VSP_024224; Name=5; IsoId=Q9NW68-5; Sequence=VSP_024219, VSP_024220; Note=No experimental confirmation available.; Name=6; IsoId=Q9NW68-6; Sequence=VSP_024216, VSP_024221, VSP_024224; Note=No experimental confirmation available.; Name=7; IsoId=Q9NW68-7; Sequence=VSP_024218; Name=8; IsoId=Q9NW68-8; Sequence=VSP_041673; Name=9; IsoId=Q9NW68-9; Sequence=VSP_041672; 


uniprotID: Q3C1V8
geneSymbol: BSX
name: Brain-specific homeobox protein homolog
length: 233
go: ENSG00000188909;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q810B3}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; eating behavior [GO:0042755]; locomotory behavior [GO:0007626]; mammary gland involution [GO:0060056]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q8IWV2
geneSymbol: CNTN4
reactome: R-HSA-163125;
name: Contactin-4 (Brain-derived immunoglobulin superfamily protein 2) (BIG-2)
length: 1026
go: ENSG00000144619;
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. Secreted {ECO:0000250}.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; axon [GO:0030424]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; cell-cell adhesion mediator activity [GO:0098632]; axon guidance [GO:0007411]; axonal fasciculation [GO:0007413]; axonogenesis [GO:0007409]; brain development [GO:0007420]; dendrite self-avoidance [GO:0070593]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; negative regulation of neuron differentiation [GO:0045665]; nervous system development [GO:0007399]; neuron cell-cell adhesion [GO:0007158]; neuron projection development [GO:0031175]; regulation of synaptic plasticity [GO:0048167]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IWV2-1; Sequence=Displayed; Name=2; Synonyms=CNTN4A; IsoId=Q8IWV2-2; Sequence=VSP_011961; Name=3; IsoId=Q8IWV2-3; Sequence=VSP_044270, VSP_011962; Note=No experimental confirmation available.; Name=4; IsoId=Q8IWV2-4; Sequence=VSP_044270; 


uniprotID: O94779
geneSymbol: CNTN5
reactome: R-HSA-163125;
pdb: 4N68;5E52;
name: Contactin-5 (Neural recognition molecule NB-2) (hNB-2)
length: 1100
go: ENSG00000149972;
snps: rs10790978 rs7125822 rs10893933 rs11223168 rs1944169 rs1216183 rs35208161
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
sequence:

opentargets:
anchored component of presynaptic membrane [GO:0099026]; cytosol [GO:0005829]; extracellular region [GO:0005576]; GABA-ergic synapse [GO:0098982]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; presynapse assembly [GO:0099054]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=O94779-1; Sequence=Displayed; Name=2; Synonyms=Short, HNB-2s; IsoId=O94779-2; Sequence=VSP_011967; Name=3; IsoId=O94779-4; Sequence=VSP_045995; Note=No experimental confirmation available.; 


uniprotID: Q9C0A0
geneSymbol: CNTNAP4
pdb: 4NXQ;
name: Contactin-associated protein-like 4 (Cell recognition molecule Caspr4)
length: 1308
go: ENSG00000152910;
snps: rs34251012 rs6564343 rs12933808 rs7202925 rs34198820
sequence:

opentargets:
cell junction [GO:0030054]; dendrite [GO:0030425]; GABA-ergic synapse [GO:0098982]; integral component of presynaptic membrane [GO:0099056]; presynaptic membrane [GO:0042734]; cell adhesion [GO:0007155]; regulation of grooming behavior [GO:2000821]; regulation of synapse organization [GO:0050807]; regulation of synaptic transmission, dopaminergic [GO:0032225]; regulation of synaptic transmission, GABAergic [GO:0032228]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C0A0-1; Sequence=Displayed; Name=2; IsoId=Q9C0A0-2; Sequence=VSP_044464, VSP_044465; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, presynaptic cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Specifically present within the presynaptic compartment of synapses. {ECO:0000250}.


uniprotID: Q8N137
geneSymbol: CNTROB
name: Centrobin (Centrosomal BRCA2-interacting protein) (LYST-interacting protein 8)
length: 903
go: ENSG00000170037;
snps: rs35421969 rs11650083
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; protein domain specific binding [GO:0019904]; centriole replication [GO:0007099]; centrosome separation [GO:0051299]; mitotic cytokinetic process [GO:1902410]; regulation of cilium assembly [GO:1902017]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Alpha; IsoId=Q8N137-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q8N137-2; Sequence=VSP_016838; Name=3; IsoId=Q8N137-3; Sequence=VSP_016839; Note=No experimental confirmation available.; Name=4; IsoId=Q8N137-4; Sequence=VSP_016836, VSP_016837; Note=No experimental confirmation available.; Name=5; IsoId=Q8N137-5; Sequence=VSP_016840, VSP_016841; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:16275750}. Note=Centriole-associated, asymmetrically localizes to the daughter centriole.


uniprotID: Q9UPA5
geneSymbol: BSN
name: Protein bassoon (Zinc finger protein 231)
length: 3926
go: ENSG00000164061;
snps: rs34762726 rs35762866 rs2005557
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; cell surface [GO:0009986]; cytoskeleton of presynaptic active zone [GO:0048788]; dendrite [GO:0030425]; excitatory synapse [GO:0060076]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; neuron projection terminus [GO:0044306]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; presynaptic active zone [GO:0048786]; Schaffer collateral - CA1 synapse [GO:0098685]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; metal ion binding [GO:0046872]; structural constituent of presynaptic active zone [GO:0098882]; chemical synaptic transmission [GO:0007268]; presynapse to nucleus signaling pathway [GO:0099526]; protein localization to synapse [GO:0035418]; regulation of synaptic vesicle cycle [GO:0098693]; synapse assembly [GO:0007416]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O88778}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:O88778}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:O88778}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:O88778}; Peripheral membrane protein {ECO:0000250|UniProtKB:O88778}. Note=Localized to the active zone of presynaptic density. In retina, is localized in the outer plexiform layer at ribbon synapses formed by rods and cones but was absent from basal synaptic contacts formed by cones. In the retinal inner plexiform layer localized to conventional inhibitory GABAergic synapses, made by amacrine cells, but absent from the bipolar cell ribbon synapses. {ECO:0000250|UniProtKB:O88778}.


