# annotation

uniprotID: Q9Y5K6
geneSymbol: CD2AP
reactome: R-HSA-373753;
pdb: 2FEI;2J6F;2J6K;2J6O;2J7I;3AA6;3LK4;3U23;4WCI;4X1V;
name: CD2-associated protein (Adapter protein CMS) (Cas ligand with multiple SH3 domains)
length: 639
go: ENSG00000198087;
snps: rs34069459
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; endocytic vesicle [GO:0030139]; extracellular exosome [GO:0070062]; filamentous actin [GO:0031941]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; protein C-terminus binding [GO:0008022]; protein-containing complex binding [GO:0044877]; SH3 domain binding [GO:0017124]; structural constituent of cytoskeleton [GO:0005200]; vascular endothelial growth factor receptor binding [GO:0005172]; actin filament organization [GO:0007015]; cell cycle [GO:0007049]; cell division [GO:0051301]; cell-cell adhesion [GO:0098609]; negative regulation of small GTPase mediated signal transduction [GO:0051058]; negative regulation of transforming growth factor beta1 production [GO:0032911]; positive regulation of protein localization to nucleus [GO:1900182]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein-containing complex assembly [GO:0065003]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of receptor-mediated endocytosis [GO:0048259]; signal transduction [GO:0007165]; substrate-dependent cell migration, cell extension [GO:0006930]; vesicle organization [GO:0016050]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15800069}. Cell projection, ruffle {ECO:0000269|PubMed:10339567}. Cell junction {ECO:0000269|PubMed:22891260}. Note=Colocalizes with F-actin and BCAR1/p130Cas in membrane ruffles (PubMed:10339567). Located at podocyte slit diaphragm between podocyte foot processes (By similarity). During late anaphase and telophase, concentrates in the vicinity of the midzone microtubules and in the midbody in late telophase (PubMed:15800069). {ECO:0000250|UniProtKB:Q9JLQ0, ECO:0000269|PubMed:10339567, ECO:0000269|PubMed:15800069}.


uniprotID: P07766
geneSymbol: CD3E
reactome: R-HSA-198933;R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-389948;
pdb: 1A81;1SY6;1XIW;2ROL;
length: 207
go: ENSG00000198851;
drug: DB00075;
name:
T-cell surface glycoprotein CD3 epsilon chain (T-cell surface antigen T3/Leu-4 epsilon chain) (CD antigen CD3e)

sequence:

opentargets:
alpha-beta T cell receptor complex [GO:0042105]; cell body [GO:0044297]; cell-cell junction [GO:0005911]; dendritic spine [GO:0043197]; external side of plasma membrane [GO:0009897]; immunological synapse [GO:0001772]; 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]; protein kinase binding [GO:0019901]; receptor signaling complex scaffold activity [GO:0030159]; SH3 domain binding [GO:0017124]; T cell receptor binding [GO:0042608]; transmembrane signaling receptor activity [GO:0004888]; adaptive immune response [GO:0002250]; apoptotic signaling pathway [GO:0097190]; cell surface receptor signaling pathway [GO:0007166]; cerebellum development [GO:0021549]; dendrite development [GO:0016358]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of gene expression [GO:0010629]; negative regulation of smoothened signaling pathway [GO:0045879]; negative thymic T cell selection [GO:0045060]; positive regulation of alpha-beta T cell proliferation [GO:0046641]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of cell-cell adhesion mediated by integrin [GO:0033634]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of gene expression [GO:0010628]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of T cell anergy [GO:0002669]; positive regulation of T cell proliferation [GO:0042102]; positive thymic T cell selection [GO:0045059]; protein homooligomerization [GO:0051260]; protein-containing complex assembly [GO:0065003]; regulation of apoptotic process [GO:0042981]; regulation of immune response [GO:0050776]; response to nutrient [GO:0007584]; signal complex assembly [GO:0007172]; T cell activation [GO:0042110]; T cell costimulation [GO:0031295]; T cell differentiation [GO:0030217]; T cell receptor signaling pathway [GO:0050852]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10384095, ECO:0000269|PubMed:15294938}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: P60033
geneSymbol: CD81
reactome: R-HSA-198933;R-HSA-977606;
pdb: 1G8Q;1IV5;2AVZ;3X0E;5DFV;5DFW;5M2C;5M33;5M3D;5M3T;5M4R;5TCX;6EJG;6EJM;6EK2;
length: 236
go: ENSG00000110651;
name:
CD81 antigen (26 kDa cell surface protein TAPA-1) (Target of the antiproliferative antibody 1) (Tetraspanin-28) (Tspan-28) (CD antigen CD81)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; immunological synapse [GO:0001772]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; integrin binding [GO:0005178]; MHC class II protein complex binding [GO:0023026]; transferrin receptor binding [GO:1990459]; virus receptor activity [GO:0001618]; activation of MAPK activity [GO:0000187]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; positive regulation of 1-phosphatidylinositol 4-kinase activity [GO:0043128]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cell proliferation [GO:0008284]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein catabolic process in the vacuole [GO:1904352]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein localization [GO:0008104]; protein localization to lysosome [GO:0061462]; receptor internalization [GO:0031623]; receptor-mediated virion attachment to host cell [GO:0046813]; regulation of cell motility [GO:2000145]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]; regulation of protein stability [GO:0031647]; viral entry into host cell [GO:0046718]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P35762}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000269|PubMed:20375010}; Multi-pass membrane protein {ECO:0000255}. Note=Associates with CLDN1 and the CLDN1-CD81 complex localizes to the basolateral cell membrane. {ECO:0000269|PubMed:20375010}.


uniprotID: Q9BS16
geneSymbol: CENPK
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
name: Centromere protein K (CENP-K) (Interphase centromere complex protein 37) (Protein AF-5alpha) (p33)
length: 269
go: ENSG00000123219;
sequence:

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

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore. Note=Localizes exclusively in the centromeres. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex.


uniprotID: Q8N1N5
geneSymbol: CRIPAK
name: Cysteine-rich PAK1 inhibitor (CRIPak)
length: 446
go: ENSG00000163945;
snps: rs13097 rs9328733 rs9328733 rs141796647
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; negative regulation of intracellular estrogen receptor signaling pathway [GO:0033147]; negative regulation of protein kinase activity [GO:0006469]; regulation of cytoskeleton organization [GO:0051493]; response to estrogen [GO:0043627]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16278681}. Membrane {ECO:0000269|PubMed:16278681}. Nucleus {ECO:0000269|PubMed:16278681}. Note=Translocated to the nuclear compartment upon hormonal treatment by estrogen.


uniprotID: P02741
geneSymbol: CRP
reactome: R-HSA-173623;
pdb: 1B09;1CRV;1GNH;1LJ7;3L2Y;3PVN;3PVO;
name: C-reactive protein [Cleaved into: C-reactive protein(1-205)]
length: 224
go: ENSG00000132693;
drug: DB05744;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; choline binding [GO:0033265]; complement component C1q binding [GO:0001849]; identical protein binding [GO:0042802]; low-density lipoprotein particle binding [GO:0030169]; low-density lipoprotein particle receptor binding [GO:0050750]; acute-phase response [GO:0006953]; complement activation, classical pathway [GO:0006958]; defense response to Gram-positive bacterium [GO:0050830]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; negative regulation of blood vessel diameter [GO:0097756]; negative regulation of lipid storage [GO:0010888]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; opsonization [GO:0008228]; positive regulation of gene expression [GO:0010628]; positive regulation of superoxide anion generation [GO:0032930]; regulation of interleukin-8 secretion [GO:2000482]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P02741-1; Sequence=Displayed; Name=2; IsoId=P02741-2; Sequence=VSP_004656; Note=No experimental confirmation available.; 


uniprotID: Q16740
geneSymbol: CLPP
pdb: 1TG6;6BBA;6H23;
name: ATP-dependent Clp protease proteolytic subunit, mitochondrial (EC 3.4.21.92) (Endopeptidase Clp)
length: 277
go: ENSG00000125656;
drug: DB04464;
snps: rs398123033 rs398123034
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:10525407}.
sequence:

opentargets:
endopeptidase Clp complex [GO:0009368]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; identical protein binding [GO:0042802]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; protein homooligomerization [GO:0051260]; proteolysis involved in cellular protein catabolic process [GO:0051603]


uniprotID: Q8WZ74
geneSymbol: CTTNBP2
name: Cortactin-binding protein 2 (CortBP2)
length: 1663
go: ENSG00000077063;
snps: rs10274022 rs62617115
sequence:

opentargets:
cell cortex [GO:0005938]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; postsynaptic actin cytoskeleton [GO:0098871]; synaptic vesicle [GO:0008021]; SH3 domain binding [GO:0017124]; brain development [GO:0007420]; regulation of modification of postsynaptic actin cytoskeleton [GO:1905274]

location:
SUBCELLULAR LOCATION: Cytoplasm, cell cortex {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Note=Remains associated with dendritic spines even after glutamate stimulation. {ECO:0000250}.


uniprotID: Q7Z7A3
geneSymbol: CTU1
reactome: R-HSA-6782315;
length: 348
go: ENSG00000142544;
snps: rs17855403
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Cytoplasmic tRNA 2-thiolation protein 1 (EC 2.7.7.-) (ATP-binding domain-containing protein 3) (Cancer-associated gene protein) (Cytoplasmic tRNA adenylyltransferase 1)

sequence:

opentargets:
cytosol [GO:0005829]; cytosolic tRNA wobble base thiouridylase complex [GO:0002144]; nucleotidyltransferase activity [GO:0016779]; tRNA binding [GO:0000049]; protein urmylation [GO:0032447]; tRNA thio-modification [GO:0034227]; tRNA wobble position uridine thiolation [GO:0002143]; tRNA wobble uridine modification [GO:0002098]


uniprotID: Q2VPK5
geneSymbol: CTU2
reactome: R-HSA-6782315;
name: Cytoplasmic tRNA 2-thiolation protein 2 (Cytosolic thiouridylase subunit 2)
length: 515
go: ENSG00000174177;
snps: rs2290895 rs11549837 rs4782321 rs8059048
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; protein-containing complex [GO:0032991]; nucleotidyltransferase activity [GO:0016779]; sulfurtransferase activity [GO:0016783]; tRNA binding [GO:0000049]; protein urmylation [GO:0032447]; tRNA thio-modification [GO:0034227]; tRNA wobble position uridine thiolation [GO:0002143]; tRNA wobble uridine modification [GO:0002098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2VPK5-1; Sequence=Displayed; Name=2; IsoId=Q2VPK5-3; Sequence=VSP_025950; Note=No experimental confirmation available.; Name=3; IsoId=Q2VPK5-5; Sequence=VSP_039378; Note=Incomplete sequence.; 


uniprotID: Q6XXX2
geneSymbol: LINC00114
name: Putative uncharacterized protein encoded by LINC00114
length: 140
snps: rs2836662 rs11908799 rs11908743 rs16996776
sequence:
MQTTWQPGCSYPTSWLSSQESFSKMRTGWRGAIPLRWRNRARNREKPHSPRAVSSPATHSLPPSNPCRLTPTLSSARPREGSCPSKCSCPGGNWSNTALSAELMWAEGRFSGGCLPVYMRQNINPGCQEQWEGEERSRWL


uniprotID: P58505
geneSymbol: C21orf58
name: Uncharacterized protein C21orf58
length: 322
go: ENSG00000160298;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P58505-1; Sequence=Displayed; Name=2; IsoId=P58505-2; Sequence=VSP_003827, VSP_003828; Name=3; IsoId=P58505-3; Sequence=VSP_057984; Note=No experimental confirmation available.; 


uniprotID: P59089
geneSymbol: LINC00205
name: Putative uncharacterized protein encoded by LINC00205
length: 165
sequence:
MTPARPPRFPDDGSWRAFLRQRPQATERRPRRERMFVKLLLEGKLPPTLNTPVSRHRQGSGHKPASPFYSQNRGLRTFFNDFRATECTGRPRLCFHSLRCGAFSPGAPCWGRFNRRPCLPPTVLRKDRPSLPQERPGWRSPGVGGSSELALSPPGLVSPQSGPWP


uniprotID: Q9UJ94
geneSymbol: LINC00527
name: Putative uncharacterized protein encoded by LINC00527
length: 153
sequence:
MEGCLRIEEALTLGGACLFAGLAFLWAAFAQHFSAADSPGTEFTPATTTSRLLHVLYVCSCSLVAEKDDFSSPHSHSLLLVSLPEPHFELSEGLRLAFRGSQSSDSIRYRRGGNEGVRPWRAGATGLPPTGKDISVSLAHELYSLLKQLQMSI


uniprotID: Q6ZN03
geneSymbol: LINC00322
name: Putative uncharacterized protein encoded by LINC00322
length: 302
snps: rs564352 rs2838262
sequence:


uniprotID: Q93034
geneSymbol: CUL5
reactome: R-HSA-180585;R-HSA-8863795;R-HSA-8951664;R-HSA-983168;
pdb: 3DPL;3DQV;4JGH;4N9F;
name: Cullin-5 (CUL-5) (Vasopressin-activated calcium-mobilizing receptor 1) (VACM-1)
length: 780
go: ENSG00000166266;
sequence:

opentargets:
Cul5-RING ubiquitin ligase complex [GO:0031466]; cullin-RING ubiquitin ligase complex [GO:0031461]; cytosol [GO:0005829]; calcium channel activity [GO:0005262]; signaling receptor activity [GO:0038023]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; cell cycle arrest [GO:0007050]; cell proliferation [GO:0008283]; ERBB2 signaling pathway [GO:0038128]; G1/S transition of mitotic cell cycle [GO:0000082]; intrinsic apoptotic signaling pathway [GO:0097193]; negative regulation of cell proliferation [GO:0008285]; post-translational protein modification [GO:0043687]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]


uniprotID: O60888
geneSymbol: CUTA
pdb: 1XK8;2ZFH;
length: 179
go: ENSG00000112514;
name:
Protein CutA (Acetylcholinesterase-associated protein) (Brain acetylcholinesterase putative membrane anchor)

sequence:
MSGGRAPAVLLGGVASLLLSFVWMPALLPVASRLLLLPRVLLTMASGSPPTQPSPASDSGSGYVPGSVSAAFVTCPNEKVAKEIARAVVEKRLAACVNLIPQITSIYEWKGKIEEDSEVLMMIKTQSSLVPALTDFVRSVHPYEVAEVIALPVEQGNFPYLQWVRQVTESVSDSITVLP

opentargets:
extracellular exosome [GO:0070062]; membrane [GO:0016020]; copper ion binding [GO:0005507]; enzyme binding [GO:0019899]; protein localization [GO:0008104]; response to metal ion [GO:0010038]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=B; IsoId=O60888-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=A; IsoId=O60888-2; Sequence=VSP_013225; Note=No experimental confirmation available.; Name=C; IsoId=O60888-3; Sequence=VSP_013226; 


uniprotID: Q9H9A5
geneSymbol: CNOT10
reactome: R-HSA-429947;R-HSA-6804115;
name: CCR4-NOT transcription complex subunit 10
length: 744
snps: rs11558687 rs17849684
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Nucleus {ECO:0000305}.
sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; gene silencing by RNA [GO:0031047]; mRNA catabolic process [GO:0006402]; negative regulation of translation [GO:0017148]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9H9A5-1; Sequence=Displayed; Name=2; IsoId=Q9H9A5-2; Sequence=VSP_030312; Name=3; IsoId=Q9H9A5-3; Sequence=VSP_030313; Name=4; IsoId=Q9H9A5-4; Sequence=VSP_030313, VSP_030314; Name=5; IsoId=Q9H9A5-5; Sequence=VSP_030311; Name=6; IsoId=Q9H9A5-6; Sequence=VSP_045557; Note=No experimental confirmation available.; 


uniprotID: Q6P9H4
geneSymbol: CNKSR3
length: 555
go: ENSG00000153721;
name:
Connector enhancer of kinase suppressor of ras 3 (Connector enhancer of KSR 3) (CNK homolog protein 3) (CNK3) (CNKSR family member 3) (Maguin-like protein)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; positive regulation of sodium ion transmembrane transporter activity [GO:2000651]; positive regulation of sodium ion transport [GO:0010765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=CNK3; IsoId=Q6P9H4-1; Sequence=Displayed; Name=CNK3-IPCEF1-1; Synonyms=CNK3/IPCEF1 Long-1; IsoId=G9CGD6-1; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an CNK3/IPCEF1 fusion protein. {ECO:0000269|PubMed:22085542}; Name=CNK3-IPCEF1-2; Synonyms=CNK3/IPCEF1 Long-2; IsoId=G9CGD6-2; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an CNK3/IPCEF1 fusion protein. {ECO:0000269|PubMed:22085542}; Name=CNK3-IPCEF1-3; Synonyms=CNK3/IPCEF1 Short; IsoId=G9CGD6-3; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an CNK3/IPCEF1 fusion protein. Major isoform found in CaCo2-cells. {ECO:0000269|PubMed:22085542}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22851176}. Apical cell membrane {ECO:0000269|PubMed:22851176}; Peripheral membrane protein {ECO:0000269|PubMed:22851176}.