uniprotID: Q10588
geneSymbol: BST1
reactome: R-HSA-163125;R-HSA-196807;R-HSA-6798695;
pdb: 1ISF;1ISG;1ISH;1ISI;1ISJ;1ISM;
length: 318
go: ENSG00000109743;
drug: DB01660;DB02483;DB03732;DB02701;DB03227;
snps: rs2302466 rs6840615 rs2302465 rs2302464
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
name:
ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (EC 3.2.2.6) (ADP-ribosyl cyclase 2) (Bone marrow stromal antigen 1) (BST-1) (Cyclic ADP-ribose hydrolase 2) (cADPr hydrolase 2) (CD antigen CD157)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extrinsic component of membrane [GO:0019898]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; uropod [GO:0001931]; ADP-ribosyl cyclase activity [GO:0061811]; cyclic ADP-ribose hydrolase [GO:0061812]; NAD(P)+ nucleosidase activity [GO:0050135]; NAD+ nucleosidase activity [GO:0003953]; NAD+ nucleotidase, cyclic ADP-ribose generating [GO:0061809]; phosphorus-oxygen lyase activity [GO:0016849]; transferase activity [GO:0016740]; humoral immune response [GO:0006959]; NAD metabolic process [GO:0019674]; neutrophil degranulation [GO:0043312]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cell proliferation [GO:0008284]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of calcium-mediated signaling [GO:0050848]; regulation of cell-matrix adhesion [GO:0001952]; regulation of cellular extravasation [GO:0002691]; regulation of inflammatory response [GO:0050727]; regulation of integrin-mediated signaling pathway [GO:2001044]; regulation of neutrophil chemotaxis [GO:0090022]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; regulation of superoxide metabolic process [GO:0090322]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q10588-1; Sequence=Displayed; Name=2; IsoId=Q10588-2; Sequence=VSP_055507; Note=No experimental confirmation available.; 


uniprotID: Q13410
geneSymbol: BTN1A1
reactome: R-HSA-8851680;
name: Butyrophilin subfamily 1 member A1 (BT)
length: 526
go: ENSG00000124557;
snps: rs3736781 rs1980600 rs9393728 rs35555795
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Secreted.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; signaling receptor binding [GO:0005102]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]


uniprotID: H3BRN8
geneSymbol: C15orf65
name: Uncharacterized protein C15orf65
length: 121
go: ENSG00000261652;
sequence:
MTDRNRDKKSTSPSNSDTEMKSEQLPPCVNPGNPVFSCMLDPKTLQTATSLSKPQMIMYKTNSSHYGEFLPIPQFFPCNYTPKEQVFSSHIRATGFYQNNTLNTAPDRTRTLDFPNIQHTL


uniprotID: Q7KYR7
geneSymbol: BTN2A1
reactome: R-HSA-8851680;
name: Butyrophilin subfamily 2 member A1
length: 527
go: ENSG00000112763;
snps: rs3734539 rs13195402 rs13195401 rs13195509 rs3734542 rs3734543
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; lipid metabolic process [GO:0006629]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q7KYR7-2; Sequence=Displayed; Name=2; IsoId=Q7KYR7-1; Sequence=VSP_035843, VSP_035844; Name=3; IsoId=Q7KYR7-3; Sequence=VSP_012708; Note=No experimental confirmation available.; Name=4; IsoId=Q7KYR7-4; Sequence=VSP_043165, VSP_043166; Note=No experimental confirmation available.; Name=5; IsoId=Q7KYR7-5; Sequence=VSP_044249; Name=6; IsoId=Q7KYR7-6; Sequence=VSP_045005, VSP_045006; Note=No experimental confirmation available.; 


uniprotID: Q8WVV5
geneSymbol: BTN2A2
reactome: R-HSA-8851680;
name: Butyrophilin subfamily 2 member A2
length: 523
go: ENSG00000124508;
snps: rs16891646
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; negative regulation of activated T cell proliferation [GO:0046007]; negative regulation of cellular metabolic process [GO:0031324]; negative regulation of cytokine secretion [GO:0050710]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of phosphatidylinositol 3-kinase signaling [GO:0014067]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of T cell receptor signaling pathway [GO:0050860]; positive regulation of regulatory T cell differentiation [GO:0045591]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8WVV5-1; Sequence=Displayed; Name=2; IsoId=Q8WVV5-2; Sequence=VSP_012712, VSP_012713; Note=No experimental confirmation available.; Name=3; IsoId=Q8WVV5-3; Sequence=VSP_043562, VSP_043563, VSP_043564; Note=No experimental confirmation available.; Name=4; IsoId=Q8WVV5-4; Sequence=VSP_043561; Note=No experimental confirmation available.; Name=5; IsoId=Q8WVV5-5; Sequence=VSP_044861; Note=No experimental confirmation available.; 


uniprotID: Q96KV6
geneSymbol: BTN2A3P
name: Putative butyrophilin subfamily 2 member A3
length: 586
snps: rs7745238 rs10946829 rs2893848
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; signaling receptor binding [GO:0005102]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]


uniprotID: O00481
geneSymbol: BTN3A1
reactome: R-HSA-8851680;
pdb: 4F80;4F9L;4F9P;4JKW;4K55;4N7I;4N7U;4V1P;5HM7;5LYG;5LYK;
name: Butyrophilin subfamily 3 member A1 (CD antigen CD277)
length: 513
go: ENSG00000026950;
snps: rs56161420 rs1057933 rs41266839 rs4712990
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; activated T cell proliferation [GO:0050798]; adaptive immune response [GO:0002250]; cytokine secretion [GO:0050663]; interferon-gamma secretion [GO:0072643]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O00481-1; Sequence=Displayed; Name=2; IsoId=O00481-2; Sequence=VSP_012714, VSP_012715; Note=No experimental confirmation available.; Name=3; IsoId=O00481-3; Sequence=VSP_042034; Note=No experimental confirmation available.; Name=4; IsoId=O00481-4; Sequence=VSP_045062; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21113407, ECO:0000269|PubMed:21918970, ECO:0000269|PubMed:22767497}; Single-pass type I membrane protein {ECO:0000269|PubMed:21113407, ECO:0000269|PubMed:21918970, ECO:0000269|PubMed:22767497}.