uniprotID: Q9UKZ1
geneSymbol: CNOT11
reactome: R-HSA-429947;R-HSA-6804115;
name: CCR4-NOT transcription complex subunit 11
length: 510
go: ENSG00000158435;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Nucleus {ECO:0000305}.
sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; cytosol [GO:0005829]; nucleus [GO:0005634]; cell proliferation [GO:0008283]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; gene silencing by RNA [GO:0031047]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; regulation of translation [GO:0006417]


uniprotID: Q14028
geneSymbol: CNGB1
reactome: R-HSA-2485179;R-HSA-2514859;R-HSA-5620916;
length: 1251
go: ENSG00000070729;
snps: rs13336595 rs2303783 rs12927214 rs376270 rs10459809 rs2303785 rs16942445 rs121918532
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Cyclic nucleotide-gated cation channel beta-1 (Cyclic nucleotide-gated cation channel 4) (CNG channel 4) (CNG-4) (CNG4) (Cyclic nucleotide-gated cation channel gamma) (Cyclic nucleotide-gated cation channel modulatory subunit) (Cyclic nucleotide-gated channel beta-1) (CNG channel beta-1) (Glutamic acid-rich protein) (GARP)

sequence:

opentargets:
ciliary membrane [GO:0060170]; Golgi membrane [GO:0000139]; Golgi-associated vesicle membrane [GO:0030660]; intracellular cyclic nucleotide activated cation channel complex [GO:0017071]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; terminal bouton [GO:0043195]; transmembrane transporter complex [GO:1902495]; cAMP binding [GO:0030552]; cGMP binding [GO:0030553]; intracellular cAMP-activated cation channel activity [GO:0005222]; intracellular cGMP-activated cation channel activity [GO:0005223]; ligand-gated ion channel activity [GO:0015276]; cation transport [GO:0006812]; detection of light stimulus involved in visual perception [GO:0050908]; photoreceptor cell maintenance [GO:0045494]; photoreceptor cell outer segment organization [GO:0035845]; protein heterotetramerization [GO:0051290]; protein localization to organelle [GO:0033365]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; retina homeostasis [GO:0001895]; rhodopsin mediated signaling pathway [GO:0016056]; sensory perception of smell [GO:0007608]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=There is no evidence for an ortholog to bovine GARP1 in the human genome.; Name=RCNC2B; IsoId=Q14028-1; Sequence=Displayed; Name=RCNC2A; IsoId=Q14028-2; Sequence=VSP_001110; Name=GARP2; Synonyms=GARP; IsoId=Q14028-3; Sequence=VSP_037921, VSP_037922; Note=In the rod cells, the CNGB1 locus encodes the cyclic nucleotide-gated cation channel beta-1 subunit and several glutamic-acid-rich proteins (GARPs).; Name=4; IsoId=Q14028-4; Sequence=VSP_053421; 


uniprotID: Q9NQW8
geneSymbol: CNGB3
length: 809
go: ENSG00000170289;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Cyclic nucleotide-gated cation channel beta-3 (Cone photoreceptor cGMP-gated channel subunit beta) (Cyclic nucleotide-gated cation channel modulatory subunit) (Cyclic nucleotide-gated channel beta-3) (CNG channel beta-3)

sequence:

opentargets:
photoreceptor outer segment [GO:0001750]; transmembrane transporter complex [GO:1902495]; cGMP binding [GO:0030553]; intracellular cAMP-activated cation channel activity [GO:0005222]; intracellular cGMP-activated cation channel activity [GO:0005223]; cation transport [GO:0006812]; signal transduction [GO:0007165]; visual perception [GO:0007601]

snps:
rs141098074 rs35807406 rs146688972 rs369138501 rs139207764 rs114305748 rs16916632 rs6471482 rs4961206 rs13265557 rs147876778 rs121918344 rs35010099 rs35365413 rs765884344 rs749413012 rs3735971 rs3735972 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQW8-1; Sequence=Displayed; Name=2; IsoId=Q9NQW8-2; Sequence=VSP_009742; Note=No experimental confirmation available.; 


uniprotID: Q8NE01
geneSymbol: CNNM3
pdb: 5K22;5K23;5K25;5TSR;
name: Metal transporter CNNM3 (Ancient conserved domain-containing protein 3) (Cyclin-M3)
length: 707
go: ENSG00000168763;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ion transport [GO:0006811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NE01-1; Sequence=Displayed; Name=2; IsoId=Q8NE01-2; Sequence=VSP_027082; Name=3; IsoId=Q8NE01-3; Sequence=VSP_027082, VSP_027083; Note=No experimental confirmation available.; 


uniprotID: Q8WYQ4
geneSymbol: C22orf15
name: Uncharacterized protein C22orf15 (Protein N27C7-3)
length: 148
go: ENSG00000169314;
sequence:
MFIKVMFGAGCSVLVNTSCRLVNLTAHLRQKAGLPPDATIALLAEDGNLVSLEEDLKEGASRAQTMGNSLLKERAIYVLVRIIKGEDMASTRYESLLENLDDHYPELAEELRRLSGLSSVGHNWRKRMGTRRGRHEQSPTSRPRKGPD

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WYQ4-1; Sequence=Displayed; Name=2; IsoId=Q8WYQ4-2; Sequence=VSP_014462, VSP_014463; 


uniprotID: Q9Y442
geneSymbol: C22orf24
name: Uncharacterized protein C22orf24
length: 160
opentargets: integral component of membrane [GO:0016021]
snps: rs1984388
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MTTQEDTTGLHQKTSLWTMSRPGAKKVMNSYFIAGCGPAVCYYAVSWLRQGFSINLTSFGRIPWPHAGVGTCPSPQSWISPFLQSHREHHYAKTSSHSQPSPQSLALCLAYSRCSINICQMTECISLASGCHQALREPGRSEESFWIPATPYISNIFSES

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y442-1; Sequence=Displayed; Name=2; IsoId=Q9Y442-2; Sequence=VSP_014604, VSP_014605; Note=No experimental confirmation available.; 


uniprotID: O95567
geneSymbol: C22orf31
name: Uncharacterized protein C22orf31
length: 290
go: ENSG00000100249;
snps: rs9625679 rs714136
sequence:


uniprotID: Q6P5X5
geneSymbol: C22orf39
name: UPF0545 protein C22orf39
length: 142
go: ENSG00000242259;
sequence:
MCRCSLVLLSVDHEVPFSSFFIGWRTEGRAWRAGRPDMADGSGWQPPRPCEAYRAEWKLCRSARHFLHHYYVHGERPACEQWQRDLASCRDWEERRNAEAQQSLCESERARVRAARKHILVWAPRQSPPPDWHLPLPQEKDE

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P5X5-1; Sequence=Displayed; Name=2; IsoId=Q6P5X5-2; Sequence=VSP_046502; 


uniprotID: Q9UIV1
geneSymbol: CNOT7
reactome: R-HSA-429947;R-HSA-6804115;
pdb: 2D5R;4GMJ;
length: 285
go: ENSG00000198791;
name:
CCR4-NOT transcription complex subunit 7 (EC 3.1.13.4) (BTG1-binding factor 1) (CCR4-associated factor 1) (CAF-1) (Caf1a)

sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; CCR4-NOT core complex [GO:0030015]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; host cell PML body [GO:0075341]; membrane [GO:0016020]; nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; P-body [GO:0000932]; 3'-5'-exoribonuclease activity [GO:0000175]; DNA-binding transcription factor activity [GO:0003700]; exoribonuclease activity [GO:0004532]; metal ion binding [GO:0046872]; poly(A)-specific ribonuclease activity [GO:0004535]; RNA binding [GO:0003723]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; carbohydrate metabolic process [GO:0005975]; cytoplasmic mRNA processing body assembly [GO:0033962]; deadenylation-dependent decapping of nuclear-transcribed mRNA [GO:0000290]; defense response to virus [GO:0051607]; 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]; gene silencing by RNA [GO:0031047]; negative regulation of cell proliferation [GO:0008285]; negative regulation of gene expression [GO:0010629]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of translation [GO:0017148]; negative regulation of type I interferon-mediated signaling pathway [GO:0060339]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; positive regulation of cell proliferation [GO:0008284]; 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]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of viral genome replication [GO:0045070]; regulation of tyrosine phosphorylation of STAT protein [GO:0042509]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UIV1-1; Sequence=Displayed; Name=2; IsoId=Q9UIV1-2; Sequence=VSP_045497; Note=No experimental confirmation available.; 

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


uniprotID: Q9UFF9
geneSymbol: CNOT8
reactome: R-HSA-429947;R-HSA-6804115;
length: 292
go: ENSG00000155508;
snps: rs1139980
name:
CCR4-NOT transcription complex subunit 8 (EC 3.1.13.4) (CAF1-like protein) (CALIFp) (CAF2) (CCR4-associated factor 8) (Caf1b)

sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; CCR4-NOT core complex [GO:0030015]; cytosol [GO:0005829]; intracellular [GO:0005622]; nucleus [GO:0005634]; P-body [GO:0000932]; 3'-5'-exoribonuclease activity [GO:0000175]; DNA-binding transcription factor activity [GO:0003700]; 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]; negative regulation of cell proliferation [GO:0008285]; negative regulation of translation [GO:0017148]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; positive regulation of cell proliferation [GO:0008284]; positive regulation of mRNA catabolic process [GO:0061014]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UFF9-1; Sequence=Displayed; Name=2; IsoId=Q9UFF9-2; Sequence=VSP_055527; Note=No experimental confirmation available.; Name=3; IsoId=Q9UFF9-3; Sequence=VSP_055528; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12771185}. Nucleus {ECO:0000269|PubMed:12771185}.


uniprotID: P12109
geneSymbol: COL6A1
name: Collagen alpha-1(VI) chain
length: 1028
go: ENSG00000142156;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
reactome:
R-HSA-1442490;R-HSA-1650814;R-HSA-186797;R-HSA-2022090;R-HSA-216083;R-HSA-3000178;R-HSA-419037;R-HSA-8948216;

sequence:

opentargets:
collagen type VI trimer [GO:0005589]; 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]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; protein-containing complex [GO:0032991]; sarcolemma [GO:0042383]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; platelet-derived growth factor binding [GO:0048407]; cell adhesion [GO:0007155]; cellular response to amino acid stimulus [GO:0071230]; endodermal cell differentiation [GO:0035987]; extracellular matrix organization [GO:0030198]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]; osteoblast differentiation [GO:0001649]; protein heterotrimerization [GO:0070208]

snps:
rs11553519 rs121912936 rs1064793840 rs201093313 rs267606746 rs121912938 rs121912939 rs11701912 rs121912935 rs121912935 rs35059000 rs751040647 rs1053312 rs150432347 rs13051496 


uniprotID: P12111
geneSymbol: COL6A3
pdb: 1KNT;1KTH;1KUN;2KNT;
name: Collagen alpha-3(VI) chain
length: 3177
go: ENSG00000163359;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
reactome:
R-HSA-1442490;R-HSA-1650814;R-HSA-186797;R-HSA-2022090;R-HSA-216083;R-HSA-3000178;R-HSA-419037;R-HSA-8948216;

sequence:

opentargets:
collagen type VI trimer [GO:0005589]; 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]; sarcolemma [GO:0042383]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; serine-type endopeptidase inhibitor activity [GO:0004867]; cell adhesion [GO:0007155]; extracellular matrix organization [GO:0030198]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]; muscle organ development [GO:0007517]

snps:
rs113716915 rs112010940 rs113897824 rs34741387 rs36092870 rs35227432 rs113155945 rs77181645 rs9630964 rs114284669 rs112638391 rs11896521 rs146092501 rs80272723 rs138049094 rs61729839 rs111231885 rs778940391 rs121434553 rs35273032 rs121434555 rs200478135 rs794727188 rs36117715 rs886044364 rs541928674 rs786205870 rs35848091 rs36104025 rs6728818 rs11903206 rs11690358 rs2270669 rs552651651 rs1131296 rs182976977 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P12111-1; Sequence=Displayed; Name=2; IsoId=P12111-2; Sequence=VSP_001172; Name=3; IsoId=P12111-3; Sequence=VSP_001172, VSP_043434, VSP_043435, VSP_043436; Note=No experimental confirmation available.; Name=4; IsoId=P12111-4; Sequence=VSP_045718, VSP_045719; Name=5; IsoId=P12111-5; Sequence=VSP_001172, VSP_043435, VSP_043436; 


uniprotID: A8TX70
geneSymbol: COL6A5
length: 2615
go: ENSG00000172752;
reactome:
R-HSA-1442490;R-HSA-1650814;R-HSA-186797;R-HSA-2022090;R-HSA-216083;R-HSA-3000178;R-HSA-419037;R-HSA-8948216;

name:
Collagen alpha-5(VI) chain (Collagen alpha-1(XXIX) chain) (von Willebrand factor A domain-containing protein 4)

sequence:

opentargets:
collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; cell adhesion [GO:0007155]

snps:
rs1453241 rs9882852 rs16827168 rs11917356 rs1353613 rs12488457 rs1497312 rs16827497 rs60021408 rs9883988 rs819085 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A8TX70-1; Sequence=Displayed; Name=2; IsoId=A8TX70-2; Sequence=VSP_033912, VSP_033913; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Deposed in the extracellular matrix of skeletal muscle. {ECO:0000250}.


uniprotID: P02778
geneSymbol: CXCL10
reactome: R-HSA-380108;R-HSA-418594;R-HSA-6783783;
pdb: 1LV9;1O7Y;1O7Z;1O80;
sequence: MNQTAILICCLIFLTLSGIQGVPLSRTVRCTCISISNQPVNPRSLEKLEIIPASQFCPRVEIIATMKKKGEKRCLNPESKAIKNLLKAVSKERSKRSP
length: 98
go: ENSG00000169245;
drug: DB04487;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-X-C motif chemokine 10 (10 kDa interferon gamma-induced protein) (Gamma-IP10) (IP-10) (Small-inducible cytokine B10) [Cleaved into: CXCL10(1-73)]

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; cAMP-dependent protein kinase regulator activity [GO:0008603]; chemokine activity [GO:0008009]; CXCR3 chemokine receptor binding [GO:0048248]; heparin binding [GO:0008201]; signaling receptor binding [GO:0005102]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; blood circulation [GO:0008015]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cellular response to heat [GO:0034605]; cellular response to lipopolysaccharide [GO:0071222]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; endothelial cell activation [GO:0042118]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; leukocyte chemotaxis [GO:0030595]; muscle organ development [GO:0007517]; negative regulation of angiogenesis [GO:0016525]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of myoblast fusion [GO:1901740]; neutrophil chemotaxis [GO:0030593]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of cell proliferation [GO:0008284]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of T cell migration [GO:2000406]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell proliferation [GO:0042127]; regulation of endothelial tube morphogenesis [GO:1901509]; regulation of T cell chemotaxis [GO:0010819]; response to auditory stimulus [GO:0010996]; response to cold [GO:0009409]; response to gamma radiation [GO:0010332]; response to vitamin D [GO:0033280]; signal transduction [GO:0007165]; T cell chemotaxis [GO:0010818]


uniprotID: Q02388
geneSymbol: COL7A1
name: Collagen alpha-1(VII) chain (Long-chain collagen) (LC collagen)
length: 2944
go: ENSG00000114270;
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-204005;R-HSA-216083;R-HSA-2214320;R-HSA-3000157;R-HSA-5694530;R-HSA-8948216;

sequence:

opentargets:
basement membrane [GO:0005604]; collagen type VII trimer [GO:0005590]; collagen-containing extracellular matrix [GO:0062023]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; serine-type endopeptidase inhibitor activity [GO:0004867]; cell adhesion [GO:0007155]; COPII vesicle coating [GO:0048208]; endodermal cell differentiation [GO:0035987]; epidermis development [GO:0008544]; ER to Golgi vesicle-mediated transport [GO:0006888]; extracellular matrix organization [GO:0030198]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]

snps:
rs121912856 rs2228561 rs2228563 rs35761247 rs121912833 rs147089666 rs121912835 rs387906605 rs121912840 rs770304825 rs1032335328 rs374718902 rs121912841 rs121912832 rs121912842 rs1055680335 rs121912843 rs766931219 rs762162799 rs121912838 rs121912844 rs121912846 rs121912829 rs121912836 rs121912849 rs866061439 rs121912855 rs121912850 rs755669902 rs121912837 rs121912834 rs121912839 rs1800013 rs2229822 rs760891216 rs139318843 rs121912831 rs121912851 rs369591910 rs121912853 rs1333259313 rs142566193 rs121912828 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02388-1; Sequence=Displayed; Name=2; IsoId=Q02388-2; Sequence=VSP_024026; 


uniprotID: O43927
geneSymbol: CXCL13
reactome: R-HSA-380108;R-HSA-418594;
pdb: 4ZAI;5CBA;5CBE;
length: 109
go: ENSG00000156234;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-X-C motif chemokine 13 (Angie) (B cell-attracting chemokine 1) (BCA-1) (B lymphocyte chemoattractant) (CXC chemokine BLC) (Small-inducible cytokine B13)

sequence:
MKFISTSLLLMLLVSSLSPVQGVLEVYYTSLRCRCVQESSVFIPRRFIDRIQILPRGNGCPRKEIIVWKKNKSIVCVDPQAEWIQRMMEVLRKRSSSTLPVPVFKRKIP

opentargets:
cell [GO:0005623]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR10 chemokine receptor binding [GO:0031735]; chemokine activity [GO:0008009]; CXCR3 chemokine receptor binding [GO:0048248]; CXCR5 chemokine receptor binding [GO:0031724]; fibroblast growth factor binding [GO:0017134]; heparin binding [GO:0008201]; protein heterodimerization activity [GO:0046982]; receptor ligand activity [GO:0048018]; activation of GTPase activity [GO:0090630]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; B cell chemotaxis [GO:0035754]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cellular response to lipopolysaccharide [GO:0071222]; chemokine-mediated signaling pathway [GO:0070098]; chronic inflammatory response [GO:0002544]; defense response to bacterium [GO:0042742]; endothelial cell chemotaxis to fibroblast growth factor [GO:0035768]; G protein-coupled receptor signaling pathway [GO:0007186]; germinal center formation [GO:0002467]; immune response [GO:0006955]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; leukocyte chemotaxis [GO:0030595]; lymphocyte chemotaxis across high endothelial venule [GO:0002518]; negative regulation of endothelial cell chemotaxis to fibroblast growth factor [GO:2000545]; neutrophil chemotaxis [GO:0030593]; positive regulation of cell-cell adhesion mediated by integrin [GO:0033634]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of integrin activation [GO:0033625]; positive regulation of T cell chemotaxis [GO:0010820]; regulation of angiogenesis [GO:0045765]; regulation of humoral immune response [GO:0002920]


uniprotID: Q9H2A7
geneSymbol: CXCL16
reactome: R-HSA-380108;R-HSA-418594;
length: 254
snps: rs2277680
name:
C-X-C motif chemokine 16 (Scavenger receptor for phosphatidylserine and oxidized low density lipoprotein) (SR-PSOX) (Small-inducible cytokine B16) (Transmembrane chemokine CXCL16)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; chemokine activity [GO:0008009]; low-density lipoprotein particle receptor activity [GO:0005041]; scavenger receptor activity [GO:0005044]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; receptor-mediated endocytosis [GO:0006898]; response to cytokine [GO:0034097]; response to interferon-gamma [GO:0034341]; response to tumor necrosis factor [GO:0034612]; T cell chemotaxis [GO:0010818]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Secreted. Note=Also exists as a soluble form.


uniprotID: P07357
geneSymbol: C8A
reactome: R-HSA-166665;R-HSA-977606;
pdb: 2QOS;2QQH;2RD7;3OJY;
name: Complement component C8 alpha chain (Complement component 8 subunit alpha)
length: 584
go: ENSG00000157131;
snps: rs652785 rs706479 rs17114555 rs1620075 rs1342440 rs17300936
sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; membrane attack complex [GO:0005579]; complement binding [GO:0001848]; 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]

location:
SUBCELLULAR LOCATION: Secreted. Cell membrane; Multi-pass membrane protein. Note=Secreted as soluble protein. Inserts into the cell membrane of target cells.


uniprotID: Q03692
geneSymbol: COL10A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-2022090;R-HSA-216083;R-HSA-3000171;R-HSA-8948216;
pdb: 1GR3;
name: Collagen alpha-1(X) chain
length: 680
go: ENSG00000123500;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
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]; metal ion binding [GO:0046872]; extracellular matrix organization [GO:0030198]; skeletal system development [GO:0001501]

snps:
rs111033551 rs111033550 rs1064583 rs2243370 rs148785195 rs2228547 rs111033546 rs111033553 rs111033554 rs111033544 rs111033555 rs143769451 rs111033545 rs111033549 rs111033552 


uniprotID: Q9P0U4
geneSymbol: CXXC1
reactome: R-HSA-381038;
pdb: 3QMB;3QMC;3QMD;3QMG;3QMH;3QMI;
length: 656
go: ENSG00000154832;
name:
CXXC-type zinc finger protein 1 (CpG-binding protein) (PHD finger and CXXC domain-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; histone methyltransferase complex [GO:0035097]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Set1C/COMPASS complex [GO:0048188]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter sequence-specific DNA binding [GO:0000987]; unmethylated CpG binding [GO:0045322]; zinc ion binding [GO:0008270]; histone H3-K4 methylation [GO:0051568]; IRE1-mediated unfolded protein response [GO:0036498]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P0U4-1; Sequence=Displayed; Name=2; IsoId=Q9P0U4-2; Sequence=VSP_040132; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:12200428, ECO:0000269|PubMed:17355966}. Note=Associated with euchromatin. During mitosis, excluded from condensed chromosomes.


uniprotID: Q5SNV9
geneSymbol: C1orf167
name: Uncharacterized protein C1orf167
length: 1468
go: ENSG00000215910;
sequence:

snps:
rs6668699 rs4845880 rs6667720 rs6699881 rs7538516 rs6697244 rs4846043 rs4846044 rs3737967 rs1537514 rs868014 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5SNV9-1; Sequence=Displayed; Name=2; IsoId=Q5SNV9-2; Sequence=VSP_028420; Note=No experimental confirmation available.; 


uniprotID: Q8NDD1
geneSymbol: C1orf131
name: Uncharacterized protein C1orf131
length: 293
go: ENSG00000143633;
opentargets: chromosome [GO:0005694]; RNA binding [GO:0003723]
snps: rs2274067
location: SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:20813266}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NDD1-1; Sequence=Displayed; Name=2; IsoId=Q8NDD1-5; Sequence=VSP_059469; Name=3; IsoId=Q8NDD1-6; Sequence=VSP_059467; Name=4; IsoId=Q8NDD1-7; Sequence=VSP_059466, VSP_059468; 


uniprotID: Q5SVJ3
geneSymbol: C1orf100
name: Uncharacterized protein C1orf100
length: 147
go: ENSG00000173728;
sequence:
MTAIRLREFIERRPVIPPSIFIAHQGRDVQGYYPGQLARLHFDHSAKRAPRPLIDLTIPPKTKYHYQPQLDQQTLIRYICLRRHSKPAEPWYKETTYRRDYSLPFYEIDWNQKLATVSLNPRPLNSLPELYCCEERSSFERNAFKLK

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5SVJ3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5SVJ3-2; Sequence=VSP_022710; 


uniprotID: Q9ULX7
geneSymbol: CA14
reactome: R-HSA-1475029;
pdb: 4LU3;5CJF;
name: Carbonic anhydrase 14 (EC 4.2.1.1) (Carbonate dehydratase XIV) (Carbonic anhydrase XIV) (CA-XIV)
length: 337
go: ENSG00000118298;
drug: DB00819;DB08846;DB00909;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; bicarbonate transport [GO:0015701]


uniprotID: Q8TC20
geneSymbol: CAGE1
name: Cancer-associated gene 1 protein (CAGE-1) (Cancer/testis antigen 3) (CT3)
length: 777
go: ENSG00000164304;
snps: rs10223538 rs2876098
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8TC20-1; Sequence=Displayed; Name=2; IsoId=Q8TC20-2; Sequence=VSP_023902; Name=3; IsoId=Q8TC20-3; Sequence=VSP_023969, VSP_023970; Name=4; IsoId=Q8TC20-4; Sequence=VSP_023971; 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.; Name=5; IsoId=Q8TC20-5; Sequence=VSP_023969, VSP_047149; Note=Gene prediction based on EST data.; 


uniprotID: P55289
geneSymbol: CDH12
reactome: R-HSA-418990;
name: Cadherin-12 (Brain cadherin) (BR-cadherin) (Neural type cadherin 2) (N-cadherin 2)
length: 794
go: ENSG00000154162;
snps: rs4371716 rs17328673 rs12108814
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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55289-1; Sequence=Displayed; Name=2; IsoId=P55289-2; Sequence=VSP_056449; Note=No experimental confirmation available.; 


uniprotID: P20160
geneSymbol: AZU1
reactome: R-HSA-6798695;
pdb: 1A7S;1AE5;1FY1;1FY3;
name: Azurocidin (Cationic antimicrobial protein CAP37) (Heparin-binding protein) (HBP) (hHBP)
length: 251
go: ENSG00000172232;
sequence:

opentargets:
azurophil granule [GO:0042582]; azurophil granule lumen [GO:0035578]; azurophil granule membrane [GO:0035577]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extrinsic component of membrane [GO:0019898]; heparan sulfate proteoglycan binding [GO:0043395]; heparin binding [GO:0008201]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; toxic substance binding [GO:0015643]; antimicrobial humoral response [GO:0019730]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cell chemotaxis [GO:0060326]; cellular extravasation [GO:0045123]; defense response to Gram-negative bacterium [GO:0050829]; defense response to virus [GO:0051607]; glial cell migration [GO:0008347]; induction of positive chemotaxis [GO:0050930]; inflammatory response [GO:0006954]; macrophage chemotaxis [GO:0048246]; microglial cell activation [GO:0001774]; monocyte activation [GO:0042117]; negative regulation of apoptotic process [GO:0043066]; neutrophil degranulation [GO:0043312]; neutrophil mediated killing of bacterium [GO:0070944]; positive regulation of cell adhesion [GO:0045785]; positive regulation of fractalkine biosynthetic process [GO:0050754]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-1 beta biosynthetic process [GO:0050725]; positive regulation of MHC class II biosynthetic process [GO:0045348]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of phagocytosis [GO:0050766]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of tumor necrosis factor biosynthetic process [GO:0042535]; protein kinase C signaling [GO:0070528]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; proteolysis [GO:0006508]; regulation of vascular permeability [GO:0043114]

location:
SUBCELLULAR LOCATION: Cytoplasmic granule membrane {ECO:0000269|PubMed:2312733, ECO:0000269|PubMed:2501794}; Peripheral membrane protein {ECO:0000269|PubMed:2312733}; Cytoplasmic side {ECO:0000269|PubMed:2312733}. Note=Localizes to azurophil granules of neutrophil granulocytes. Also called primary granules, these specialized lysosomes of the neutrophil formed early during promyelocyte development store antibacterial proteins and peptides. {ECO:0000269|PubMed:2312733, ECO:0000269|PubMed:2501794}.


uniprotID: P35520
geneSymbol: CBS
reactome: R-HSA-1614603;R-HSA-2408508;
pdb: 1JBQ;1M54;4COO;4L0D;4L27;4L28;4L3V;4PCU;4UUU;5MMS;
name: Cystathionine beta-synthase (EC 4.2.1.22) (Beta-thionase) (Serine sulfhydrase)
length: 551
go: ENSG00000160200;ENSG00000274276;
drug: DB00151;DB00133;DB00114;DB00118;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; carbon monoxide binding [GO:0070025]; cystathionine beta-synthase activity [GO:0004122]; cysteine synthase activity [GO:0004124]; enzyme binding [GO:0019899]; heme binding [GO:0020037]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; modified amino acid binding [GO:0072341]; nitric oxide binding [GO:0070026]; nitrite reductase (NO-forming) activity [GO:0050421]; oxygen binding [GO:0019825]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; S-adenosyl-L-methionine binding [GO:1904047]; ubiquitin protein ligase binding [GO:0031625]; cysteine biosynthetic process [GO:0019344]; cysteine biosynthetic process from serine [GO:0006535]; cysteine biosynthetic process via cystathionine [GO:0019343]; DNA protection [GO:0042262]; homocysteine catabolic process [GO:0043418]; homocysteine metabolic process [GO:0050667]; hydrogen sulfide biosynthetic process [GO:0070814]; L-cysteine catabolic process [GO:0019448]; L-serine catabolic process [GO:0006565]; L-serine metabolic process [GO:0006563]; transsulfuration [GO:0019346]

snps:
rs201827340 rs148865119 rs555959266 rs17849313 rs786204608 rs863223435 rs786204757 rs786204609 rs34040148 rs778220779 rs121964964 rs760214620 rs775992753 rs770095972 rs770095972 rs781444670 rs886057100 rs121964965 rs121964966 rs121964963 rs755952006 rs373782713 rs121964970 rs121964973 rs758712880 rs761647392 rs763835246 rs773734233 rs758236584 rs149119723 rs121964969 rs5742905 rs141502207 rs760912339 rs779270933 rs121964962 rs781567152 rs777919630 rs777919630 rs398123151 rs760417941 rs771298943 rs121964972 rs267606146 rs745764562 rs117687681 rs11700812 rs757920190 rs372010465 rs763036586 rs769080151 rs121964967 rs28934892 rs863223434 rs756467921 rs28934891 rs121964971 rs755106884 rs121964968 rs150828989 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Major; IsoId=P35520-1; Sequence=Displayed; Name=2; Synonyms=Minor; IsoId=P35520-2; Sequence=VSP_001217; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17087506, ECO:0000269|PubMed:23981774}. Nucleus {ECO:0000269|PubMed:17087506}.


uniprotID: Q8WVX3
geneSymbol: C4orf3
sequence: MEVDAPGVDGRDGLRERRGFSEGGRQNFDVRPQSGANGLPKHSYWLDLWLFILFDVVVFLFVYFLP
length: 66
go: ENSG00000164096;
opentargets: integral component of membrane [GO:0016021]
snps: rs17851522 rs11544530
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Uncharacterized protein C4orf3 (Hepatitis C virus F protein-transactivated protein 1) (HCV F-transactivated protein 1)

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WVX3-1; Sequence=Displayed; Name=2; IsoId=Q8WVX3-2; Sequence=VSP_032405; Note=No experimental confirmation available.; 


uniprotID: P28907
geneSymbol: CD38
reactome: R-HSA-196807;
length: 300
go: ENSG00000004468;
drug: DB09331;
snps: rs1800561
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
pdb:
1YH3;1ZVM;2EF1;2HCT;2I65;2I66;2I67;2O3Q;2O3R;2O3S;2O3T;2O3U;2PGJ;2PGL;3DZF;3DZG;3DZH;3DZI;3DZJ;3DZK;3F6Y;3I9M;3I9N;3OFS;3RAJ;3ROK;3ROM;3ROP;3ROQ;3U4H;3U4I;4CMH;4F45;4F46;4OGW;4TMF;4XJS;4XJT;5F1K;5F1O;5F21;

name:
ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (EC 3.2.2.6) (2'-phospho-ADP-ribosyl cyclase) (2'-phospho-ADP-ribosyl cyclase/2'-phospho-cyclic-ADP-ribose transferase) (EC 2.4.99.20) (2'-phospho-cyclic-ADP-ribose transferase) (ADP-ribosyl cyclase 1) (ADPRC 1) (Cyclic ADP-ribose hydrolase 1) (cADPr hydrolase 1) (T10) (CD antigen CD38)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; identical protein binding [GO:0042802]; 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]; apoptotic signaling pathway [GO:0097190]; artery smooth muscle contraction [GO:0014824]; B cell receptor signaling pathway [GO:0050853]; female pregnancy [GO:0007565]; long-term synaptic depression [GO:0060292]; NAD metabolic process [GO:0019674]; negative regulation of apoptotic process [GO:0043066]; negative regulation of bone resorption [GO:0045779]; negative regulation of neuron projection development [GO:0010977]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cell growth [GO:0030307]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of insulin secretion [GO:0032024]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vasoconstriction [GO:0045907]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to hydroperoxide [GO:0033194]; response to hypoxia [GO:0001666]; response to interleukin-1 [GO:0070555]; response to progesterone [GO:0032570]; response to retinoic acid [GO:0032526]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P28907-1; Sequence=Displayed; Name=2; IsoId=P28907-2; Sequence=VSP_000707, VSP_000708; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q15078
geneSymbol: CDK5R1
reactome: R-HSA-399956;R-HSA-6804756;R-HSA-8862803;R-HSA-9032845;
pdb: 1H4L;1UNG;1UNH;1UNL;3O0G;
length: 307
go: ENSG00000176749;
drug: DB02052;
name:
Cyclin-dependent kinase 5 activator 1 (CDK5 activator 1) (Cyclin-dependent kinase 5 regulatory subunit 1) (TPKII regulatory subunit) [Cleaved into: Cyclin-dependent kinase 5 activator 1, p35 (p35); Cyclin-dependent kinase 5 activator 1, p25 (p25) (Tau protein kinase II 23 kDa subunit) (p23)]

sequence:

opentargets:
axon [GO:0030424]; contractile fiber [GO:0043292]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; growth cone [GO:0030426]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; presynapse [GO:0098793]; protein kinase 5 complex [GO:0016533]; actin filament binding [GO:0051015]; alpha-tubulin binding [GO:0043014]; beta-tubulin binding [GO:0048487]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cyclin-dependent protein kinase 5 activator activity [GO:0016534]; ephrin receptor binding [GO:0046875]; ionotropic glutamate receptor binding [GO:0035255]; kinase activity [GO:0016301]; protease binding [GO:0002020]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activator activity [GO:0043539]; axon guidance [GO:0007411]; axonal fasciculation [GO:0007413]; brain development [GO:0007420]; cell proliferation [GO:0008283]; cerebellum development [GO:0021549]; embryo development ending in birth or egg hatching [GO:0009792]; ephrin receptor signaling pathway [GO:0048013]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; hippocampus development [GO:0021766]; ionotropic glutamate receptor signaling pathway [GO:0035235]; layer formation in cerebral cortex [GO:0021819]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of axon extension [GO:0030517]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron cell-cell adhesion [GO:0007158]; neuron differentiation [GO:0030182]; neuron migration [GO:0001764]; neuron projection development [GO:0031175]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of protein targeting to membrane [GO:0090314]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of dendritic spine morphogenesis [GO:0061001]; regulation of macroautophagy [GO:0016241]; regulation of neuron differentiation [GO:0045664]; regulation of synaptic vesicle cycle [GO:0098693]; rhythmic process [GO:0048511]; serine phosphorylation of STAT protein [GO:0042501]; superior olivary nucleus maturation [GO:0021722]

location:
SUBCELLULAR LOCATION: Cyclin-dependent kinase 5 activator 1, p35: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Note=In the primary cortical neurons, p35 is present in the peripheries and nerve terminals.; SUBCELLULAR LOCATION: Cyclin-dependent kinase 5 activator 1, p25: Nucleus. Cytoplasm, perinuclear region. Note=The conversion of p35 to p25 relocalizes the protein from the cell periphery to the cytoplasm, in nuclear and perinuclear regions. In the primary cortical neurons, p25 is primarily concentrated in the cell soma and is largely absent from neurites.


uniprotID: D6RIA3
geneSymbol: C4orf54
name: Uncharacterized protein C4orf54 (Familial obliterative portal venopathy)
length: 1793
go: ENSG00000248713;
snps: rs1034287647 rs555103041
sequence:


uniprotID: Q9NNX6
geneSymbol: CD209
reactome: R-HSA-5621575;R-HSA-8851680;
pdb: 1K9I;1SL4;1SL5;2B6B;2IT5;2IT6;2XR5;2XR6;
length: 404
go: ENSG00000090659;
snps: rs11465377 rs11465377 rs11465380 rs11465393
name:
CD209 antigen (C-type lectin domain family 4 member L) (Dendritic cell-specific ICAM-3-grabbing non-integrin 1) (DC-SIGN) (DC-SIGN1) (CD antigen CD209)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; host cell [GO:0043657]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; mannose binding [GO:0005537]; metal ion binding [GO:0046872]; peptide antigen binding [GO:0042605]; virion binding [GO:0046790]; virus receptor activity [GO:0001618]; adaptive immune response [GO:0002250]; antigen processing and presentation [GO:0019882]; B cell adhesion [GO:0097323]; cell-cell recognition [GO:0009988]; endocytosis [GO:0006897]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; innate immune response [GO:0045087]; intracellular signal transduction [GO:0035556]; intracellular transport of virus [GO:0075733]; leukocyte cell-cell adhesion [GO:0007159]; modulation by virus of host morphology or physiology [GO:0019048]; peptide antigen transport [GO:0046968]; positive regulation of T cell proliferation [GO:0042102]; regulation of T cell proliferation [GO:0042129]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; viral genome replication [GO:0019079]; virion attachment to host cell [GO:0019062]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Comment=Additional isoforms seem to exist. Several splicing events may be used independently in a modular way. Deletion of the transmembrane domain encoding exon through alternative splicing produces soluble isoforms. {ECO:0000269|PubMed:11337487}; Name=1; Synonyms=mDC-SIGN1A type I; IsoId=Q9NNX6-1; Sequence=Displayed; Name=2; Synonyms=mDC-SIGN1A type II; IsoId=Q9NNX6-2; Sequence=VSP_010049; Name=3; Synonyms=mDC-SIGN1A type III; IsoId=Q9NNX6-3; Sequence=VSP_010044; Name=4; Synonyms=mDC-SIGN1A type IV; IsoId=Q9NNX6-4; Sequence=VSP_010042; Name=5; Synonyms=mDC-SIGN1B type I; IsoId=Q9NNX6-5; Sequence=VSP_010037; Name=6; Synonyms=sDC-SIGN1A type I; IsoId=Q9NNX6-6; Sequence=VSP_010041; Name=7; Synonyms=sDC-SIGN1A type II; IsoId=Q9NNX6-7; Sequence=VSP_010038; Name=8; Synonyms=sDC-SIGN1A type III; IsoId=Q9NNX6-8; Sequence=VSP_010038, VSP_010043; Name=9; Synonyms=sDC-SIGN1A type IV; IsoId=Q9NNX6-9; Sequence=VSP_010039, VSP_010040; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=10; Synonyms=sDC-SIGN1B type I; IsoId=Q9NNX6-10; Sequence=VSP_010037, VSP_010041; Name=11; Synonyms=sDC-SIGN1B type II; IsoId=Q9NNX6-11; Sequence=VSP_010037, VSP_010041, VSP_010047; Name=12; Synonyms=sDC-SIGN1B type III; IsoId=Q9NNX6-12; Sequence=VSP_010037, VSP_010041, VSP_010048, VSP_010050; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 5: Cell membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 6: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 7: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 8: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 9: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 10: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 11: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 12: Secreted {ECO:0000305}.