uniprotID: P78410
geneSymbol: BTN3A2
reactome: R-HSA-8851680;
pdb: 4F8Q;
name: Butyrophilin subfamily 3 member A2
length: 334
go: ENSG00000186470;
snps: rs9379861 rs9358936 rs12205731 rs35183513 rs13216828
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; interferon-gamma secretion [GO:0072643]; regulation of immune response [GO:0050776]; T cell mediated immunity [GO:0002456]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P78410-1; Sequence=Displayed; Name=2; IsoId=P78410-2; Sequence=VSP_045907; Note=No experimental confirmation available.; Name=3; IsoId=P78410-3; Sequence=VSP_045906; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21918970, ECO:0000269|PubMed:22767497}; Single-pass type I membrane protein {ECO:0000269|PubMed:21918970, ECO:0000269|PubMed:22767497}.


uniprotID: O00478
geneSymbol: BTN3A3
reactome: R-HSA-8851680;
pdb: 4F8T;
name: Butyrophilin subfamily 3 member A3
length: 584
go: ENSG00000111801;
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; regulation of immune response [GO:0050776]; T cell mediated immunity [GO:0002456]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00478-1; Sequence=Displayed; Name=2; IsoId=O00478-2; Sequence=VSP_045063, VSP_045064; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21918970, ECO:0000269|PubMed:22767497}; Single-pass type I membrane protein {ECO:0000269|PubMed:21918970, ECO:0000269|PubMed:22767497}.


uniprotID: O14981
geneSymbol: BTAF1
length: 1849
go: ENSG00000095564;
location: SUBCELLULAR LOCATION: Nucleus.
name:
TATA-binding protein-associated factor 172 (EC 3.6.4.-) (ATP-dependent helicase BTAF1) (B-TFIID transcription factor-associated 170 kDa subunit) (TAF(II)170) (TBP-associated factor 172) (TAF-172)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; helicase activity [GO:0004386]; negative regulation of chromatin binding [GO:0035562]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14981-1; Sequence=Displayed; Name=2; IsoId=O14981-2; Sequence=VSP_056510; Note=No experimental confirmation available.; 


uniprotID: P08123
geneSymbol: COL1A2
pdb: 5CTD;5CTI;5CVA;
name: Collagen alpha-2(I) chain (Alpha-2 type I collagen)
length: 1366
go: ENSG00000164692;
drug: DB00048;
reactome:
R-HSA-114604;R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-198933;R-HSA-2022090;R-HSA-202733;R-HSA-216083;R-HSA-2214320;R-HSA-2243919;R-HSA-3000170;R-HSA-3000171;R-HSA-3000178;R-HSA-3000480;R-HSA-430116;R-HSA-6785807;R-HSA-75892;R-HSA-76009;R-HSA-8874081;R-HSA-8948216;

sequence:

opentargets:
collagen type I trimer [GO:0005584]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; platelet-derived growth factor binding [GO:0048407]; protease binding [GO:0002020]; protein binding, bridging [GO:0030674]; SMAD binding [GO:0046332]; blood coagulation [GO:0007596]; blood vessel development [GO:0001568]; cellular response to amino acid stimulus [GO:0071230]; collagen fibril organization [GO:0030199]; cytokine-mediated signaling pathway [GO:0019221]; extracellular matrix organization [GO:0030198]; leukocyte migration [GO:0050900]; odontogenesis [GO:0042476]; platelet activation [GO:0030168]; protein heterotrimerization [GO:0070208]; regulation of blood pressure [GO:0008217]; regulation of immune response [GO:0050776]; Rho protein signal transduction [GO:0007266]; skeletal system development [GO:0001501]; skin morphogenesis [GO:0043589]; transforming growth factor beta receptor signaling pathway [GO:0007179]

snps:
rs1800221 rs72656370 rs72656376 rs72656378 rs1206388800 rs1800228 rs72656385 rs67525025 rs368468 rs1800231 rs72656393 rs72656395 rs66612022 rs67729041 rs67865220 rs67865220 rs16868573 rs66773001 rs66619856 rs72658109 rs72658114 rs72658117 rs72658118 rs414408 rs66999265 rs72658126 rs72658130 rs41317144 rs72658136 rs42524 rs72658138 rs41317153 rs72658139 rs72658141 rs72658143 rs72658145 rs72658147 rs72658148 rs72658155 rs66883877 rs66883877 rs409108 rs72658163 rs72658167 rs72658171 rs72658172 rs72658173 rs72658174 rs408535 rs72658176 rs72658177 rs72658183 rs72658186 rs66592844 rs72658187 rs72658188 rs66716547 rs72658191 rs1800240 rs72658193 rs72658201 rs72659304 rs72659305 rs72659312 rs66507857 rs67609234 rs67422093 rs72659316 rs72659317 rs1114167414 rs72659319 rs392609 rs72659323 rs72659331 rs530026906 rs72659335 rs72659337 rs67768540 rs1800250 rs422361 rs72659342 rs384487 rs418570 


uniprotID: Q9BX70
geneSymbol: BTBD2
pdb: 3NO8;
name: BTB/POZ domain-containing protein 2
length: 525
go: ENSG00000133243;
opentargets: cytosol [GO:0005829]; P-body [GO:0000932]; neurogenesis [GO:0022008]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BX70-1; Sequence=Displayed; Name=2; IsoId=Q9BX70-2; Sequence=VSP_010562; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12878161}. Note=Localizes to punctate or elongated cytoplasmic bodies. {ECO:0000269|PubMed:12878161}.


uniprotID: Q9Y2F9
geneSymbol: BTBD3
name: BTB/POZ domain-containing protein 3
length: 522
go: ENSG00000132640;
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; cerebral cortex development [GO:0021987]; dendrite morphogenesis [GO:0048813]; neurogenesis [GO:0022008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2F9-1; Sequence=Displayed; Name=2; IsoId=Q9Y2F9-2; Sequence=VSP_041215; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Nucleus {ECO:0000250}. Note=Translocates from the cytosol to the nucleus in response to neuronal activity. {ECO:0000250}.


uniprotID: Q96KE9
geneSymbol: BTBD6
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 2VKP;
name: BTB/POZ domain-containing protein 6 (Lens BTB domain protein)
length: 485
go: ENSG00000184887;
sequence:

opentargets:
cytosol [GO:0005829]; neurogenesis [GO:0022008]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96KE9-1; Sequence=Displayed; Name=2; IsoId=Q96KE9-2; Sequence=VSP_037792; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q2LE78}. Note=Found in punctated bodies in the cytoplasm. {ECO:0000250|UniProtKB:Q2LE78}.


uniprotID: P02458
geneSymbol: COL2A1
pdb: 1U5M;2FSE;2SEB;5NIR;6BIN;
length: 1487
go: ENSG00000139219;
drug: DB00048;
reactome:
R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-186797;R-HSA-198933;R-HSA-2022090;R-HSA-216083;R-HSA-3000171;R-HSA-3000178;R-HSA-419037;R-HSA-8874081;R-HSA-8948216;

name:
Collagen alpha-1(II) chain (Alpha-1 type II collagen) [Cleaved into: Collagen alpha-1(II) chain; Chondrocalcin]

sequence:

opentargets:
basement membrane [GO:0005604]; collagen trimer [GO:0005581]; collagen type II trimer [GO:0005585]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; MHC class II protein binding [GO:0042289]; platelet-derived growth factor binding [GO:0048407]; anterior head development [GO:0097065]; cartilage condensation [GO:0001502]; cartilage development [GO:0051216]; cartilage development involved in endochondral bone morphogenesis [GO:0060351]; cellular response to BMP stimulus [GO:0071773]; central nervous system development [GO:0007417]; chondrocyte differentiation [GO:0002062]; collagen fibril organization [GO:0030199]; embryonic skeletal joint morphogenesis [GO:0060272]; endochondral ossification [GO:0001958]; extracellular matrix organization [GO:0030198]; heart morphogenesis [GO:0003007]; inner ear morphogenesis [GO:0042472]; limb bud formation [GO:0060174]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; notochord development [GO:0030903]; otic vesicle development [GO:0071599]; proteoglycan metabolic process [GO:0006029]; regulation of gene expression [GO:0010468]; regulation of immune response [GO:0050776]; roof of mouth development [GO:0060021]; sensory perception of sound [GO:0007605]; skeletal system development [GO:0001501]; tissue homeostasis [GO:0001894]; visual perception [GO:0007601]

snps:
rs3803183 rs121912898 rs34392760 rs1050861 rs869312907 rs121912872 rs121912876 rs121912877 rs121912894 rs121912871 rs794727339 rs121912881 rs121912880 rs121912888 rs121912884 rs41263847 rs121912885 rs387906558 rs121912865 rs121912867 rs1193507525 rs121912879 rs121912882 rs121912875 rs121912878 rs121912874 rs121912895 rs753342774 rs41272041 rs121912868 rs121912891 rs121912883 rs121912870 rs121912887 rs12721427 rs138498898 rs121912889 rs2070739 rs121912886 rs148838496 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=P02458-2; Sequence=Displayed; Name=1; IsoId=P02458-1; Sequence=VSP_022366; Name=3; IsoId=P02458-3; Sequence=VSP_022365; Note=No experimental confirmation available.; 


uniprotID: Q32M84
geneSymbol: BTBD16
name: BTB/POZ domain-containing protein 16
length: 506
go: ENSG00000138152;
snps: rs2421013 rs986178 rs1048347 rs10510108
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q32M84-1; Sequence=Displayed; Name=2; IsoId=Q32M84-2; Sequence=VSP_019929; Note=No experimental confirmation available.; 


uniprotID: B2RXH4
geneSymbol: BTBD18
name: BTB/POZ domain-containing protein 18
length: 712
go: ENSG00000233436;
snps: rs78162678 rs201912857
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:A0A0A6YY25}.
sequence:

opentargets:
nucleus [GO:0005634]; cell differentiation [GO:0030154]; male meiosis I [GO:0007141]; negative regulation of transposition [GO:0010529]; piRNA biosynthetic process [GO:1990511]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; spermatogenesis [GO:0007283]


uniprotID: P06681
geneSymbol: C2
reactome: R-HSA-166663;R-HSA-174577;R-HSA-977606;
pdb: 2I6Q;2I6S;2ODP;2ODQ;3ERB;
length: 752
go: ENSG00000166278;
snps: rs760744400 rs28934590 rs9332739 rs151340617 rs1042664 rs4151648
location: SUBCELLULAR LOCATION: Secreted.
name:
Complement C2 (EC 3.4.21.43) (C3/C5 convertase) [Cleaved into: Complement C2b fragment; Complement C2a fragment]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; metal ion binding [GO:0046872]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; positive regulation of apoptotic cell clearance [GO:2000427]; regulation of complement activation [GO:0030449]; response to nutrient [GO:0007584]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P06681-1; Sequence=Displayed; Name=2; IsoId=P06681-2; Sequence=VSP_043038, VSP_043039; Note=No experimental confirmation available.; Name=3; IsoId=P06681-3; Sequence=VSP_046103; Note=No experimental confirmation available.; 


uniprotID: P35070
geneSymbol: BTC
pdb: 1IOX;1IP0;
name: Probetacellulin [Cleaved into: Betacellulin (BTC)]
length: 178
go: ENSG00000174808;
snps: rs28549760 rs56320257 rs11938093
sequence:
MDRAARCSGASSLPLLLALALGLVILHCVVADGNSTRSPETNGLLCGDPEENCAATTTQSKRKGHFSRCPKQYKHYCIKGRCRFVVAEQTPSCVCDEGYIGARCERVDLFYLRGDRGQILVICLIAVMVVFIILVIGVCTCCHPLRKRRKRKKKEEEMETLGKDITPINEDIEETNIA

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; epidermal growth factor receptor binding [GO:0005154]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of urine volume [GO:0035810]; regulation of cell motility [GO:2000145]

location:
SUBCELLULAR LOCATION: Betacellulin: Secreted, extracellular space.; SUBCELLULAR LOCATION: Probetacellulin: Cell membrane; Single-pass type I membrane protein.