uniprotID: P30203
geneSymbol: CD6
pdb: 5A2E;
name: T-cell differentiation antigen CD6 (T12) (TP120) (CD antigen CD6) [Cleaved into: Soluble CD6]
length: 668
go: ENSG00000013725;
snps: rs11230562 rs11230563 rs2074225 rs12360861 rs34974368 rs2074233
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; immunological synapse [GO:0001772]; integral component of plasma membrane [GO:0005887]; intrinsic component of plasma membrane [GO:0031226]; identical protein binding [GO:0042802]; lipopolysaccharide binding [GO:0001530]; lipoteichoic acid binding [GO:0070891]; scavenger receptor activity [GO:0005044]; acute inflammatory response to antigenic stimulus [GO:0002438]; adaptive immune response [GO:0002250]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; immunological synapse formation [GO:0001771]; innate immune response [GO:0045087]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]; positive regulation of T cell proliferation [GO:0042102]; response to lipopolysaccharide [GO:0032496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=CD6A; IsoId=P30203-1; Sequence=Displayed; Name=CD6B; IsoId=P30203-2; Sequence=VSP_006221; Name=CD6C; IsoId=P30203-3; Sequence=VSP_006221, VSP_006222; Name=CD6D; IsoId=P30203-4; Sequence=VSP_006221, VSP_006223; Name=CD6E; IsoId=P30203-5; Sequence=VSP_006222, VSP_006223; Name=6; Synonyms=CD6deltaD3Ex6; IsoId=P30203-6; Sequence=VSP_054246; Note=Lacks the third SRCR domain and doesn't bind ALCAM/CD166. Doesn't localize to the immunological synapse.; Name=7; Synonyms=CD6deltaD3; IsoId=P30203-7; Sequence=VSP_054245; Note=Lacks the third SRCR domain and doesn't bind ALCAM/CD166. Doesn't localize to the immunological synapse. Constitutes the only expressed species in a small percentage of T-cells. {ECO:0000269|PubMed:17371992}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15048703, ECO:0000269|PubMed:15294938, ECO:0000269|PubMed:16352806, ECO:0000269|PubMed:16914752, ECO:0000269|PubMed:17371992, ECO:0000269|PubMed:17601777, ECO:0000269|PubMed:24945728, ECO:0000269|PubMed:9013954}; Single-pass type I membrane protein {ECO:0000269|PubMed:17371992}. Note=Detected at the immunological synapse, i.e, at the contact zone between antigen-presenting dendritic cells and T-cells (PubMed:15294938, PubMed:16352806). Colocalizes with the TCR/CD3 complex at the immunological synapse (PubMed:15294938). {ECO:0000269|PubMed:15294938}.; SUBCELLULAR LOCATION: Soluble CD6: Secreted {ECO:0000269|PubMed:17601777}. Note=The origins of the secreted form are not clear, but it might be created by proteolytic shedding of the ectodomain. {ECO:0000305}.


uniprotID: Q8N6Q3
geneSymbol: CD177
reactome: R-HSA-140875;R-HSA-202733;R-HSA-6798695;
length: 437
go: ENSG00000204936;
snps: rs45441892 rs45553433 rs10425835 rs17856829 rs78718189
name:
CD177 antigen (Human neutrophil alloantigen 2a) (HNA-2a) (NB1 glycoprotein) (NB1 GP) (Polycythemia rubra vera protein 1) (PRV-1) (CD antigen CD177)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular exosome [GO:0070062]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; secretory granule membrane [GO:0030667]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; calcium-dependent protein binding [GO:0048306]; integrin binding [GO:0005178]; protease binding [GO:0002020]; blood coagulation [GO:0007596]; cell adhesion [GO:0007155]; cell-cell adhesion via plasma-membrane adhesion molecules [GO:0098742]; cell-cell junction maintenance [GO:0045217]; innate immune response [GO:0045087]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; neutrophil degranulation [GO:0043312]; neutrophil extravasation [GO:0072672]; neutrophil migration [GO:1990266]; positive regulation of neutrophil degranulation [GO:0043315]; positive regulation of superoxide anion generation [GO:0032930]; protein localization to cell surface [GO:0034394]; regulation of endocytosis [GO:0030100]; regulation of integrin-mediated signaling pathway [GO:2001044]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N6Q3-1; Sequence=Displayed; Name=2; IsoId=Q8N6Q3-2; Sequence=VSP_017860, VSP_017861; Note=Associated with CD177-negative phenotype.; Name=3; IsoId=Q8N6Q3-3; Sequence=VSP_017858, VSP_017859; Note=Associated with CD177-negative phenotype.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12239154, ECO:0000269|PubMed:12675722, ECO:0000269|PubMed:17244676, ECO:0000269|PubMed:17580308, ECO:0000269|PubMed:18462208, ECO:0000269|PubMed:21193407, ECO:0000269|PubMed:24926686, ECO:0000269|PubMed:27227454, ECO:0000269|PubMed:28240246, ECO:0000269|PubMed:28807980}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:12239154, ECO:0000269|PubMed:17244676}. Membrane raft {ECO:0000269|PubMed:21193407}; Lipid-anchor, GPI-like-anchor {ECO:0000269|PubMed:12239154, ECO:0000269|PubMed:17244676}. Secreted {ECO:0000269|PubMed:12239154, ECO:0000269|PubMed:18462208}. Cytoplasmic granule membrane {ECO:0000269|PubMed:18462208}. Cell projection, lamellipodium {ECO:0000269|PubMed:28807980}. Note=Cell surface expression on neutrophils is increased upon TNF-alpha, fMLP or CXCL8/IL8-mediated stimulation (PubMed:17244676, PubMed:17580308). In neutrophils, stored predominantly in secondary and tertiary granules (PubMed:18462208). Can also be shedded from the cell membrane (PubMed:12239154, PubMed:18462208). Localizes to lamellar protrusions in spreading neutrophils (PubMed:28807980). {ECO:0000269|PubMed:12239154, ECO:0000269|PubMed:17244676, ECO:0000269|PubMed:17580308, ECO:0000269|PubMed:18462208, ECO:0000269|PubMed:28807980}.


uniprotID: P20273
geneSymbol: CD22
reactome: R-HSA-198933;R-HSA-5690714;R-HSA-983695;
pdb: 5VKJ;5VKM;5VL3;
length: 847
go: ENSG00000012124;
drug: DB04958;
snps: rs201453271 rs554866571 rs752024645 rs35715143 rs1058407 rs17719289 rs749980313 rs10406069
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
B-cell receptor CD22 (B-lymphocyte cell adhesion molecule) (BL-CAM) (Sialic acid-binding Ig-like lectin 2) (Siglec-2) (T-cell surface antigen Leu-14) (CD antigen CD22)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; early endosome [GO:0005769]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; neuronal cell body membrane [GO:0032809]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; carbohydrate binding [GO:0030246]; CD4 receptor binding [GO:0042609]; IgM binding [GO:0001791]; protein phosphatase binding [GO:0019903]; sialic acid binding [GO:0033691]; signaling receptor binding [GO:0005102]; cell adhesion [GO:0007155]; negative regulation of B cell receptor signaling pathway [GO:0050859]; negative regulation of calcium-mediated signaling [GO:0050849]; negative regulation of immunoglobulin secretion [GO:0051025]; regulation of B cell proliferation [GO:0030888]; regulation of endocytosis [GO:0030100]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=CD22-beta; IsoId=P20273-1; Sequence=Displayed; Name=CD22-alpha; IsoId=P20273-2; Sequence=VSP_002531; Name=3; IsoId=P20273-3; Sequence=VSP_045363; Note=No experimental confirmation available.; Name=4; IsoId=P20273-4; Sequence=VSP_047223, VSP_047224; Note=Gene prediction based on EST data.; Name=5; IsoId=P20273-5; Sequence=VSP_054619, VSP_054620; Note=No experimental confirmation available.; 


uniprotID: Q69YH5
geneSymbol: CDCA2
pdb: 5INB;5IOH;5SW9;
length: 1023
go: ENSG00000184661;
snps: rs4872318 rs3829009
name:
Cell division cycle-associated protein 2 (Recruits PP1 onto mitotic chromatin at anaphase protein) (Repo-Man)

sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; cell cycle [GO:0007049]; cell division [GO:0051301]; positive regulation of protein dephosphorylation [GO:0035307]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q69YH5-1; Sequence=Displayed; Name=2; IsoId=Q69YH5-2; Sequence=VSP_025598, VSP_025599; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16492807}. Note=Excluded from the nucleolus. Present in nucleoplasm throughout the G1, S and G2 stages of the cell cycle. During M phase, it becomes diffuse throughout the cell as the nuclear membrane breaks down, and faintly accumulates later on metaphase chromatin. As the cell progresses to anaphase, it accumulates on chromatin.


uniprotID: Q8N0T1
geneSymbol: C8orf59
name: Uncharacterized protein C8orf59
length: 100
go: ENSG00000176731;
sequence:
MAKNKLRGPKSRNVFHIASQKNFKAKNKAKPVTTNLKKINIMNEEKVNRVNKAFVNVQKELAHFAKSISLEPLQKELIPQQRHESKPVNVDEATRLMALL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N0T1-1; Sequence=Displayed; Name=2; IsoId=Q8N0T1-2; Sequence=VSP_032304; Note=No experimental confirmation available.; 


uniprotID: Q9Y4M8
geneSymbol: LINC00588
name: Putative uncharacterized protein encoded by LINC00588
length: 146
sequence:
MATFHRAHATSSVKPRARRHQEPNSGDWPGSYRAGTRCSAIGFRLLHSPQHWRPRSLGAGQGREDPSWEGGALGDLKALWDQPCQPPPWVQLQLSSAYGARQQRWQLSTLPEPPAARTPGQMPQQRLIRAAGPSAAGGGNQWLSPM


uniprotID: Q6P047
geneSymbol: C8orf74
name: Uncharacterized protein C8orf74
length: 294
go: ENSG00000171060;
snps: rs11250058 rs57041981
sequence:


uniprotID: Q99674
geneSymbol: CGREF1
length: 301
go: ENSG00000138028;
snps: rs2384572 rs11893478 rs11889831 rs1057389
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Cell growth regulator with EF hand domain protein 1 (Cell growth regulatory gene 11 protein) (Hydrophobestin)

sequence:

opentargets:
extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; cell cycle arrest [GO:0007050]; negative regulation of cell proliferation [GO:0008285]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q99674-1; Sequence=Displayed; Name=2; IsoId=Q99674-2; Sequence=VSP_045389, VSP_045390; Note=No experimental confirmation available.; Name=3; IsoId=Q99674-3; Sequence=VSP_046505, VSP_046506; Note=Ref.3 (BAG63550.1) sequence differ(s) from that shown due to erroneous termination (Translated as Q).; Name=4; IsoId=Q99674-4; Sequence=VSP_046508; Name=5; IsoId=Q99674-5; Sequence=VSP_046504, VSP_046507; Note=No experimental confirmation available.; 


uniprotID: Q92674
geneSymbol: CENPI
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
length: 756
go: ENSG00000102384;
name:
Centromere protein I (CENP-I) (FSH primary response protein 1) (Follicle-stimulating hormone primary response protein) (Interphase centromere complex protein 19) (Leucine-rich primary response protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; kinetochore [GO:0000776]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; CENP-A containing nucleosome assembly [GO:0034080]; sex differentiation [GO:0007548]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92674-1; Sequence=Displayed; Name=2; IsoId=Q92674-2; Sequence=VSP_015797; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere. Note=Localizes exclusively in the centromeres. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex.


uniprotID: Q9H3Y0
geneSymbol: R3HDML
name: Peptidase inhibitor R3HDML (Cysteine-rich secretory protein R3HDML)
length: 253
go: ENSG00000101074;
opentargets: extracellular space [GO:0005615]; peptidase inhibitor activity [GO:0030414]
snps: rs11699901 rs36117710
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: O95727
geneSymbol: CRTAM
reactome: R-HSA-198933;
pdb: 3RBG;4H5S;
length: 393
go: ENSG00000109943;
snps: rs35411582 rs34397316 rs35136295 rs2272094 rs1916036
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}.
name:
Cytotoxic and regulatory T-cell molecule (Class-I MHC-restricted T-cell-associated molecule) (CD antigen CD355)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; signaling receptor binding [GO:0005102]; adaptive immune response [GO:0002250]; cell recognition [GO:0008037]; detection of stimulus [GO:0051606]; detection of tumor cell [GO:0002355]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target [GO:0002860]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:10811014}; IsoId=O95727-1; Sequence=Displayed; Name=2; IsoId=O95727-2; Sequence=VSP_052471, VSP_052472; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q6UUV9
geneSymbol: CRTC1
reactome: R-HSA-2151201;R-HSA-400253;
length: 634
go: ENSG00000105662;
snps: rs3746266 rs36070283 rs3746266
name:
CREB-regulated transcription coactivator 1 (Mucoepidermoid carcinoma translocated protein 1) (Transducer of regulated cAMP response element-binding protein 1) (TORC-1) (Transducer of CREB protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; neuronal cell body [GO:0043025]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; cAMP response element binding protein binding [GO:0008140]; energy homeostasis [GO:0097009]; entrainment of circadian clock by photoperiod [GO:0043153]; memory [GO:0007613]; negative regulation of membrane hyperpolarization [GO:1902631]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of dendrite development [GO:1900006]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of transcription by RNA polymerase II [GO:0045944]; postsynapse to nucleus signaling pathway [GO:0099527]; protein homotetramerization [GO:0051289]; rhythmic process [GO:0048511]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:14506290}; IsoId=Q6UUV9-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q6UUV9-2; Sequence=VSP_051749; Note=No experimental confirmation available.; Name=3 {ECO:0000269|PubMed:12539049}; IsoId=Q6UUV9-3; Sequence=VSP_051750, VSP_051751; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15589160}. Nucleus {ECO:0000269|PubMed:15589160}. Note=Cytoplasmic when phosphorylated by SIK or AMPK and when sequestered by 14-3-3 proteins (PubMed:16817901). Translocated to the nucleus on Ser-151 dephosphorylation, instigated by a number of factors including calcium ion and cAMP levels (PubMed:15589160). Light stimulation triggers a nuclear accumulation in the suprachiasmatic nucleus (SCN) of the brain (By similarity). {ECO:0000250|UniProtKB:Q68ED7, ECO:0000269|PubMed:15589160, ECO:0000269|PubMed:16817901}.


uniprotID: Q53ET0
geneSymbol: CRTC2
reactome: R-HSA-2151201;R-HSA-400253;
pdb: 4HTM;
length: 693
go: ENSG00000160741;
snps: rs11264680 rs150423770
name:
CREB-regulated transcription coactivator 2 (Transducer of regulated cAMP response element-binding protein 2) (TORC-2) (Transducer of CREB protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cAMP response element binding protein binding [GO:0008140]; chromatin binding [GO:0003682]; gluconeogenesis [GO:0006094]; glucose homeostasis [GO:0042593]; histone H3-K9 acetylation [GO:0043970]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein homotetramerization [GO:0051289]; toxin transport [GO:1901998]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15589160}. Nucleus {ECO:0000269|PubMed:15589160}. Note=Translocated from the nucleus to the cytoplasm on interaction of the phosphorylated form with 14-3-3 protein (PubMed:15454081). In response to cAMP levels and glucagon, relocated to the nucleus (PubMed:15454081). {ECO:0000269|PubMed:15454081}.


uniprotID: Q6UUV7
geneSymbol: CRTC3
reactome: R-HSA-2151201;R-HSA-400253;
length: 619
go: ENSG00000140577;
snps: rs8033595
name:
CREB-regulated transcription coactivator 3 (Transducer of regulated cAMP response element-binding protein 3) (TORC-3) (Transducer of CREB protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cAMP response element binding protein binding [GO:0008140]; energy homeostasis [GO:0097009]; macrophage activation [GO:0042116]; negative regulation of cAMP-mediated signaling [GO:0043951]; negative regulation of lipid catabolic process [GO:0050995]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein homotetramerization [GO:0051289]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UUV7-1; Sequence=Displayed; Name=3; IsoId=Q6UUV7-3; Sequence=VSP_031220; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15454081, ECO:0000269|PubMed:15589160, ECO:0000269|PubMed:16817901}. Cytoplasm {ECO:0000269|PubMed:15589160, ECO:0000269|PubMed:16817901}. Note=Appears to be mainly nuclear. {ECO:0000269|PubMed:15454081}.


uniprotID: Q9BUX1
geneSymbol: CHAC1
reactome: R-HSA-174403;
length: 222
go: ENSG00000128965;
name:
Glutathione-specific gamma-glutamylcyclotransferase 1 (Gamma-GCG 1) (EC 4.3.2.7) (Blocks Notch protein) (Botch) (Cation transport regulator-like protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; trans-Golgi network [GO:0005802]; gamma-glutamylcyclotransferase activity [GO:0003839]; glutathione specific gamma-glutamylcyclotransferase activity [GO:0061928]; Notch binding [GO:0005112]; glutathione biosynthetic process [GO:0006750]; glutathione catabolic process [GO:0006751]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of protein processing [GO:0010955]; neurogenesis [GO:0022008]; Notch signaling pathway [GO:0007219]; response to unfolded protein [GO:0006986]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BUX1-1; Sequence=Displayed; Name=2; IsoId=Q9BUX1-2; Sequence=VSP_038960; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19109178}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:Q8R3J5}.


uniprotID: O15335
geneSymbol: CHAD
pdb: 5LFN;5MX1;
name: Chondroadherin (Cartilage leucine-rich protein)
length: 359
go: ENSG00000136457;
snps: rs35218093 rs2231510
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; bone development [GO:0060348]; negative regulation of bone trabecula formation [GO:1900155]


uniprotID: P82279
geneSymbol: CRB1
pdb: 4UU5;
name: Protein crumbs homolog 1
length: 1406
go: ENSG00000134376;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell-cell adherens junction [GO:0005913]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; microvillus [GO:0005902]; photoreceptor inner segment [GO:0001917]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; calcium ion binding [GO:0005509]; cell-cell signaling [GO:0007267]; establishment or maintenance of cell polarity [GO:0007163]; eye photoreceptor cell development [GO:0042462]; plasma membrane organization [GO:0007009]

snps:
rs145141811 rs62636262 rs62635651 rs137853138 rs764256655 rs62645749 rs114846212 rs62635652 rs62636263 rs779835125 rs587783015 rs62645754 rs62636288 rs954595597 rs963201816 rs62636264 rs777377174 rs113082791 rs62636286 rs62636266 rs62645755 rs145282040 rs62636267 rs28939720 rs896160584 rs62635654 rs375040930 rs62636287 rs142857810 rs116471343 rs62636289 rs539189291 rs776591659 rs62636271 rs62635658 rs62636290 rs114052315 rs114630940 rs62645748 rs557111131 rs62636274 rs62635656 rs62635657 rs62635659 rs62635659 rs62636275 rs62636276 rs62636276 rs917768074 rs62636291 rs574742644 rs62636281 rs62635649 rs62636285 rs377543137 rs200469148 rs200573274 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P82279-1; Sequence=Displayed; Name=2; IsoId=P82279-2; Sequence=VSP_014728, VSP_014729; Name=3; IsoId=P82279-3; Sequence=VSP_014725; Note=No experimental confirmation available.; Name=4; IsoId=P82279-4; Sequence=VSP_014724, VSP_014726, VSP_014727; Note=No experimental confirmation available.; Name=5; IsoId=P82279-5; Sequence=VSP_045332; 

location:
SUBCELLULAR LOCATION: Isoform 1: Apical cell membrane; Single-pass type I membrane protein. Note=Distributed at the apical membrane of all retinal epithelial cells. Located in the apical membrane of the adherens junction in outer limiting membrane (OLM) of the retina.; SUBCELLULAR LOCATION: Isoform 2: Secreted.