uniprotID: P02461
geneSymbol: COL3A1
pdb: 2V53;3DMW;4AE2;4AEJ;4AK3;4GYX;6FZV;6FZW;
name: Collagen alpha-1(III) chain
length: 1466
go: ENSG00000168542;
drug: DB00048;
reactome:
R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-186797;R-HSA-198933;R-HSA-2022090;R-HSA-216083;R-HSA-3000170;R-HSA-3000171;R-HSA-3000178;R-HSA-3000480;R-HSA-419037;R-HSA-8874081;R-HSA-8948216;

sequence:

opentargets:
collagen type III trimer [GO:0005586]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; integrin binding [GO:0005178]; metal ion binding [GO:0046872]; platelet-derived growth factor binding [GO:0048407]; protease binding [GO:0002020]; SMAD binding [GO:0046332]; aorta smooth muscle tissue morphogenesis [GO:0060414]; cell-matrix adhesion [GO:0007160]; cellular response to amino acid stimulus [GO:0071230]; cerebral cortex development [GO:0021987]; collagen fibril organization [GO:0030199]; digestive tract development [GO:0048565]; extracellular matrix organization [GO:0030198]; heart development [GO:0007507]; integrin-mediated signaling pathway [GO:0007229]; negative regulation of immune response [GO:0050777]; negative regulation of neuron migration [GO:2001223]; peptide cross-linking [GO:0018149]; platelet activation [GO:0030168]; positive regulation of Rho protein signal transduction [GO:0035025]; regulation of immune response [GO:0050776]; response to cytokine [GO:0034097]; response to mechanical stimulus [GO:0009612]; response to radiation [GO:0009314]; skeletal system development [GO:0001501]; skin development [GO:0043588]; supramolecular fiber organization [GO:0097435]; transforming growth factor beta receptor signaling pathway [GO:0007179]; wound healing [GO:0042060]

snps:
rs111391222 rs121912926 rs587779420 rs121912926 rs587779710 rs587779436 rs587779626 rs587779711 rs587779624 rs587779533 rs587779555 rs587779468 rs587779629 rs121912927 rs121912927 rs587779464 rs587779705 rs587779464 rs587779605 rs587779427 rs121912919 rs587779588 rs587779419 rs587779637 rs587779692 rs587779489 rs587779476 rs587779523 rs41263744 rs587779584 rs587779679 rs121912928 rs121912923 rs587779691 rs35795890 rs587779522 rs587779699 rs587779493 rs121912921 rs1801183 rs41263773 rs41263775 rs1800255 rs587779668 rs587779638 rs121912925 rs587779615 rs587779697 rs113485686 rs121912920 rs587779486 rs587779690 rs587779645 rs587779622 rs587779599 rs587779505 rs587779483 rs587779662 rs587779471 rs587779566 rs112978464 rs587779517 rs121912913 rs121912922 rs587779571 rs587779559 rs587779576 rs587779548 rs587779552 rs121912916 rs587779428 rs587779704 rs121912914 rs121912914 rs587779709 rs121912915 rs587779672 rs587779614 rs121912924 rs587779473 rs587779431 rs587779553 rs587779578 rs587779465 rs587779465 rs121912918 rs587779521 rs587779574 rs111505097 rs121912917 rs121912917 rs112456072 rs587779504 rs2271683 rs1516446 rs747324731 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P02461-1; Sequence=Displayed; Name=2; IsoId=P02461-2; Sequence=VSP_022502; Note=No experimental confirmation available.; 


uniprotID: P62324
geneSymbol: BTG1
name: Protein BTG1 (B-cell translocation gene 1 protein)
length: 171
go: ENSG00000133639;
snps: rs28399541 rs28399542
sequence:
MHPFYTRAATMIGEIAAAVSFISKFLRTKGLTSERQLQTFSQSLQELLAEHYKHHWFPEKPCKGSGYRCIRINHKMDPLIGQAAQRIGLSSQELFRLLPSELTLWVDPYEVSYRIGEDGSICVLYEASPAGGSTQNSTNVQMVDSRISCKEELLLGRTSPSKNYNMMTVSG

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; enzyme binding [GO:0019899]; kinase binding [GO:0019900]; transcription coregulator activity [GO:0003712]; cell migration [GO:0016477]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of mitotic cell cycle [GO:0045930]; positive regulation of angiogenesis [GO:0045766]; positive regulation of endothelial cell differentiation [GO:0045603]; positive regulation of fibroblast apoptotic process [GO:2000271]; positive regulation of myoblast differentiation [GO:0045663]; regulation of transcription, DNA-templated [GO:0006355]; response to oxidative stress [GO:0006979]; response to peptide hormone [GO:0043434]; spermatogenesis [GO:0007283]


uniprotID: P78543
geneSymbol: BTG2
reactome: R-HSA-6804115;
pdb: 3DJU;3E9V;
name: Protein BTG2 (BTG family member 2) (NGF-inducible anti-proliferative protein PC3)
length: 158
go: ENSG00000159388;
snps: rs12039961
sequence:
MSHGKGTDMLPEIAAAVGFLSSLLRTRGCVSEQRLKVFSGALQEALTEHYKHHWFPEKPSKGSGYRCIRINHKMDPIISRVASQIGLSQPQLHQLLPSELTLWVDPYEVSYRIGEDGSICVLYEEAPLAASCGLLTCKNQVLLGRSSPSKNYVMAVSS

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; anterior/posterior pattern specification [GO:0009952]; associative learning [GO:0008306]; cellular response to DNA damage stimulus [GO:0006974]; central nervous system neuron development [GO:0021954]; dentate gyrus development [GO:0021542]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; DNA repair [GO:0006281]; negative regulation of cell proliferation [GO:0008285]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of neural precursor cell proliferation [GO:2000178]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of translation [GO:0017148]; neuron projection development [GO:0031175]; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening [GO:0060213]; protein methylation [GO:0006479]; response to electrical stimulus [GO:0051602]; response to mechanical stimulus [GO:0009612]; response to organic cyclic compound [GO:0014070]; response to peptide hormone [GO:0043434]; skeletal muscle cell differentiation [GO:0035914]


uniprotID: P02462
geneSymbol: COL4A1
pdb: 1LI1;5NAX;5NAY;
name: Collagen alpha-1(IV) chain [Cleaved into: Arresten]
length: 1669
go: ENSG00000187498;
reactome:
R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-186797;R-HSA-2022090;R-HSA-216083;R-HSA-2214320;R-HSA-2243919;R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-3000480;R-HSA-419037;R-HSA-8948216;

sequence:

opentargets:
basement membrane [GO:0005604]; collagen type IV trimer [GO:0005587]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; platelet-derived growth factor binding [GO:0048407]; basement membrane organization [GO:0071711]; blood vessel morphogenesis [GO:0048514]; brain development [GO:0007420]; branching involved in blood vessel morphogenesis [GO:0001569]; cellular response to amino acid stimulus [GO:0071230]; collagen-activated tyrosine kinase receptor signaling pathway [GO:0038063]; epithelial cell differentiation [GO:0030855]; extracellular matrix organization [GO:0030198]; neuromuscular junction development [GO:0007528]; renal tubule morphogenesis [GO:0061333]; retinal blood vessel morphogenesis [GO:0061304]

snps:
rs9515185 rs34843786 rs267606744 rs113994104 rs267606743 rs113994106 rs397514624 rs536174 rs672601349 rs113994108 rs672601346 rs672601347 rs113994110 rs113994111 rs113994112 rs587777379 rs3742207 rs1343193102 rs113994114 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P02462-1; Sequence=Displayed; Name=2; IsoId=P02462-2; Sequence=VSP_059564, VSP_059565; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250|UniProtKB:P02463}.


uniprotID: P08572
geneSymbol: COL4A2
pdb: 1LI1;5NAX;5NB2;
name: Collagen alpha-2(IV) chain [Cleaved into: Canstatin]
length: 1712
go: ENSG00000134871;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
reactome:
R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-186797;R-HSA-2022090;R-HSA-216083;R-HSA-2214320;R-HSA-2243919;R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-3000480;R-HSA-419037;R-HSA-8948216;

sequence:

opentargets:
collagen type IV trimer [GO:0005587]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; aging [GO:0007568]; angiogenesis [GO:0001525]; cellular response to transforming growth factor beta stimulus [GO:0071560]; collagen-activated tyrosine kinase receptor signaling pathway [GO:0038063]; endodermal cell differentiation [GO:0035987]; extracellular matrix organization [GO:0030198]; negative regulation of angiogenesis [GO:0016525]; response to activity [GO:0014823]; transcription, DNA-templated [GO:0006351]

snps:
rs62621885 rs7990383 rs3803230 rs78829338 rs9583500 rs387906603 rs184812559 rs117412802 rs62621875 rs387906602 rs45520539 rs201105747 


uniprotID: Q01955
geneSymbol: COL4A3
pdb: 5NB0;
name: Collagen alpha-3(IV) chain (Goodpasture antigen) [Cleaved into: Tumstatin]
length: 1670
go: ENSG00000169031;
reactome:
R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-186797;R-HSA-2022090;R-HSA-216083;R-HSA-2214320;R-HSA-2243919;R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-419037;R-HSA-8948216;

sequence:

opentargets:
basement membrane [GO:0005604]; collagen type IV trimer [GO:0005587]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; integrin binding [GO:0005178]; metalloendopeptidase inhibitor activity [GO:0008191]; structural molecule activity [GO:0005198]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; blood circulation [GO:0008015]; cell adhesion [GO:0007155]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; collagen-activated tyrosine kinase receptor signaling pathway [GO:0038063]; endothelial cell apoptotic process [GO:0072577]; extracellular matrix organization [GO:0030198]; glomerular basement membrane development [GO:0032836]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cell proliferation [GO:0008285]; response to glucose [GO:0009749]; sensory perception of sound [GO:0007605]

snps:
rs13424243 rs10178458 rs6436669 rs55703767 rs34505188 rs11677877 rs371405814 rs28381984 rs200672668 rs375040636 rs56226424 rs763726708 rs121912827 rs121912826 rs267606745 rs200443942 rs57611801 rs190598500 rs767033956 rs375290088 rs73996414 rs200302125 rs77964815 rs201697532 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=The majority of isoforms differ in the C-terminal part of the NC1 domain.; Name=1; Synonyms=GP; IsoId=Q01955-1; Sequence=Displayed; Name=2; Synonyms=V, GP-V; IsoId=Q01955-2; Sequence=VSP_001170; Name=3; Synonyms=L5, GP-III, GP-III/V; IsoId=Q01955-3; Sequence=VSP_001171; Name=4; Synonyms=GP-III/IV/V; IsoId=Q01955-4; Sequence=VSP_023500; Name=5; Synonyms=GP-II/III/IV/V; IsoId=Q01955-5; Sequence=VSP_023498, VSP_023499; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Colocalizes with COL4A4 and COL4A5 in GBM, tubular basement membrane (TBM) and synaptic basal lamina (BL). {ECO:0000250}.


uniprotID: P53420
geneSymbol: COL4A4
pdb: 5NB1;
name: Collagen alpha-4(IV) chain
length: 1690
go: ENSG00000081052;
reactome:
R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-186797;R-HSA-2022090;R-HSA-216083;R-HSA-2214320;R-HSA-2243919;R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-419037;R-HSA-8948216;

sequence:

opentargets:
basement membrane [GO:0005604]; collagen type IV trimer [GO:0005587]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; angiogenesis [GO:0001525]; endothelial cell morphogenesis [GO:0001886]; extracellular matrix organization [GO:0030198]; glomerular basement membrane development [GO:0032836]

snps:
rs16823264 rs2229814 rs1800516 rs35998949 rs34236495 rs36121515 rs121912860 rs75875272 rs769783985 rs13027659 rs1800517 rs121912858 rs2229813 rs3752895 rs121912863 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000255|PROSITE-ProRule:PRU00736}. Note=Colocalizes with COL4A4 and COL4A5 in GBM, tubular basement membrane (TBM) and synaptic basal lamina (BL). {ECO:0000250}.