uniprotID: Q8WYQ3
geneSymbol: CHCHD10
reactome: R-HSA-1268020;
name: Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial (Protein N27C7-4)
length: 142
go: ENSG00000250479;
snps: rs730880032 rs551521196 rs730880033 rs587777574 rs730880031
sequence:
MPRGSRSAASRPASRPAAPSAHPPAHPPPSAAAPAPAPSGQPGLMAQMATTAAGVAVGSAVGHVMGSALTGAFSGGSSEPSQPAVQQAPTPAAPQPLQMGPCAYEIRQFLDCSTTQSDLSLCEGFSEALKQCKYYHGLSSLP

opentargets:
MICOS complex [GO:0061617]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; ATP biosynthetic process [GO:0006754]; mitochondrial nucleoid organization [GO:0090144]; mitochondrion organization [GO:0007005]; negative regulation of ATP citrate synthase activity [GO:2000984]; oxidative phosphorylation [GO:0006119]; positive regulation of cristae formation [GO:1903852]; positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901030]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; protein-containing complex disassembly [GO:0032984]

location:
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:24934289}. Note=Enriched at the cristae junctions. {ECO:0000269|PubMed:24934289}.


uniprotID: Q9BSY4
geneSymbol: CHCHD5
reactome: R-HSA-1268020;
pdb: 2LQL;
name: Coiled-coil-helix-coiled-coil-helix domain-containing protein 5
length: 110
opentargets: mitochondrial intermembrane space [GO:0005758]
location: SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000305}.
sequence:
MQAALEVTARYCGRELEQYGQCVAAKPESWQRDCHYLKMSIAQCTSSHPIIRQIRQACAQPFEAFEECLRQNEAAVGNCAEHMRRFLQCAEQVQPPRSPATVEAQPLPAS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BSY4-1; Sequence=Displayed; Name=2; IsoId=Q9BSY4-2; Sequence=VSP_056577; Note=No experimental confirmation available.; 


uniprotID: Q5T1J5
geneSymbol: CHCHD2P9
length: 151
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Putative coiled-coil-helix-coiled-coil-helix domain-containing protein CHCHD2P9, mitochondrial (Coiled-coil-helix-coiled-coil-helix domain-containing 2 pseudogene 9)

sequence:
MPRGSRSRTSRMAPPASRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVGSAVGHTQGHAVTGGFSGGSNAEPARPDIAYQEPQGTQPAQQQQPCFYGIKQFLECAQNQGDIKLCEDFSKVLKQCRLAKGLA

opentargets:
mitochondrion [GO:0005739]; nucleus [GO:0005634]; sequence-specific DNA binding [GO:0043565]; mitochondrion organization [GO:0007005]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q86WJ1
geneSymbol: CHD1L
reactome: R-HSA-5696395;R-HSA-5696400;
length: 897
go: ENSG00000131778;
snps: rs11588753 rs17356233 rs13374920 rs2275249 rs4950394
name:
Chromodomain-helicase-DNA-binding protein 1-like (EC 3.6.4.12) (Amplified in liver cancer protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; ATPase activity [GO:0016887]; nucleotide binding [GO:0000166]; cellular response to DNA damage stimulus [GO:0006974]; chromatin remodeling [GO:0006338]; DNA repair [GO:0006281]; global genome nucleotide-excision repair [GO:0070911]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q86WJ1-1; Sequence=Displayed; Name=2; IsoId=Q86WJ1-2; Sequence=VSP_033342; Name=3; IsoId=Q86WJ1-3; Sequence=VSP_033341; Name=4; IsoId=Q86WJ1-4; Sequence=VSP_033340; Name=5; IsoId=Q86WJ1-5; Sequence=VSP_055675; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19661379}. Note=Localizes at sites of DNA damage. Probably recruited to DNA damage sites by PARylated PARP1.


uniprotID: O14647
geneSymbol: CHD2
name: Chromodomain-helicase-DNA-binding protein 2 (CHD-2) (EC 3.6.4.12) (ATP-dependent helicase CHD2)
length: 1828
go: ENSG00000173575;
snps: rs864309537 rs864309540 rs56227200
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Binds to myogenic gene promoters. {ECO:0000250}.
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; DNA binding [GO:0003677]; histone binding [GO:0042393]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; chromatin organization [GO:0006325]; muscle organ development [GO:0007517]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O14647-1; Sequence=Displayed; Name=2; IsoId=O14647-2; Sequence=VSP_021918, VSP_021919; Note=No experimental confirmation available.; Name=3; IsoId=O14647-3; Sequence=VSP_042791; 


uniprotID: Q12873
geneSymbol: CHD3
reactome: R-HSA-3214815;R-HSA-427389;R-HSA-4551638;R-HSA-6804758;R-HSA-73762;R-HSA-8943724;
length: 2000
go: ENSG00000170004;
snps: rs931543
name:
Chromodomain-helicase-DNA-binding protein 3 (CHD-3) (EC 3.6.4.12) (ATP-dependent helicase CHD3) (Mi-2 autoantigen 240 kDa protein) (Mi2-alpha) (Zinc finger helicase) (hZFH)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NuRD complex [GO:0016581]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; histone deacetylase activity [GO:0004407]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; centrosome cycle [GO:0007098]; chromatin assembly or disassembly [GO:0006333]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; spindle organization [GO:0007051]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q12873-1; Sequence=Displayed; Name=2; IsoId=Q12873-2; Sequence=VSP_017231; Name=3; IsoId=Q12873-3; Sequence=VSP_047097; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17626165}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17626165}. Note=Associates with centrosomes in interphase and mitosis.


uniprotID: Q14839
geneSymbol: CHD4
reactome: R-HSA-3214815;R-HSA-427389;R-HSA-6804758;R-HSA-73762;R-HSA-8943724;
pdb: 1MM2;1MM3;2EE1;2L5U;2L75;2N5N;4O9I;6BGG;
length: 1912
go: ENSG00000111642;
name:
Chromodomain-helicase-DNA-binding protein 4 (CHD-4) (EC 3.6.4.12) (ATP-dependent helicase CHD4) (Mi-2 autoantigen 218 kDa protein) (Mi2-beta)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NuRD complex [GO:0016581]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; DNA binding [GO:0003677]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; RNA polymerase II repressing transcription factor binding [GO:0001103]; zinc ion binding [GO:0008270]; ATP-dependent chromatin remodeling [GO:0043044]; regulation of transcription by RNA polymerase II [GO:0006357]

snps:
rs1639122 rs886039916 rs886039915 rs886039917 rs886039919 rs886039918 rs201992075 rs35512811 rs16932768 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14839-1; Sequence=Displayed; Name=2; IsoId=Q14839-2; Sequence=VSP_011416; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17626165, ECO:0000269|PubMed:27616479}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17626165}. Note=Associates with centrosomes in interphase. {ECO:0000250|UniProtKB:Q6PDQ2}.


uniprotID: Q8TD26
geneSymbol: CHD6
pdb: 2EPB;
length: 2715
go: ENSG00000124177;
snps: rs4474937 rs3817893
name:
Chromodomain-helicase-DNA-binding protein 6 (CHD-6) (EC 3.6.4.12) (ATP-dependent helicase CHD6) (Radiation-induced gene B protein)

sequence:

opentargets:
nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA-dependent ATPase activity [GO:0008094]; helicase activity [GO:0004386]; transcription cofactor binding [GO:0001221]; chromatin organization [GO:0006325]; positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress [GO:0036091]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TD26-1; Sequence=Displayed; Name=2; IsoId=Q8TD26-2; Sequence=VSP_015296, VSP_015297, VSP_015298; Note=Gene prediction based on EST data.; Name=3; IsoId=Q8TD26-3; Sequence=VSP_015299, VSP_015300, VSP_015301; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:17027977, ECO:0000269|PubMed:21899694}. Note=Enriched at sites of mRNA synthesis (PubMed:17027977). During influenza A virus infection, localizes to inactive chromatin. {ECO:0000269|PubMed:17027977, ECO:0000269|PubMed:21899694}.


uniprotID: Q9P2D1
geneSymbol: CHD7
pdb: 2CKC;2V0E;2V0F;
name: Chromodomain-helicase-DNA-binding protein 7 (CHD-7) (EC 3.6.4.12) (ATP-dependent helicase CHD7)
length: 2997
go: ENSG00000171316;
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; helicase activity [GO:0004386]; promoter-specific chromatin binding [GO:1990841]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; adult heart development [GO:0007512]; adult walking behavior [GO:0007628]; aorta morphogenesis [GO:0035909]; atrioventricular canal development [GO:0036302]; blood circulation [GO:0008015]; blood vessel remodeling [GO:0001974]; cardiac septum morphogenesis [GO:0060411]; central nervous system development [GO:0007417]; chromatin remodeling [GO:0006338]; cognition [GO:0050890]; cranial nerve development [GO:0021545]; embryonic hindlimb morphogenesis [GO:0035116]; epithelium development [GO:0060429]; face development [GO:0060324]; female genitalia development [GO:0030540]; genitalia development [GO:0048806]; heart morphogenesis [GO:0003007]; in utero embryonic development [GO:0001701]; inner ear morphogenesis [GO:0042472]; innervation [GO:0060384]; limb development [GO:0060173]; nose development [GO:0043584]; olfactory behavior [GO:0042048]; olfactory bulb development [GO:0021772]; olfactory nerve development [GO:0021553]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of growth hormone secretion [GO:0060123]; regulation of neurogenesis [GO:0050767]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of transcription, DNA-templated [GO:0006355]; response to bacterium [GO:0009617]; retina development in camera-type eye [GO:0060041]; right ventricular compact myocardium morphogenesis [GO:0003226]; rRNA processing [GO:0006364]; secondary palate development [GO:0062009]; semicircular canal morphogenesis [GO:0048752]; sensory perception of sound [GO:0007605]; skeletal system development [GO:0001501]; T cell differentiation [GO:0030217]; ventricular trabecula myocardium morphogenesis [GO:0003222]

snps:
rs1416709395 rs756851968 rs121434345 rs767819417 rs398124317 rs779024959 rs41272435 rs372110761 rs61742851 rs764496155 rs200898742 rs200898742 rs61995713 rs41305525 rs766747354 rs772369092 rs71640285 rs142962579 rs78962949 rs746837682 rs529321177 rs756365280 rs141947938 rs202208393 rs61978638 rs121434344 rs377662366 rs1165711448 rs370194460 rs117506164 rs587783435 rs768481542 rs1057521077 rs121434338 rs886041167 rs886040988 rs121434339 rs864309609 rs373301291 rs773187713 rs886040993 rs61737194 rs759918327 rs201423234 rs1013310877 rs886063038 rs201083157 rs587783451 rs794727555 rs121434343 rs758409717 rs61753399 rs374408098 rs200806228 rs121434341 rs121434341 rs77704609 rs41315633 rs398124324 rs755492299 rs547209998 rs192129249 rs747082615 rs201319489 rs1373315351 rs113877656 rs370231679 rs3750308 rs775132352 rs200140270 rs45521933 rs113938624 rs370271088 rs184814820 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=CHD7L; IsoId=Q9P2D1-1; Sequence=Displayed; Name=2; IsoId=Q9P2D1-2; Sequence=VSP_026038, VSP_026039; Note=May be due to an intron retention.; Name=3; Synonyms=CHD7S; IsoId=Q9P2D1-3; Sequence=VSP_046564, VSP_046565; Note=Ubiquitous, expression enriched in lung and large intestine.; Name=4; IsoId=Q9P2D1-4; Sequence=VSP_046563; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:20453063}.; SUBCELLULAR LOCATION: Isoform 3: Nucleus, nucleolus {ECO:0000269|PubMed:22646239}.


uniprotID: O43186
geneSymbol: CRX
name: Cone-rod homeobox protein
length: 299
go: ENSG00000105392;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; leucine zipper domain binding [GO:0043522]; nuclear hormone receptor binding [GO:0035257]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; animal organ morphogenesis [GO:0009887]; circadian rhythm [GO:0007623]; positive regulation of photoreceptor cell differentiation [GO:0046534]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

snps:
rs139340178 rs61748436 rs104894672 rs863224863 rs61748438 rs104894671 rs104894673 rs750727986 rs61748441 rs763651232 rs61748445 rs61748459 


uniprotID: Q3L8U1
geneSymbol: CHD9
length: 2897
go: ENSG00000177200;
snps: rs6499548
reactome:
R-HSA-1368082;R-HSA-1368108;R-HSA-1989781;R-HSA-2151201;R-HSA-2426168;R-HSA-381340;R-HSA-400206;R-HSA-400253;

name:
Chromodomain-helicase-DNA-binding protein 9 (CHD-9) (EC 3.6.4.12) (ATP-dependent helicase CHD9) (Chromatin-related mesenchymal modulator) (CReMM) (Chromatin-remodeling factor CHROM1) (Kismet homolog 2) (PPAR-alpha-interacting complex protein 320 kDa) (Peroxisomal proliferator-activated receptor A-interacting complex 320 kDa protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; chromatin organization [GO:0006325]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3L8U1-1; Sequence=Displayed; Name=2; IsoId=Q3L8U1-2; Sequence=VSP_018086; Name=3; IsoId=Q3L8U1-3; Sequence=VSP_018085, VSP_018086; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16095617}. Nucleus {ECO:0000269|PubMed:16095617}.


uniprotID: P22914
geneSymbol: CRYGS
pdb: 1HA4;2M3T;2M3U;
name: Gamma-crystallin S (Beta-crystallin S) (Gamma-S-crystallin)
length: 178
go: ENSG00000213139;
snps: rs104893736
sequence:
MSKTGTKITFYEDKNFQGRRYDCDCDCADFHTYLSRCNSIKVEGGTWAVYERPNFAGYMYILPQGEYPEYQRWMGLNDRLSSCRAVHLPSGGQYKIQIFEKGDFSGQMYETTEDCPSIMEQFHMREIHSCKVLEGVWIFYELPNYRGRQYLLDKKEYRKPIDWGAASPAVQSFRRIVE

opentargets:
structural constituent of eye lens [GO:0005212]; lens development in camera-type eye [GO:0002088]; morphogenesis of an epithelium [GO:0002009]


uniprotID: Q9Y2S2
geneSymbol: CRYL1
reactome: R-HSA-5661270;
pdb: 3F3S;
name: Lambda-crystallin homolog (EC 1.1.1.45) (L-gulonate 3-dehydrogenase) (Gul3DH)
length: 319
go: ENSG00000165475;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; 3-hydroxyacyl-CoA dehydrogenase activity [GO:0003857]; L-gulonate 3-dehydrogenase activity [GO:0050104]; NAD+ binding [GO:0070403]; protein homodimerization activity [GO:0042803]; fatty acid metabolic process [GO:0006631]; glucuronate catabolic process to xylulose 5-phosphate [GO:0019640]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2S2-1; Sequence=Displayed; Name=2; IsoId=Q9Y2S2-2; Sequence=VSP_034641; 


uniprotID: A0A1B0GTH6
geneSymbol: CSNKA2IP
name: Casein kinase II subunit alpha'-interacting protein
length: 734
go: ENSG00000283434;
opentargets: nucleus [GO:0005634]
sequence:

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8CH19}. Note=Present in nuclei of spermatids during chromatin condensation. {ECO:0000250|UniProtKB:Q8CH19}.


uniprotID: Q6PB30
geneSymbol: CSAG1
sequence: MSATTACWPAFTVLGEARGDQVDWSRLYRDTGLVKMSRKPRASSPFSNNHPSTPKRFPRQPRREKGPVKEVPGTKGSP
length: 78
go: ENSG00000198930;
snps: rs1894359 rs2515848
name:
Putative chondrosarcoma-associated gene 1 protein (Cancer/testis antigen 24.1) (CT24.1) (Cancer/testis antigen CSAGE)

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CSAG1a; IsoId=Q6PB30-1; Sequence=Displayed; Name=2; Synonyms=CSAG1c; IsoId=Q6PB30-2; Sequence=VSP_026267; 


uniprotID: Q8IWX8
geneSymbol: CHERP
reactome: R-HSA-72163;
length: 916
go: ENSG00000085872;
snps: rs1043448
name:
Calcium homeostasis endoplasmic reticulum protein (ERPROT 213-21) (SR-related CTD-associated factor 6)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; sarcoplasmic reticulum membrane [GO:0033017]; ion channel binding [GO:0044325]; RNA binding [GO:0003723]; cellular calcium ion homeostasis [GO:0006874]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of cell proliferation [GO:0008285]; nervous system development [GO:0007399]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; release of sequestered calcium ion into cytosol [GO:0051209]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10794731, ECO:0000269|PubMed:12656674, ECO:0000269|PubMed:8010949}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:10794731, ECO:0000269|PubMed:12656674, ECO:0000269|PubMed:8010949}. Endoplasmic reticulum {ECO:0000269|PubMed:10794731, ECO:0000269|PubMed:12656674, ECO:0000269|PubMed:8010949}. Note=Distributed throughout the cytoplasm and also localizes to the perinuclear region of both human erythroleukemia (HEL) cells and Jurkat cells. Colocalizes with ITPR1. {ECO:0000269|PubMed:10794731, ECO:0000269|PubMed:12656674, ECO:0000269|PubMed:8010949}.


uniprotID: O94886
geneSymbol: TMEM63A
reactome: R-HSA-6798695;
name: CSC1-like protein 1 (Transmembrane protein 63A)
length: 807
go: ENSG00000196187;
snps: rs57306966 rs1009668
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; microtubule organizing center [GO:0005815]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; calcium activated cation channel activity [GO:0005227]; nucleic acid binding [GO:0003676]; neutrophil degranulation [GO:0043312]

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:20957757}; Multi-pass membrane protein {ECO:0000269|PubMed:20957757}.


uniprotID: Q9Y534
geneSymbol: CSDC2
name: Cold shock domain-containing protein C2 (RNA-binding protein PIPPin)
length: 153
go: ENSG00000172346;
sequence:
MTSESTSPPVVPPLHSPKSPVWPTFPFHREGSRVWERGGVPPRDLPSPLPTKRTRTYSATARASAGPVFKGVCKQFSRSQGHGFITPENGSEDIFVHVSDIEGEYVPVEGDEVTYKMCPIPPKNQKFQAVEVVLTQLAPHTPHETWSGQVVGS

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; mRNA 3'-UTR binding [GO:0003730]; RNA binding [GO:0003723]; transcription factor binding [GO:0008134]; mRNA processing [GO:0006397]; regulation of mRNA stability [GO:0043488]; regulation of transcription, DNA-templated [GO:0006355]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=PIPPin-RNA complexes are located to the nucleus. {ECO:0000250}.