uniprotID: P29400
geneSymbol: COL4A5
pdb: 5NAZ;
name: Collagen alpha-5(IV) chain
length: 1685
go: ENSG00000188153;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
reactome:
R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-186797;R-HSA-2022090;R-HSA-216083;R-HSA-2214320;R-HSA-2243919;R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-419037;R-HSA-8948216;R-HSA-9010553;

sequence:

opentargets:
collagen type IV trimer [GO:0005587]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; neuromuscular junction [GO:0031594]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; collagen-activated tyrosine kinase receptor signaling pathway [GO:0038063]; extracellular matrix organization [GO:0030198]; neuromuscular junction development [GO:0007528]

snps:
rs104886043 rs281874723 rs281874723 rs104886055 rs104886056 rs104886056 rs104886060 rs104886063 rs104886067 rs104886075 rs104886076 rs104886068 rs104886069 rs104886450 rs104886073 rs104886078 rs104886079 rs104886080 rs104886085 rs104886091 rs104886088 rs104886092 rs104886096 rs104886097 rs104886108 rs104886105 rs104886107 rs104886100 rs104886101 rs104886102 rs104886103 rs281874663 rs104886110 rs142883891 rs2272946 rs104886114 rs104886116 rs104886117 rs104886118 rs104886120 rs104886121 rs104886121 rs104886119 rs104886126 rs104886127 rs104886129 rs104886136 rs104886137 rs104886138 rs104886130 rs104886139 rs104886133 rs104886135 rs104886140 rs104886141 rs104886142 rs104886144 rs104886145 rs104886146 rs281874683 rs104886134 rs104886147 rs104886134 rs104886150 rs34077552 rs104886151 rs104886158 rs104886160 rs104886168 rs104886163 rs104886164 rs104886164 rs104886165 rs104886166 rs104886173 rs104886177 rs104886179 rs104886180 rs104886183 rs104886184 rs104886187 rs104886186 rs104886188 rs104886189 rs104886190 rs104886192 rs104886363 rs104886196 rs104886370 rs78972735 rs104886202 rs104886211 rs104886210 rs104886212 rs104886214 rs104886215 rs104886219 rs104886219 rs104886232 rs104886224 rs104886225 rs104886229 rs104886228 rs104886235 rs104886236 rs104886237 rs104886242 rs104886244 rs104886245 rs104886247 rs104886246 rs104886251 rs104886253 rs104886255 rs104886261 rs104886262 rs104886264 rs104886257 rs104886266 rs104886267 rs104886269 rs104886270 rs104886272 rs144282156 rs104886274 rs104886277 rs104886280 rs104886282 rs104886283 rs104886284 rs104886285 rs201220208 rs104886293 rs104886295 rs281874743 rs104886287 rs104886288 rs104886297 rs104886303 rs104886308 rs104886308 rs104886311 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P29400-1; Sequence=Displayed; Name=2; IsoId=P29400-2; Sequence=VSP_001173; Note=Contains 2 extra G-X-X repeats into the triple-helix domain.; 


uniprotID: P07360
geneSymbol: C8G
reactome: R-HSA-166665;R-HSA-977606;
pdb: 1IW2;1LF7;2OVA;2OVD;2OVE;2QOS;2RD7;3OJY;
name: Complement component C8 gamma chain
length: 202
go: ENSG00000176919;
drug: DB04272;DB03017;
snps: rs17614 rs7850844 rs17613
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane attack complex [GO:0005579]; retinol binding [GO:0019841]; complement activation, alternative pathway [GO:0006957]; complement activation, classical pathway [GO:0006958]; cytolysis [GO:0019835]; regulation of complement activation [GO:0030449]


uniprotID: P20849
geneSymbol: COL9A1
pdb: 2UUR;5CTD;5CTI;5CVA;5CVB;
name: Collagen alpha-1(IX) chain
length: 921
go: ENSG00000112280;
snps: rs592121 rs1135056 rs35470562 rs6910140 rs1056921 rs1056923
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
collagen type IX trimer [GO:0005594]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; metal ion binding [GO:0046872]; animal organ morphogenesis [GO:0009887]; extracellular matrix organization [GO:0030198]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Long; IsoId=P20849-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P20849-2; Sequence=VSP_001141, VSP_001142; Name=3; IsoId=P20849-3; Sequence=VSP_015250, VSP_015251; Note=No experimental confirmation available.; 


uniprotID: P02748
geneSymbol: C9
reactome: R-HSA-166665;R-HSA-977606;
pdb: 5FMW;6DLW;
name: Complement component C9 [Cleaved into: Complement component C9a; Complement component C9b]
length: 559
go: ENSG00000113600;
snps: rs700233 rs121909593 rs696763 rs34882957 rs13361416 rs34625111 rs34421659
sequence:

opentargets:
blood microparticle [GO:0072562]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; membrane attack complex [GO:0005579]; other organism cell membrane [GO:0044218]; plasma membrane [GO:0005886]; cell killing [GO:0001906]; complement activation, alternative pathway [GO:0006957]; complement activation, classical pathway [GO:0006958]; hemolysis by symbiont of host erythrocytes [GO:0019836]; protein homooligomerization [GO:0051260]; regulation of complement activation [GO:0030449]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:22832194, ECO:0000269|PubMed:26841934, ECO:0000269|PubMed:9212048, ECO:0000269|PubMed:9634479}. Target cell membrane {ECO:0000269|PubMed:26841934, ECO:0000269|PubMed:9212048}; Multi-pass membrane protein {ECO:0000269|PubMed:26841934}. Note=Secreted as soluble monomer. Oligomerizes at target membranes, forming a pre-pore. A conformation change then leads to the formation of a 100 Angstrom diameter pore. {ECO:0000269|PubMed:26841934, ECO:0000269|PubMed:4055801, ECO:0000269|PubMed:9634479}.


uniprotID: Q9GZY4
geneSymbol: COA1
length: 146
go: ENSG00000106603;
name:
Cytochrome c oxidase assembly factor 1 homolog (Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa)

sequence:
MMWQKYAGSRRSMPLGARILFHGVFYAGGFAIVYYLIQKFHSRALYYKLAVEQLQSHPEAQEALGPPLNIHYLKLIDRENFVDIVDAKLKIPVSGSKSEGLLYVHSSRGGPFQRWHLDEVFLELKDGQQIPVFKLSGENGDEVKKE

opentargets:
cytosol [GO:0005829]; integral component of mitochondrial inner membrane [GO:0031305]; mitochondrion [GO:0005739]; mitochondrial respiratory chain complex I assembly [GO:0032981]; mitochondrial respiratory chain complex IV assembly [GO:0033617]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:22356826, ECO:0000269|PubMed:23260140}; Single-pass membrane protein {ECO:0000269|PubMed:22356826, ECO:0000269|PubMed:23260140}.