uniprotID: O75052
geneSymbol: NOS1AP
length: 506
go: ENSG00000198929;
name:
Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (C-terminal PDZ ligand of neuronal nitric oxide synthase protein) (Nitric oxide synthase 1 adaptor protein)

sequence:

opentargets:
caveola [GO:0005901]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; sarcolemma [GO:0042383]; sarcoplasmic reticulum membrane [GO:0033017]; T-tubule [GO:0030315]; Z disc [GO:0030018]; nitric-oxide synthase binding [GO:0050998]; positive regulation of delayed rectifier potassium channel activity [GO:1902261]; positive regulation of gene expression [GO:0010628]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of nitric oxide mediated signal transduction [GO:0010750]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of peptidyl-cysteine S-nitrosylation [GO:2000170]; positive regulation of potassium ion transmembrane transport [GO:1901381]; positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization [GO:1903762]; postsynaptic actin cytoskeleton organization [GO:0098974]; regulation of calcium ion transmembrane transport via high voltage-gated calcium channel [GO:1902514]; regulation of cardiac muscle cell action potential [GO:0098901]; regulation of heart rate by chemical signal [GO:0003062]; regulation of high voltage-gated calcium channel activity [GO:1901841]; regulation of nitric oxide biosynthetic process [GO:0045428]; regulation of nitric-oxide synthase activity [GO:0050999]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75052-1; Sequence=Displayed; Name=2; IsoId=O75052-2; Sequence=VSP_042751, VSP_042752; Name=3; IsoId=O75052-3; Sequence=VSP_043350; Note=No experimental confirmation available.; 


uniprotID: P0DP24
geneSymbol: CALM2
pdb: 3O77;3O78;5COC;5J03;5NIN;5VMS;5WSU;5WSV;
name: Calmodulin-2
length: 149
go: ENSG00000143933;ENSG00000160014;ENSG00000198668;
snps: rs730882254 rs398124647 rs398124647 rs730882252 rs398124648 rs398124650 rs398124649
sequence:
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK

opentargets:
calcium channel complex [GO:0034704]; catalytic complex [GO:1902494]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; sarcomere [GO:0030017]; spindle microtubule [GO:0005876]; spindle pole [GO:0000922]; vesicle [GO:0031982]; voltage-gated potassium channel complex [GO:0008076]; adenylate cyclase activator activity [GO:0010856]; adenylate cyclase binding [GO:0008179]; calcium channel inhibitor activity [GO:0019855]; calcium ion binding [GO:0005509]; disordered domain specific binding [GO:0097718]; ion channel binding [GO:0044325]; N-terminal myristoylation domain binding [GO:0031997]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; protein phosphatase activator activity [GO:0072542]; protein serine/threonine kinase activator activity [GO:0043539]; titin binding [GO:0031432]; detection of calcium ion [GO:0005513]; G protein-coupled receptor signaling pathway [GO:0007186]; G2/M transition of mitotic cell cycle [GO:0000086]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; negative regulation of ryanodine-sensitive calcium-release channel activity [GO:0060315]; positive regulation by host of symbiont cAMP-mediated signal transduction [GO:0075206]; positive regulation of cyclic-nucleotide phosphodiesterase activity [GO:0051343]; positive regulation of DNA binding [GO:0043388]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; positive regulation of protein autophosphorylation [GO:0031954]; positive regulation of protein dephosphorylation [GO:0035307]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of ryanodine-sensitive calcium-release channel activity [GO:0060316]; regulation of cardiac muscle contraction [GO:0055117]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cell communication by electrical coupling involved in cardiac conduction [GO:1901844]; regulation of cytokinesis [GO:0032465]; regulation of heart rate [GO:0002027]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; response to calcium ion [GO:0051592]; substantia nigra development [GO:0021762]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16760425}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16760425}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Note=Distributed throughout the cell during interphase, but during mitosis becomes dramatically localized to the spindle poles and the spindle microtubules.


uniprotID: Q12864
geneSymbol: CDH17
reactome: R-HSA-418990;
length: 832
go: ENSG00000079112;
snps: rs2243518 rs1131829 rs1051623 rs1051624
name:
Cadherin-17 (Intestinal peptide-associated transporter HPT-1) (Liver-intestine cadherin) (LI-cadherin)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; catenin complex [GO:0016342]; cell junction [GO:0030054]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; integrin binding [GO:0005178]; protein homodimerization activity [GO:0042803]; proton-dependent oligopeptide secondary active transmembrane transporter activity [GO:0005427]; transporter activity [GO:0005215]; 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]; germinal center B cell differentiation [GO:0002314]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; integrin-mediated signaling pathway [GO:0007229]; marginal zone B cell differentiation [GO:0002315]; oligopeptide transmembrane transport [GO:0035672]; oligopeptide transport [GO:0006857]; positive regulation of integrin activation by cell surface receptor linked signal transduction [GO:0033626]; spleen development [GO:0048536]


uniprotID: P55286
geneSymbol: CDH8
reactome: R-HSA-418990;
name: Cadherin-8
length: 799
go: ENSG00000150394;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
axon terminus [GO:0043679]; catenin complex [GO:0016342]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; synaptic cleft [GO:0043083]; synaptic membrane [GO:0097060]; 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]; regulation of synapse organization [GO:0050807]; response to cold [GO:0009409]; synaptic transmission, glutamatergic [GO:0035249]


uniprotID: P56539
geneSymbol: CAV3
reactome: R-HSA-445355;
name: Caveolin-3 (M-caveolin)
length: 151
go: ENSG00000182533;
sequence:
MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVCSSIKVVLRKEV

opentargets:
caveola [GO:0005901]; cell surface [GO:0009986]; dystrophin-associated glycoprotein complex [GO:0016010]; endoplasmic reticulum [GO:0005783]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; intercalated disc [GO:0014704]; intracellular membrane-bounded organelle [GO:0043231]; membrane raft [GO:0045121]; neuromuscular junction [GO:0031594]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; T-tubule [GO:0030315]; vesicle [GO:0031982]; Z disc [GO:0030018]; alpha-tubulin binding [GO:0043014]; calcium channel regulator activity [GO:0005246]; connexin binding [GO:0071253]; ion channel binding [GO:0044325]; nitric-oxide synthase binding [GO:0050998]; potassium channel inhibitor activity [GO:0019870]; protein C-terminus binding [GO:0008022]; protein-containing complex binding [GO:0044877]; protein-containing complex scaffold activity [GO:0032947]; sodium channel regulator activity [GO:0017080]; structural molecule activity [GO:0005198]; actin filament organization [GO:0007015]; cardiac muscle cell development [GO:0055013]; caveola assembly [GO:0070836]; cell differentiation [GO:0030154]; cellular response to organonitrogen compound [GO:0071417]; cholesterol homeostasis [GO:0042632]; cytoplasmic microtubule organization [GO:0031122]; detection of muscle stretch [GO:0035995]; endocytosis [GO:0006897]; glucose homeostasis [GO:0042593]; heart trabecula formation [GO:0060347]; membrane raft organization [GO:0031579]; muscle cell cellular homeostasis [GO:0046716]; muscle contraction [GO:0006936]; muscle organ development [GO:0007517]; myoblast fusion [GO:0007520]; negative regulation of calcium ion transport [GO:0051926]; negative regulation of cardiac muscle hypertrophy [GO:0010614]; negative regulation of cell growth involved in cardiac muscle cell development [GO:0061052]; negative regulation of cell size [GO:0045792]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of membrane depolarization during cardiac muscle cell action potential [GO:1900826]; negative regulation of nitric-oxide synthase activity [GO:0051001]; negative regulation of potassium ion transmembrane transport [GO:1901380]; negative regulation of potassium ion transmembrane transporter activity [GO:1901017]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein localization to cell surface [GO:2000009]; negative regulation of sarcomere organization [GO:0060299]; nucleus localization [GO:0051647]; plasma membrane organization [GO:0007009]; plasma membrane repair [GO:0001778]; positive regulation of caveolin-mediated endocytosis [GO:2001288]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of myotube differentiation [GO:0010831]; positive regulation of ubiquitin-dependent protein catabolic process [GO:2000060]; protein localization [GO:0008104]; protein localization to plasma membrane [GO:0072659]; regulation of branching involved in mammary gland duct morphogenesis [GO:0060762]; regulation of calcium ion import [GO:0090279]; regulation of calcium ion transmembrane transporter activity [GO:1901019]; regulation of cardiac muscle cell action potential involved in regulation of contraction [GO:0098909]; regulation of cardiac muscle contraction [GO:0055117]; regulation of heart contraction [GO:0008016]; regulation of heart rate [GO:0002027]; regulation of membrane depolarization during cardiac muscle cell action potential [GO:1900825]; regulation of membrane potential [GO:0042391]; regulation of nerve growth factor receptor activity [GO:0051394]; regulation of p38MAPK cascade [GO:1900744]; regulation of protein kinase B signaling [GO:0051896]; regulation of signal transduction by receptor internalization [GO:0038009]; regulation of skeletal muscle contraction [GO:0014819]; regulation of sodium ion transmembrane transporter activity [GO:2000649]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; regulation of ventricular cardiac muscle cell membrane depolarization [GO:0060373]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; T-tubule organization [GO:0033292]; triglyceride metabolic process [GO:0006641]; ventricular cardiac muscle cell action potential [GO:0086005]

snps:
rs121909281 rs116840778 rs116840782 rs116840786 rs1008642 rs116840788 rs116840789 rs116840773 rs116840794 rs72546667 rs116840795 rs116840796 rs199476332 rs121909280 rs116840776 rs72546668 rs121909282 rs104893715 rs28936685 rs28936686 rs104893714 rs116840805 rs116840777 rs104893713 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell membrane {ECO:0000250|UniProtKB:P51638}; Peripheral membrane protein {ECO:0000250}. Membrane, caveola {ECO:0000250|UniProtKB:P51637}; Peripheral membrane protein {ECO:0000250}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P51637}. Note=Potential hairpin-like structure in the membrane. Membrane protein of caveolae (By similarity). {ECO:0000250}.


uniprotID: O14548
geneSymbol: COX7A2L
reactome: R-HSA-5628897;R-HSA-611105;
length: 114
go: ENSG00000115944;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}.
name:
Cytochrome c oxidase subunit 7A-related protein, mitochondrial (COX7a-related protein) (Cytochrome c oxidase subunit VIIa-related protein) (EB1)

sequence:
MYYKFSGFTQKLAGAWASEAYSPQGLKPVVSTEAPPIIFATPTKLTSDSTVYDYAGKNKVPELQKFFQKADGVPVYLKRGLPDQMLYRTTMALTVGGTIYCLIALYMASQPKNK

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain [GO:0005746]; mitochondrial respiratory chain supercomplex [GO:0097249]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; cytochrome-c oxidase activity [GO:0004129]; mitochondrial respiratory chain supercomplex assembly [GO:0097250]; regulation of oxidative phosphorylation [GO:0002082]


uniprotID: Q7Z4L0
geneSymbol: COX8C
sequence: MPLLRGRCPARRHYRRLALLGLQPAPRFAHSGPPRQRPLSAAEMAVGLVVFFTTFLTPAAYVLGNLKQFRRN
length: 72
go: ENSG00000187581;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
Cytochrome c oxidase subunit 8C, mitochondrial (Cytochrome c oxidase polypeptide 8 isoform 3) (Cytochrome c oxidase polypeptide VIII isoform 3) (COX VIII-3) (Cytochrome c oxidase subunit 8-3) (COX8-3) (Cytochrome c oxidase subunit VIIIC)

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; respiratory chain complex IV [GO:0045277]; cytochrome-c oxidase activity [GO:0004129]


uniprotID: Q6UXH8
geneSymbol: CCBE1
name: Collagen and calcium-binding EGF domain-containing protein 1 (Full of fluid protein homolog)
length: 406
go: ENSG00000183287;
snps: rs121908250 rs121908251 rs121908253 rs121908254 rs11659589 rs121908252
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; collagen binding [GO:0005518]; protease binding [GO:0002020]; lymphangiogenesis [GO:0001946]; positive regulation of protein processing [GO:0010954]; positive regulation of vascular endothelial growth factor production [GO:0010575]; positive regulation of vascular endothelial growth factor signaling pathway [GO:1900748]; sprouting angiogenesis [GO:0002040]; venous blood vessel morphogenesis [GO:0048845]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UXH8-1; Sequence=Displayed; Name=2; IsoId=Q6UXH8-2; Sequence=VSP_023470, VSP_023471; Note=No experimental confirmation available.; Name=3; IsoId=Q6UXH8-3; Sequence=VSP_023469; Note=No experimental confirmation available.; 


uniprotID: Q502W7
geneSymbol: CCDC38
name: Coiled-coil domain-containing protein 38
length: 563
go: ENSG00000165972;
opentargets: centrosome [GO:0005813]; cytoplasm [GO:0005737]
snps: rs12368787 rs10859974
sequence:


uniprotID: P10966
geneSymbol: CD8B
reactome: R-HSA-182218;R-HSA-198933;
name: T-cell surface glycoprotein CD8 beta chain (CD antigen CD8b)
length: 210
go: ENSG00000172116;
sequence:

opentargets:
early endosome membrane [GO:0031901]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; T cell receptor complex [GO:0042101]; coreceptor activity [GO:0015026]; MHC class I protein binding [GO:0042288]; adaptive immune response [GO:0002250]; immune response [GO:0006955]; regulation of defense response to virus by virus [GO:0050690]; regulation of immune response [GO:0050776]; T cell activation [GO:0042110]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=M-1, Mbeta1; IsoId=P10966-1; Sequence=Displayed; Name=2; Synonyms=M-3, Mbeta2; IsoId=P10966-2; Sequence=VSP_002490; Name=3; Synonyms=S-1, Sbeta3; IsoId=P10966-3; Sequence=VSP_002492, VSP_002493; Name=4; Synonyms=M-2; IsoId=P10966-4; Sequence=VSP_002491; Name=5; Synonyms=Mbeta3; IsoId=P10966-6; Sequence=VSP_002493; Name=6; Synonyms=Sbeta1; IsoId=P10966-7; Sequence=VSP_002492; Name=7; Synonyms=Sbeta4; IsoId=P10966-8; Sequence=VSP_039654; Name=8; Synonyms=Sbeta5; IsoId=P10966-9; Sequence=VSP_039655; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:11714755, ECO:0000269|PubMed:3145196}; Single-pass type I membrane protein {ECO:0000305}. Note=Requires the partner CD8A for efficient cell surface expression (PubMed:3145196). The heterodimer CD8A/CD8B localizes to lipid rafts due to CD8B cytoplasmic tail palmitoylation. {ECO:0000269|PubMed:10925291, ECO:0000269|PubMed:11714755, ECO:0000269|PubMed:3145196}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 5: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 6: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 7: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 8: Secreted {ECO:0000305}.


uniprotID: Q13319
geneSymbol: CDK5R2
length: 367
go: ENSG00000171450;
name:
Cyclin-dependent kinase 5 activator 2 (CDK5 activator 2) (Cyclin-dependent kinase 5 regulatory subunit 2) (p39) (p39I)

sequence:

opentargets:
cytoplasm [GO:0005737]; growth cone [GO:0030426]; membrane [GO:0016020]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; protein kinase 5 complex [GO:0016533]; actin binding [GO:0003779]; cyclin-dependent protein kinase 5 activator activity [GO:0016534]; lipid binding [GO:0008289]; cerebellum development [GO:0021549]; hippocampus development [GO:0021766]; layer formation in cerebral cortex [GO:0021819]; neuron migration [GO:0001764]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; superior olivary nucleus maturation [GO:0021722]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18507738}; Lipid-anchor {ECO:0000269|PubMed:18507738}; Cytoplasmic side {ECO:0000269|PubMed:18507738}.


uniprotID: P48509
geneSymbol: CD151
reactome: R-HSA-2022090;R-HSA-446107;
length: 253
go: ENSG00000177697;
snps: rs34215390 rs779114765
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
CD151 antigen (GP27) (Membrane glycoprotein SFA-1) (Platelet-endothelial tetraspan antigen 3) (PETA-3) (Tetraspanin-24) (Tspan-24) (CD antigen CD151)

sequence:

opentargets:
basement membrane [GO:0005604]; cell surface [GO:0009986]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; integrin binding [GO:0005178]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; hemidesmosome assembly [GO:0031581]; positive regulation of cell migration [GO:0030335]; positive regulation of endocytosis [GO:0045807]; T cell proliferation [GO:0042098]; wound healing, spreading of cells [GO:0044319]


uniprotID: P08962
geneSymbol: CD63
reactome: R-HSA-114608;R-HSA-6798695;
length: 238
go: ENSG00000135404;
name:
CD63 antigen (Granulophysin) (Lysosomal-associated membrane protein 3) (LAMP-3) (Melanoma-associated antigen ME491) (OMA81H) (Ocular melanoma-associated antigen) (Tetraspanin-30) (Tspan-30) (CD antigen CD63)

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; cell surface [GO:0009986]; endosome lumen [GO:0031904]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; intrinsic component of plasma membrane [GO:0031226]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; melanosome [GO:0042470]; multivesicular body membrane [GO:0032585]; multivesicular body, internal vesicle [GO:0097487]; plasma membrane [GO:0005886]; platelet dense granule membrane [GO:0031088]; cell migration [GO:0016477]; cell surface receptor signaling pathway [GO:0007166]; cell-matrix adhesion [GO:0007160]; cellular protein localization [GO:0034613]; endosome to melanosome transport [GO:0035646]; neutrophil degranulation [GO:0043312]; pigment granule maturation [GO:0048757]; platelet degranulation [GO:0002576]; positive regulation of endocytosis [GO:0045807]; positive regulation of integrin-mediated signaling pathway [GO:2001046]; positive regulation of receptor internalization [GO:0002092]; protein transport [GO:0015031]; regulation of potassium ion transmembrane transport [GO:1901379]; regulation of vascular endothelial growth factor signaling pathway [GO:1900746]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P08962-1; Sequence=Displayed; Name=2; IsoId=P08962-2; Sequence=VSP_045300; Name=3; IsoId=P08962-3; Sequence=VSP_046996; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15351990, ECO:0000269|PubMed:19640571, ECO:0000269|PubMed:23632027}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:19640571, ECO:0000269|PubMed:1993697, ECO:0000269|PubMed:22431521, ECO:0000269|PubMed:23632027}; Multi-pass membrane protein {ECO:0000255}. Late endosome membrane {ECO:0000269|PubMed:10793155, ECO:0000269|PubMed:23632027}; Multi-pass membrane protein {ECO:0000255}. Endosome, multivesicular body {ECO:0000269|PubMed:21962903}. Melanosome {ECO:0000269|PubMed:21962903}. Secreted, exosome {ECO:0000269|PubMed:22660413}. Cell surface {ECO:0000269|PubMed:16917503, ECO:0000269|PubMed:23632027, ECO:0000269|PubMed:24635319}. Note=Also found in Weibel-Palade bodies of endothelial cells (PubMed:10793155). Located in platelet dense granules (PubMed:7682577). Detected in a subset of pre-melanosomes. Detected on intralumenal vesicles (ILVs) within multivesicular bodies (PubMed:21962903). {ECO:0000269|PubMed:10793155, ECO:0000269|PubMed:21962903, ECO:0000269|PubMed:7682577}.


uniprotID: P11912
geneSymbol: CD79A
reactome: R-HSA-5690714;R-HSA-983695;
pdb: 1CV9;
length: 226
go: ENSG00000105369;
name:
B-cell antigen receptor complex-associated protein alpha chain (Ig-alpha) (MB-1 membrane glycoprotein) (Membrane-bound immunoglobulin-associated protein) (Surface IgM-associated protein) (CD antigen CD79a)

sequence:

opentargets:
B cell receptor complex [GO:0019815]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; multivesicular body [GO:0005771]; plasma membrane [GO:0005886]; protein homodimerization activity [GO:0042803]; transmembrane signaling receptor activity [GO:0004888]; adaptive immune response [GO:0002250]; B cell activation [GO:0042113]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; B cell receptor signaling pathway [GO:0050853]; protein homotetramerization [GO:0051289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=P11912-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P11912-2; Sequence=VSP_002476; 