uniprotID: Q6UX41
geneSymbol: BTNL8
reactome: R-HSA-8851680;
name: Butyrophilin-like protein 8
length: 500
go: ENSG00000113303;
snps: rs2276995 rs7724813 rs146303629 rs7703365 rs113820381
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; adaptive immune response [GO:0002250]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=BTN-like; IsoId=Q6UX41-1; Sequence=Displayed; Name=2; IsoId=Q6UX41-2; Sequence=VSP_012718, VSP_012719; Note=No experimental confirmation available.; Name=3; IsoId=Q6UX41-3; Sequence=VSP_045472; Note=No experimental confirmation available.; Name=4; IsoId=Q6UX41-4; Sequence=VSP_045471; Note=No experimental confirmation available.; Name=5; Synonyms=B7-like; IsoId=Q6UX41-5; Sequence=VSP_045781, VSP_012719; Name=6; IsoId=Q6UX41-6; Sequence=VSP_046069; Note=No experimental confirmation available.; Name=7; IsoId=Q6UX41-7; Sequence=VSP_046067, VSP_046068; Note=No experimental confirmation available.; 


uniprotID: Q6UXG8
geneSymbol: BTNL9
reactome: R-HSA-8851680;
name: Butyrophilin-like protein 9
length: 535
go: ENSG00000165810;
snps: rs10068763
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UXG8-1; Sequence=Displayed; Name=2; IsoId=Q6UXG8-2; Sequence=VSP_012720, VSP_012721; Note=No experimental confirmation available.; Name=3; IsoId=Q6UXG8-3; Sequence=VSP_012722, VSP_012723; Note=No experimental confirmation available.; 


uniprotID: O43709
geneSymbol: BUD23
reactome: R-HSA-6790901;R-HSA-6791226;
pdb: 6G4W;
length: 281
go: ENSG00000071462;
name:
Probable 18S rRNA (guanine-N(7))-methyltransferase (EC 2.1.1.-) (Bud site selection protein 23 homolog) (Metastasis-related methyltransferase 1) (Williams-Beuren syndrome chromosomal region 22 protein) (rRNA methyltransferase and ribosome maturation factor)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; methyltransferase activity [GO:0008168]; protein heterodimerization activity [GO:0046982]; RNA binding [GO:0003723]; rRNA (guanine) methyltransferase activity [GO:0016435]; chromatin organization [GO:0006325]; positive regulation of rRNA processing [GO:2000234]; rRNA (guanine-N7)-methylation [GO:0070476]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43709-1; Sequence=Displayed; Name=2; IsoId=O43709-2; Sequence=VSP_011511; Note=No experimental confirmation available.; Name=3; IsoId=O43709-3; Sequence=VSP_054762; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24086612, ECO:0000269|PubMed:24488492}. Nucleus, nucleoplasm {ECO:0000269|PubMed:25851604}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:25851604}. Cytoplasm {ECO:0000269|PubMed:24488492}. Note=Localized diffusely throughout the nucleus and the cytoplasm (PubMed:24488492). Localizes to a polarized perinuclear structure, overlapping partially with the Golgi and lysosomes (PubMed:25851604). Localization is not affected by glucocorticoid treatment (PubMed:24488492). {ECO:0000269|PubMed:24488492, ECO:0000269|PubMed:25851604}.


uniprotID: P41223
geneSymbol: BUD31
reactome: R-HSA-72163;
pdb: 4OED;4OH6;4OKB;5MQF;5XJC;5YZG;5Z56;5Z57;6FF4;
name: Protein BUD31 homolog (Protein EDG-2) (Protein G10 homolog)
length: 144
go: ENSG00000106245;
sequence:
MPKVKRSRKAPPDGWELIEPTLDELDQKMREAETEPHEGKRKVESLWPIFRIHHQKTRYIFDLFYKRKAISRELYEYCIKEGYADKNLIAKWKKQGYENLCCLRCIQTRDTNFGTNCICRVPKSKLEVGRIIECTHCGCRGCSG

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U2-type catalytic step 2 spliceosome [GO:0071007]; DNA-binding transcription factor activity [GO:0003700]; nuclear hormone receptor binding [GO:0035257]; nuclear receptor transcription coactivator activity [GO:0030374]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of androgen receptor activity [GO:2000825]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P41223-1; Sequence=Displayed; Name=2; IsoId=P41223-2; Sequence=VSP_055558; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25091737, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}. Note=Detected in chromatin at the promoter of AR target genes. {ECO:0000305|PubMed:25091737}.


uniprotID: Q8N1D0
geneSymbol: SLC22A18AS
length: 253
go: ENSG00000254827;
snps: rs365605 rs441071
name:
Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein (Organic cation transporter-like protein 2 antisense protein) (Solute carrier family 22 member 1-like antisense protein) (Solute carrier family 22 member 18 antisense protein) (p27-Beckwith-Wiedemann region 1 B) (p27-BWR1B)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N1D0-1; Sequence=Displayed; Name=2; IsoId=Q8N1D0-2; Sequence=VSP_016499; Note=No experimental confirmation available.; 


uniprotID: O95971
geneSymbol: CD160
reactome: R-HSA-198933;
name: CD160 antigen (Natural killer cell receptor BY55) (CD antigen CD160)
length: 181
go: ENSG00000117281;
snps: rs2231373
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
sequence:
MLLEPGRGCCALAILLAIVDIQSGGCINITSSASQEGTRLNLICTVWHKKEEAEGFVVFLCKDRSGDCSPETSLKQLRLKRDPGIDGVGEISSQLMFTISQVTPLHSGTYQCCARSQKSGIRLQGHFFSILFTETGNYTVTGLKQRQHLEFSHNEGTLSSGFLQEKVWVMLVTSLVALQAL

opentargets:
anchored component of plasma membrane [GO:0046658]; plasma membrane [GO:0005886]; MHC class I receptor activity [GO:0032393]; signaling receptor activity [GO:0038023]; signaling receptor binding [GO:0005102]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; cellular defense response [GO:0006968]; defense response to Gram-negative bacterium [GO:0050829]; regulation of immune response [GO:0050776]


uniprotID: Q3MJ40
geneSymbol: CCDC144B
name: Coiled-coil domain-containing protein 144B
length: 725
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3MJ40-1; Sequence=Displayed; Name=2; IsoId=Q3MJ40-2; Sequence=VSP_029792, VSP_029793; Note=No experimental confirmation available.; 