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: Q9BZW8
geneSymbol: CD244
reactome: R-HSA-202733;
length: 370
go: ENSG00000122223;
snps: rs34846692 rs12064925
name:
Natural killer cell receptor 2B4 (NK cell activation-inducing ligand) (NAIL) (NK cell type I receptor protein 2B4) (NKR2B4) (h2B4) (SLAM family member 4) (SLAMF4) (Signaling lymphocytic activation molecule 4) (CD antigen CD244)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; MHC class I protein binding [GO:0042288]; signaling receptor activity [GO:0038023]; adaptive immune response [GO:0002250]; innate immune response [GO:0045087]; leukocyte migration [GO:0050900]; natural killer cell activation involved in immune response [GO:0002323]; positive regulation of granzyme B production [GO:0071663]; positive regulation of inositol phosphate biosynthetic process [GO:0060732]; positive regulation of interferon-gamma secretion [GO:1902715]; positive regulation of interleukin-8 secretion [GO:2000484]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=H2B4-B; IsoId=Q9BZW8-1; Sequence=Displayed; Name=2; Synonyms=H2B4-A; IsoId=Q9BZW8-2; Sequence=VSP_010397; Note=Binds to CD48 with a sronger affinity than isoform 1, and interactions induces greater cytotoxicity and intracellular calcium release.; Name=3; Synonyms=H2B4; IsoId=Q9BZW8-3; Sequence=VSP_010397, VSP_010399, VSP_010400; Note=No experimental confirmation available.; Name=4; Synonyms=H2B4b; IsoId=Q9BZW8-4; Sequence=VSP_010398; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell membrane {ECO:0000305}. Note=Receptor engagement results in a recruitment to lipid drafts essential for the subsequent tyrosine phosphorylation of the ITSMs. {ECO:0000269|PubMed:11034353}.


uniprotID: P33681
geneSymbol: CD80
pdb: 1DR9;1I8L;
length: 288
go: ENSG00000121594;
drug: DB01281;DB06681;DB04901;
location: SUBCELLULAR LOCATION: 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 CD80 (Activation B7-1 antigen) (BB1) (CTLA-4 counter-receptor B7.1) (B7) (CD antigen CD80)

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; protein complex involved in cell adhesion [GO:0098636]; coreceptor activity [GO:0015026]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; virus receptor activity [GO:0001618]; cell surface receptor signaling pathway [GO:0007166]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; intracellular signal transduction [GO:0035556]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process [GO:0045425]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of signal transduction [GO:0009967]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of T-helper 1 cell differentiation [GO:0045627]; 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=3;  Name=1; IsoId=P33681-1; Sequence=Displayed; Name=2; Synonyms=s1CD80; IsoId=P33681-2; Sequence=VSP_047700; Note=Soluble isoform. Expressed in unstimulated B-cells and monocytes, but not T-cells.; Name=3; Synonyms=s2CD80; IsoId=P33681-3; Sequence=VSP_047698, VSP_047699; Note=Soluble isoform. Expressed in T-cells activated by ConA, non-activated monocytes and monocytes activated with IFN-c.; 


uniprotID: Q9BWV3
geneSymbol: CDADC1
name: Cytidine and dCMP deaminase domain-containing protein 1 (Testis development protein NYD-SP15)
length: 514
go: ENSG00000102543;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cytidine deaminase activity [GO:0004126]; dCMP deaminase activity [GO:0004132]; importin-alpha family protein binding [GO:0061676]; protein homodimerization activity [GO:0042803]; zinc ion binding [GO:0008270]; cytidine deamination [GO:0009972]; DNA cytosine deamination [GO:0070383]; dTMP biosynthetic process [GO:0006231]; dUMP biosynthetic process [GO:0006226]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BWV3-1; Sequence=Displayed; Name=2; IsoId=Q9BWV3-2; Sequence=VSP_027812, VSP_027813; Name=3; IsoId=Q9BWV3-3; Sequence=VSP_027814, VSP_027815; Name=4; IsoId=Q9BWV3-4; Sequence=VSP_027811; 


uniprotID: Q9NPF0
geneSymbol: CD320
reactome: R-HSA-196741;R-HSA-3359485;
pdb: 4ZRP;4ZRQ;
length: 282
go: ENSG00000167775;
snps: rs2232775 rs2336573
name:
CD320 antigen (8D6 antigen) (FDC-signaling molecule 8D6) (FDC-SM-8D6) (Transcobalamin receptor) (TCblR) (CD antigen CD320)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endosome membrane [GO:0010008]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; cobalamin binding [GO:0031419]; cobalamin-transporting ATPase activity [GO:0015420]; growth factor activity [GO:0008083]; B cell costimulation [GO:0031296]; cobalamin metabolic process [GO:0009235]; cobalamin transport [GO:0015889]; positive regulation of B cell proliferation [GO:0030890]; regulation of vitamin metabolic process [GO:0030656]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPF0-1; Sequence=Displayed; Name=2; IsoId=Q9NPF0-2; Sequence=VSP_045368; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10727470, ECO:0000269|PubMed:11418631, ECO:0000305|PubMed:18779389}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: Q96LL4
geneSymbol: C8orf48
name: Uncharacterized protein C8orf48
length: 319
go: ENSG00000164743;
snps: rs13273355 rs11203497
sequence:


uniprotID: P10809
geneSymbol: HSPD1
reactome: R-HSA-1268020;R-HSA-8869496;
pdb: 4PJ1;
length: 573
go: ENSG00000144381;
snps: rs72466451 rs66468541
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
60 kDa heat shock protein, mitochondrial (EC 3.6.4.9) (60 kDa chaperonin) (Chaperonin 60) (CPN60) (Heat shock protein 60) (HSP-60) (Hsp60) (HuCHA60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein)

sequence:

opentargets:
cell surface [GO:0009986]; clathrin-coated pit [GO:0005905]; coated vesicle [GO:0030135]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; lipopolysaccharide receptor complex [GO:0046696]; membrane [GO:0016020]; membrane raft [GO:0045121]; mitochondrial crista [GO:0030061]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; peroxisomal matrix [GO:0005782]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; rough endoplasmic reticulum [GO:0005791]; secretory granule [GO:0030141]; zymogen granule [GO:0042588]; apolipoprotein A-I binding [GO:0034186]; apolipoprotein binding [GO:0034185]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; chaperone binding [GO:0051087]; DNA replication origin binding [GO:0003688]; double-stranded RNA binding [GO:0003725]; enzyme binding [GO:0019899]; high-density lipoprotein particle binding [GO:0008035]; insulin binding [GO:0043559]; lipopolysaccharide binding [GO:0001530]; modification-dependent protein binding [GO:0140030]; p53 binding [GO:0002039]; protease binding [GO:0002020]; protein heterodimerization activity [GO:0046982]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; 'de novo' protein folding [GO:0006458]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic mitochondrial changes [GO:0008637]; B cell activation [GO:0042113]; B cell cytokine production [GO:0002368]; B cell proliferation [GO:0042100]; cellular response to heat [GO:0034605]; chaperone-mediated protein complex assembly [GO:0051131]; interaction with symbiont [GO:0051702]; isotype switching to IgG isotypes [GO:0048291]; mitochondrion organization [GO:0007005]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of apoptotic process [GO:0043066]; negative regulation of apoptotic process in bone marrow [GO:0071866]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of reactive oxygen species biosynthetic process [GO:1903427]; positive regulation of apoptotic process [GO:0043065]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interferon-alpha production [GO:0032727]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of macrophage activation [GO:0043032]; positive regulation of T cell activation [GO:0050870]; positive regulation of T cell mediated immune response to tumor cell [GO:0002842]; positive regulation of tumor necrosis factor secretion [GO:1904469]; protein import into mitochondrial intermembrane space [GO:0045041]; protein maturation [GO:0051604]; protein refolding [GO:0042026]; protein stabilization [GO:0050821]; regulation of transcription by RNA polymerase II [GO:0006357]; response to activity [GO:0014823]; response to ATP [GO:0033198]; response to cocaine [GO:0042220]; response to cold [GO:0009409]; response to estrogen [GO:0043627]; response to glucocorticoid [GO:0051384]; response to hydrogen peroxide [GO:0042542]; response to hypoxia [GO:0001666]; response to ischemia [GO:0002931]; response to lipopolysaccharide [GO:0032496]; response to unfolded protein [GO:0006986]; T cell activation [GO:0042110]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P10809-1; Sequence=Displayed; Name=2; IsoId=P10809-2; Sequence=VSP_056144, VSP_056145; Note=No experimental confirmation available.; 


uniprotID: Q16526
geneSymbol: CRY1
reactome: R-HSA-400253;
name: Cryptochrome-1
length: 586
go: ENSG00000008405;
sequence:

opentargets:
mitochondrion [GO:0005739]; nucleus [GO:0005634]; blue light photoreceptor activity [GO:0009882]; DNA binding [GO:0003677]; double-stranded DNA binding [GO:0003690]; E-box binding [GO:0070888]; histone deacetylase binding [GO:0042826]; nuclear hormone receptor binding [GO:0035257]; nucleotide binding [GO:0000166]; phosphatase binding [GO:0019902]; protein kinase binding [GO:0019901]; blue light signaling pathway [GO:0009785]; circadian regulation of gene expression [GO:0032922]; DNA damage induced protein phosphorylation [GO:0006975]; entrainment of circadian clock by photoperiod [GO:0043153]; gluconeogenesis [GO:0006094]; glucose homeostasis [GO:0042593]; lipid storage [GO:0019915]; negative regulation of circadian rhythm [GO:0042754]; negative regulation of G protein-coupled receptor signaling pathway [GO:0045744]; negative regulation of glucocorticoid receptor signaling pathway [GO:2000323]; negative regulation of glucocorticoid secretion [GO:2000850]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; protein-chromophore linkage [GO:0018298]; regulation of circadian rhythm [GO:0042752]; regulation of DNA damage checkpoint [GO:2000001]; response to glucagon [GO:0033762]; response to insulin [GO:0032868]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus {ECO:0000269|PubMed:22798407, ECO:0000269|PubMed:28388406}. Note=Translocated to the nucleus through interaction with other clock proteins such as PER2 or ARNTL/BMAL1. {ECO:0000250}.


uniprotID: Q96P56
geneSymbol: CATSPER2
reactome: R-HSA-1300642;
name: Cation channel sperm-associated protein 2 (CatSper2)
length: 530
go: ENSG00000166762;
snps: rs2614835 rs8042868
sequence:

opentargets:
CatSper complex [GO:0036128]; motile cilium [GO:0031514]; plasma membrane [GO:0005886]; calcium activated cation channel activity [GO:0005227]; calcium channel activity [GO:0005262]; voltage-gated ion channel activity [GO:0005244]; fertilization [GO:0009566]; flagellated sperm motility [GO:0030317]; multicellular organism development [GO:0007275]; regulation of ion transmembrane transport [GO:0034765]; sperm capacitation [GO:0048240]; sperm-egg recognition [GO:0035036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Variant 2; IsoId=Q96P56-1; Sequence=Displayed; Name=2; Synonyms=Variant 1; IsoId=Q96P56-2; Sequence=VSP_026976; Name=3; Synonyms=Variant 3; IsoId=Q96P56-3; Sequence=VSP_026975, VSP_026977; Name=4; IsoId=Q96P56-4; Sequence=VSP_026973, VSP_026974; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Specifically located in the principal piece of sperm tail.


uniprotID: Q86XM0
geneSymbol: CATSPERD
reactome: R-HSA-1300642;
length: 798
go: ENSG00000174898;
snps: rs57680462 rs17854252 rs2305925
name:
Cation channel sperm-associated protein subunit delta (CatSper-delta) (CatSperdelta) (Transmembrane protein 146)

sequence:

opentargets:
CatSper complex [GO:0036128]; plasma membrane [GO:0005886]; sperm principal piece [GO:0097228]; flagellated sperm motility [GO:0030317]; multicellular organism development [GO:0007275]; sperm capacitation [GO:0048240]; sperm-egg recognition [GO:0035036]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86XM0-1; Sequence=Displayed; Name=2; IsoId=Q86XM0-2; Sequence=VSP_025344, VSP_025345, VSP_025346; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane {ECO:0000250|UniProtKB:E9Q9F6}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:E9Q9F6}. Note=Specifically located in the principal piece of sperm tail. {ECO:0000250|UniProtKB:E9Q9F6}.


uniprotID: Q6ZRH7
geneSymbol: CATSPERG
reactome: R-HSA-1300642;
name: Cation channel sperm-associated protein subunit gamma
length: 1159
go: ENSG00000099338;
snps: rs2302182 rs3745953 rs2286550
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
CatSper complex [GO:0036128]; motile cilium [GO:0031514]; plasma membrane [GO:0005886]; sperm principal piece [GO:0097228]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; sperm-egg recognition [GO:0035036]; spermatogenesis [GO:0007283]


uniprotID: A6NM66
geneSymbol: LINC01548
name: Uncharacterized protein encoded by LINC01548
length: 108
sequence:
MLAKGAEEGRSGGPRPAITLPGSLHFTCDLKTSPYCLTRAELMEHLPLRVAVHSMSPCHRSCFCGELKRGHPWNTPQVSSFPSSTTSLSHSCTTSHLDCSQQVESGSK


uniprotID: Q9NYP8
geneSymbol: C21orf62
name: Uncharacterized protein C21orf62 (B37)
length: 219
sequence:


uniprotID: P58512
geneSymbol: LINC01547
name: Uncharacterized protein encoded by LINC01547
length: 204
opentargets: endoplasmic reticulum [GO:0005783]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A; IsoId=P58512-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; Synonyms=B; IsoId=P58512-2; Sequence=VSP_003829, VSP_003830; Note=No experimental confirmation available.; Name=3; IsoId=P58512-3; Sequence=VSP_039828, VSP_039829; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9NV44
geneSymbol: LINC00846
name: Putative uncharacterized protein encoded by LINC00846
length: 126
snps: rs928777
sequence:
MERPLIWHLPGLFPRPQFCPCSCGCFLHCGSHGEETRVPLVESGKNSIFTSLPANDHSSFTTSAGTYLGKETGPMWWPSLRCGRASGVALMHSTAQACGHHSPWAAWHLDSFPSLAEVCVALQGRI


uniprotID: P59091
geneSymbol: LINC00315
name: Putative uncharacterized protein encoded by LINC00315
length: 139
sequence:
MDSLTERCRPQPLAALGPADAQLHGPAAAGGGVGPRVMLSSLCREHPWQGRCPPIPAHGKEVRQLRHLHRTRPPDTHQDMARGPGLPHTHGLPARPSHVRHQTEPVQVASRWHVPSDGLCRPCHVHQLLHPPLVPALGA


uniprotID: Q96M42
geneSymbol: LINC00479
name: Putative uncharacterized protein encoded by LINC00479
length: 142
sequence:
MDGGSLRASPAAMDGGALEPAQQLSSLEGWTGQDRLLIPRWREARSLSWMQSPDLESSKCLTQGCCYPQAWILACSAALLQALASSDLQGSLDRVNYSRGLGPRVRLFVFPDTVGSTRKSGSTGNICSVMLNVATGCVRIEK


uniprotID: O60494
geneSymbol: CUBN
reactome: R-HSA-196741;R-HSA-196791;R-HSA-3359462;R-HSA-3359463;R-HSA-8964011;
pdb: 3KQ4;
length: 3623
go: ENSG00000107611;
drug: DB00115;DB00200;
name:
Cubilin (460 kDa receptor) (Intestinal intrinsic factor receptor) (Intrinsic factor-cobalamin receptor) (Intrinsic factor-vitamin B12 receptor)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; clathrin-coated pit [GO:0005905]; coated vesicle [GO:0030135]; cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; endocytic vesicle membrane [GO:0030666]; endoplasmic reticulum [GO:0005783]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; extrinsic component of external side of plasma membrane [GO:0031232]; Golgi apparatus [GO:0005794]; Golgi-associated vesicle [GO:0005798]; ionotropic glutamate receptor complex [GO:0008328]; lysosomal lumen [GO:0043202]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; neuron projection membrane [GO:0032589]; plasma membrane [GO:0005886]; synapse [GO:0045202]; calcium ion binding [GO:0005509]; cargo receptor activity [GO:0038024]; channel regulator activity [GO:0016247]; cobalamin binding [GO:0031419]; drug binding [GO:0008144]; hemoglobin binding [GO:0030492]; protein homodimerization activity [GO:0042803]; signaling receptor activity [GO:0038023]; transporter activity [GO:0005215]; adult locomotory behavior [GO:0008344]; cholesterol metabolic process [GO:0008203]; cobalamin catabolic process [GO:0042366]; cobalamin metabolic process [GO:0009235]; cobalamin transport [GO:0015889]; endocytic hemoglobin import [GO:0020028]; high-density lipoprotein particle clearance [GO:0034384]; hyperosmotic response [GO:0006972]; in utero embryonic development [GO:0001701]; lateral inhibition [GO:0046331]; lipoprotein transport [GO:0042953]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; protein homotrimerization [GO:0070207]; receptor-mediated endocytosis [GO:0006898]; regulation of locomotion [GO:0040012]; response to bacterium [GO:0009617]; response to nutrient [GO:0007584]; thigmotaxis [GO:0001966]; tissue homeostasis [GO:0001894]; vitamin D metabolic process [GO:0042359]

snps:
rs12259370 rs1801220 rs1801222 rs57335729 rs1801224 rs2228053 rs7905349 rs11254354 rs1801227 rs121434430 rs1801231 rs74116778 rs1276708 rs2271462 rs41289305 rs2356590 rs62619939 rs1276712 rs529856485 rs2271460 rs11254274 rs3740168 rs1801237 rs2796835 rs1801238 rs45551835 rs45569534 rs1801239 rs1801240 rs111265129 rs1801230 rs7898873 rs1801232 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:Q9JLB4}; Peripheral membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:14576052}; Peripheral membrane protein {ECO:0000305}. Membrane, coated pit {ECO:0000269|PubMed:14576052}. Endosome {ECO:0000269|PubMed:14576052}. Lysosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Colocalizes with AMN and LRP2 in the endocytotic apparatus of epithelial cells. {ECO:0000250}.


uniprotID: Q9NWM3
geneSymbol: CUEDC1
pdb: 2DHY;
name: CUE domain-containing protein 1
length: 386
go: ENSG00000180891;
snps: rs17762338 rs2304942 rs34800498
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWM3-1; Sequence=Displayed; Name=2; IsoId=Q9NWM3-2; Sequence=VSP_010316; Note=No experimental confirmation available.; 


uniprotID: Q9H467
geneSymbol: CUEDC2
name: CUE domain-containing protein 2
length: 287
go: ENSG00000107874;
sequence:

opentargets:
cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; negative regulation of macrophage cytokine production [GO:0010936]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17347654}. Nucleus {ECO:0000269|PubMed:17347654}.


uniprotID: Q13616
geneSymbol: CUL1
pdb: 1LDJ;1LDK;1U6G;3RTR;3TDU;3TDZ;4F52;4P5O;5V89;
name: Cullin-1 (CUL-1)
length: 776
go: ENSG00000055130;
reactome:
R-HSA-1169091;R-HSA-1170546;R-HSA-174113;R-HSA-187577;R-HSA-195253;R-HSA-202424;R-HSA-2122947;R-HSA-2565942;R-HSA-2644606;R-HSA-2644607;R-HSA-2871837;R-HSA-2894862;R-HSA-400253;R-HSA-5607761;R-HSA-5607764;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5676590;R-HSA-5684264;R-HSA-68949;R-HSA-69231;R-HSA-8854050;R-HSA-8939902;R-HSA-8951664;R-HSA-9020702;R-HSA-917937;R-HSA-9604323;R-HSA-983168;

sequence:

opentargets:
cullin-RING ubiquitin ligase complex [GO:0031461]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; Parkin-FBXW7-Cul1 ubiquitin ligase complex [GO:1990452]; SCF ubiquitin ligase complex [GO:0019005]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; animal organ morphogenesis [GO:0009887]; cell cycle arrest [GO:0007050]; cell proliferation [GO:0008283]; cellular iron ion homeostasis [GO:0006879]; G1/S transition of mitotic cell cycle [GO:0000082]; G2/M transition of mitotic cell cycle [GO:0000086]; interleukin-1-mediated signaling pathway [GO:0070498]; intrinsic apoptotic signaling pathway [GO:0097193]; negative regulation of cell proliferation [GO:0008285]; negative regulation of G2/M transition of mitotic cell cycle [GO:0010972]; NIK/NF-kappaB signaling [GO:0038061]; post-translational protein modification [GO:0043687]; protein monoubiquitination [GO:0006513]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; SCF complex assembly [GO:0010265]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; stress-activated MAPK cascade [GO:0051403]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]; Wnt signaling pathway [GO:0016055]


uniprotID: Q13617
geneSymbol: CUL2
reactome: R-HSA-1234176;R-HSA-8951664;R-HSA-9010553;R-HSA-983168;
pdb: 4WQO;5N4W;
name: Cullin-2 (CUL-2)
length: 745
go: ENSG00000108094;
sequence:

opentargets:
Cul2-RING ubiquitin ligase complex [GO:0031462]; cullin-RING ubiquitin ligase complex [GO:0031461]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; VCB complex [GO:0030891]; protein-containing complex binding [GO:0044877]; ubiquitin protein ligase binding [GO:0031625]; cell cycle arrest [GO:0007050]; G1/S transition of mitotic cell cycle [GO:0000082]; intrinsic apoptotic signaling pathway [GO:0097193]; negative regulation of cell proliferation [GO:0008285]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13617-1; Sequence=Displayed; Name=2; IsoId=Q13617-2; Sequence=VSP_044498; Note=No experimental confirmation available.; 


uniprotID: Q13618
geneSymbol: CUL3
reactome: R-HSA-4641258;R-HSA-5632684;R-HSA-5658442;R-HSA-8951664;R-HSA-983168;
pdb: 2MYL;2MYM;4AP2;4APF;4EOZ;4HXI;5NLB;
name: Cullin-3 (CUL-3)
length: 768
go: ENSG00000036257;
snps: rs2969802 rs17480168 rs199469656 rs199469658 rs3738952 rs763087632
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cullin-RING ubiquitin ligase complex [GO:0031461]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; polar microtubule [GO:0005827]; sperm flagellum [GO:0036126]; cyclin binding [GO:0030332]; Notch binding [GO:0005112]; POZ domain binding [GO:0031208]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; ubiquitin protein ligase binding [GO:0031625]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell cycle arrest [GO:0007050]; cell migration [GO:0016477]; cell projection organization [GO:0030030]; COPII vesicle coating [GO:0048208]; embryonic cleavage [GO:0040016]; ER to Golgi vesicle-mediated transport [GO:0006888]; fibroblast apoptotic process [GO:0044346]; G1/S transition of mitotic cell cycle [GO:0000082]; gastrulation [GO:0007369]; integrin-mediated signaling pathway [GO:0007229]; intrinsic apoptotic signaling pathway [GO:0097193]; liver morphogenesis [GO:0072576]; MAPK cascade [GO:0000165]; mitotic metaphase plate congression [GO:0007080]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of Rho protein signal transduction [GO:0035024]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nuclear protein quality control by the ubiquitin-proteasome system [GO:0071630]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytokinesis [GO:0032467]; positive regulation of mitotic metaphase/anaphase transition [GO:0045842]; positive regulation of protein ubiquitination [GO:0031398]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein destabilization [GO:0031648]; protein monoubiquitination [GO:0006513]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; stem cell division [GO:0017145]; stress fiber assembly [GO:0043149]; trophectodermal cellular morphogenesis [GO:0001831]; ubiquitin-dependent protein catabolic process [GO:0006511]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Cul-3 Long; IsoId=Q13618-1; Sequence=Displayed; Name=2; IsoId=Q13618-2; Sequence=VSP_008824; Name=3; Synonyms=Cul-3 Short; IsoId=Q13618-3; Sequence=VSP_008825; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10500095, ECO:0000269|PubMed:22085717}. Golgi apparatus {ECO:0000269|PubMed:10500095}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:28395323}. Cytoplasm. Note=Detected along the length of the sperm flagellum and in the cytoplasm of the germ cells. {ECO:0000269|PubMed:28395323}.


uniprotID: Q13619
geneSymbol: CUL4A
pdb: 2HYE;4A0K;
name: Cullin-4A (CUL-4A)
length: 759
go: ENSG00000139842;
snps: rs2302757
reactome:
R-HSA-110314;R-HSA-5696394;R-HSA-5696395;R-HSA-5696400;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-8951664;

sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; Cul4A-RING E3 ubiquitin ligase complex [GO:0031464]; cullin-RING ubiquitin ligase complex [GO:0031461]; nucleoplasm [GO:0005654]; ubiquitin protein ligase binding [GO:0031625]; cell cycle arrest [GO:0007050]; cellular response to DNA damage stimulus [GO:0006974]; DNA damage response, detection of DNA damage [GO:0042769]; G1/S transition of mitotic cell cycle [GO:0000082]; global genome nucleotide-excision repair [GO:0070911]; hemopoiesis [GO:0030097]; in utero embryonic development [GO:0001701]; intrinsic apoptotic signaling pathway [GO:0097193]; negative regulation of cell proliferation [GO:0008285]; negative regulation of granulocyte differentiation [GO:0030853]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; positive regulation of cell proliferation [GO:0008284]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein ubiquitination [GO:0016567]; regulation of DNA damage checkpoint [GO:2000001]; regulation of nucleotide-excision repair [GO:2000819]; regulation of protein metabolic process [GO:0051246]; somatic stem cell population maintenance [GO:0035019]; transcription-coupled nucleotide-excision repair [GO:0006283]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13619-1; Sequence=Displayed; Name=2; IsoId=Q13619-2; Sequence=VSP_018577; 


uniprotID: Q13620
geneSymbol: CUL4B
pdb: 2DO7;4A0C;4A0L;4A64;
name: Cullin-4B (CUL-4B)
length: 913
go: ENSG00000158290;
snps: rs61759504 rs763692058 rs121434615
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18593899, ECO:0000269|PubMed:19801544}.
reactome:
R-HSA-110314;R-HSA-5696394;R-HSA-5696395;R-HSA-5696400;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-8951664;

sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; Cul4B-RING E3 ubiquitin ligase complex [GO:0031465]; cullin-RING ubiquitin ligase complex [GO:0031461]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; ubiquitin protein ligase binding [GO:0031625]; cellular response to DNA damage stimulus [GO:0006974]; DNA damage response, detection of DNA damage [GO:0042769]; G1/S transition of mitotic cell cycle [GO:0000082]; global genome nucleotide-excision repair [GO:0070911]; histone H2A monoubiquitination [GO:0035518]; neuron projection development [GO:0031175]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of protein catabolic process [GO:0045732]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; protein ubiquitination [GO:0016567]; transcription-coupled nucleotide-excision repair [GO:0006283]; ubiquitin-dependent protein catabolic process [GO:0006511]; UV-damage excision repair [GO:0070914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13620-2; Sequence=Displayed; Name=2; IsoId=Q13620-1; Sequence=VSP_039085; Name=3; IsoId=Q13620-3; Sequence=VSP_039084, VSP_039086; 


uniprotID: Q8WXI2
geneSymbol: CNKSR2
reactome: R-HSA-5674135;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;
pdb: 2EAN;3BS5;
length: 1034
go: ENSG00000149970;
snps: rs771705122
location: SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein.
name:
Connector enhancer of kinase suppressor of ras 2 (Connector enhancer of KSR 2) (CNK homolog protein 2) (CNK2)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extrinsic component of postsynaptic density membrane [GO:0099147]; glutamatergic synapse [GO:0098978]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; identical protein binding [GO:0042802]; postsynapse organization [GO:0099173]; regulation of signal transduction [GO:0009966]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=CNK2A, KSR2A; IsoId=Q8WXI2-1; Sequence=Displayed; Name=2; Synonyms=CNK2B, KSR2B; IsoId=Q8WXI2-2; Sequence=VSP_010887; Name=3; IsoId=Q8WXI2-4; Sequence=VSP_043168, VSP_010887; Note=No experimental confirmation available.; Name=4; IsoId=Q8WXI2-5; Sequence=VSP_043169; Note=No experimental confirmation available.; 


uniprotID: Q8IV77
geneSymbol: CNGA4
reactome: R-HSA-5620916;
length: 575
go: ENSG00000132259;
snps: rs325706
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Cyclic nucleotide-gated cation channel alpha-4 (Cyclic nucleotide-gated channel alpha-4) (CNG channel alpha-4) (CNG-4) (CNG4)

sequence:

opentargets:
ciliary membrane [GO:0060170]; Golgi membrane [GO:0000139]; Golgi-associated vesicle membrane [GO:0030660]; integral component of membrane [GO:0016021]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IV77-1; Sequence=Displayed; Name=2; IsoId=Q8IV77-2; Sequence=VSP_039919, VSP_039920, VSP_039921; Note=No experimental confirmation available.; 


uniprotID: Q96KP4
geneSymbol: CNDP2
reactome: R-HSA-174403;
pdb: 4RUH;
length: 475
go: ENSG00000133313;
snps: rs2278161
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12473676, ECO:0000269|PubMed:17121880}.
name:
Cytosolic non-specific dipeptidase (EC 3.4.13.18) (CNDP dipeptidase 2) (Carnosine dipeptidase II) (Epididymis secretory protein Li 13) (Glutamate carboxypeptidase-like protein 1) (Peptidase A)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; alanylglutamate dipeptidase activity [GO:0103046]; carboxypeptidase activity [GO:0004180]; cytosolic dipeptidase activity [GO:0102008]; metal ion binding [GO:0046872]; metallopeptidase activity [GO:0008237]; glutathione biosynthetic process [GO:0006750]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96KP4-1; Sequence=Displayed; Name=2; Synonyms=CPGL-B; IsoId=Q96KP4-2; Sequence=VSP_038203; Note=Lacks a part of the catalytic domain. {ECO:0000305}; 


uniprotID: Q99439
geneSymbol: CNN2
reactome: R-HSA-6798695;R-HSA-8950505;
pdb: 1WYN;
name: Calponin-2 (Calponin H2, smooth muscle) (Neutral calponin)
length: 309
go: ENSG00000064666;
sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoskeleton [GO:0005856]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; membrane [GO:0016020]; specific granule lumen [GO:0035580]; stress fiber [GO:0001725]; tertiary granule lumen [GO:1904724]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; calmodulin binding [GO:0005516]; actomyosin structure organization [GO:0031032]; cellular response to mechanical stimulus [GO:0071260]; cytoskeleton organization [GO:0007010]; interleukin-12-mediated signaling pathway [GO:0035722]; neutrophil degranulation [GO:0043312]; regulation of actin filament-based process [GO:0032970]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99439-1; Sequence=Displayed; Name=2; IsoId=Q99439-2; Sequence=VSP_042941; Note=No experimental confirmation available.; 


uniprotID: O75175
geneSymbol: CNOT3
reactome: R-HSA-429947;R-HSA-6804115;
pdb: 4C0D;4C0G;5FU6;5FU7;
length: 753
go: ENSG00000088038;
name:
CCR4-NOT transcription complex subunit 3 (CCR4-associated factor 3) (Leukocyte receptor cluster member 2)

sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; CCR4-NOT core complex [GO:0030015]; cytosol [GO:0005829]; nucleus [GO:0005634]; P-body [GO:0000932]; 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 translation [GO:0017148]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; positive regulation of cold-induced thermogenesis [GO:0120162]; regulation of stem cell population maintenance [GO:2000036]; regulation of transcription, DNA-templated [GO:0006355]; trophectodermal cell differentiation [GO:0001829]

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


uniprotID: O14529
geneSymbol: CUX2
pdb: 1WH6;1WH8;1X2L;
name: Homeobox protein cut-like 2 (Homeobox protein cux-2)
length: 1486
go: ENSG00000111249;
snps: rs6490073
sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; cellular response to organic substance [GO:0071310]; cognition [GO:0050890]; Golgi vesicle transport [GO:0048193]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of dendrite morphogenesis [GO:0050775]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of gene expression [GO:0010628]; positive regulation of synapse assembly [GO:0051965]; short-term memory [GO:0007614]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00374}.


uniprotID: P22748
geneSymbol: CA4
reactome: R-HSA-1237044;R-HSA-1247673;R-HSA-1475029;
pdb: 1ZNC;3F7B;3F7U;3FW3;5IPZ;5JN8;5JN9;5JNA;5JNC;5KU6;
name: Carbonic anhydrase 4 (EC 4.2.1.1) (Carbonate dehydratase IV) (Carbonic anhydrase IV) (CA-IV)
length: 312
go: ENSG00000167434;
snps: rs104894559 rs121434552 rs185942554 rs121434551 rs2229178
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; cell surface [GO:0009986]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; secretory granule membrane [GO:0030667]; trans-Golgi network [GO:0005802]; transport vesicle membrane [GO:0030658]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; bicarbonate transport [GO:0015701]

drug:
DB00819;DB00436;DB00562;DB01194;DB00880;DB00606;DB01144;DB00869;DB08846;DB00311;DB00999;DB00774;DB00703;DB00232;DB09460;DB00273;DB01021;DB00909;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22748-1; Sequence=Displayed; Name=2; IsoId=P22748-2; Sequence=VSP_055973, VSP_055974; Note=No experimental confirmation available.; 


uniprotID: Q9BUN5
geneSymbol: CCDC28B
name: Coiled-coil domain-containing protein 28B
length: 200
go: ENSG00000160050;
opentargets: centrosome [GO:0005813]; cytoplasm [GO:0005737]; cilium assembly [GO:0060271]
snps: rs1407134
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BUN5-1; Sequence=Displayed; Name=2; IsoId=Q9BUN5-3; Sequence=VSP_046552; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16327777}. Note=It localizes near centrosomes and basal bodies.


uniprotID: Q8NHW4
geneSymbol: CCL4L1; CCL4L2
reactome: R-HSA-418594;
sequence: MKLCVTVLSLLVLVAAFCSLALSAPMGSDPPTACCFSYTARKLPRNFVVDYYETSSLCSQPAVVFQTKRGKQVCADPSESWVQEYVYDLELN
length: 92
go: ENSG00000276070;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
C-C motif chemokine 4-like (Lymphocyte activation gene 1 protein) (LAG-1) (Macrophage inflammatory protein 1-beta) (MIP-1-beta) (Monocyte adherence-induced protein 5-alpha) (Small-inducible cytokine A4-like)

opentargets:
extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; chemokine activity [GO:0008009]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Comment=CCL4L1 and CCL4L2 genes differ in their non-coding regions. Thus, alternative splicing events differ between the two genes.; Name=1; IsoId=Q8NHW4-1; Sequence=Displayed; Name=2; Synonyms=CCL4L2; IsoId=Q8NHW4-2; Sequence=VSP_032633; Name=3; Synonyms=CC4L2d; IsoId=Q8NHW4-3; Sequence=VSP_032629; Name=4; Synonyms=CC4L2f; IsoId=Q8NHW4-4; Sequence=VSP_032630; Name=5; Synonyms=CC4L2b1, CC4L2b2; IsoId=Q8NHW4-5; Sequence=VSP_032631; Name=6; Synonyms=CC4L2e; IsoId=Q8NHW4-6; Sequence=VSP_032632; Name=7; Synonyms=CC4L2d2; IsoId=Q8NHW4-7; Sequence=VSP_032625; Name=8; Synonyms=CC4L1d2; IsoId=Q8NHW4-8; Sequence=VSP_032626; Name=9; Synonyms=CC4L2bd2; IsoId=Q8NHW4-9; Sequence=VSP_032627; Name=10; Synonyms=CC44L2c; IsoId=Q8NHW4-10; Sequence=VSP_032628; 


uniprotID: Q66K79
geneSymbol: CPZ
name: Carboxypeptidase Z (CPZ) (EC 3.4.17.-)
length: 652
go: ENSG00000109625;
snps: rs2302583 rs34964084 rs35993494 rs7378066 rs9991535
sequence:

opentargets:
extracellular space [GO:0005615]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; peptide metabolic process [GO:0006518]; protein processing [GO:0016485]; proteolysis [GO:0006508]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q66K79-1; Sequence=Displayed; Name=2; IsoId=Q66K79-2; Sequence=VSP_020983; Name=3; IsoId=Q66K79-3; Sequence=VSP_040356; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:10671522}.


uniprotID: A1A4V9
geneSymbol: CCDC189
name: Coiled-coil domain-containing protein 189
length: 331
go: ENSG00000196118;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A1A4V9-1; Sequence=Displayed; Name=2; IsoId=A1A4V9-2; Sequence=VSP_031808; Note=No experimental confirmation available.; Name=3; IsoId=A1A4V9-3; Sequence=VSP_031807; Note=No experimental confirmation available.; Name=4; IsoId=A1A4V9-4; Sequence=VSP_045828, VSP_045829; Note=No experimental confirmation available.; 


uniprotID: Q8NCU4
geneSymbol: CCDC191
name: Coiled-coil domain-containing protein 191
length: 936
go: ENSG00000163617;
snps: rs17603649 rs6784095
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCU4-1; Sequence=Displayed; Name=2; IsoId=Q8NCU4-2; Sequence=VSP_057041, VSP_057042, VSP_057043; Note=No experimental confirmation available.; 


uniprotID: O60826
geneSymbol: CCDC22
reactome: R-HSA-8951664;
name: Coiled-coil domain-containing protein 22
length: 627
go: ENSG00000101997;
snps: rs863225428 rs147222955 rs863225429
location: SUBCELLULAR LOCATION: Endosome {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; nucleoplasm [GO:0005654]; cullin family protein binding [GO:0097602]; cellular copper ion homeostasis [GO:0006878]; cytoplasmic sequestering of NF-kappaB [GO:0007253]; Golgi to plasma membrane transport [GO:0006893]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of ubiquitin-dependent protein catabolic process [GO:2000060]; post-translational protein modification [GO:0043687]; protein transport [GO:0015031]


uniprotID: Q8NCU1
geneSymbol: CCDC197
name: Uncharacterized protein CCDC197 (Coiled-coil domain-containing protein 197)
length: 143
go: ENSG00000175699;
sequence:
MAAMDTGQRADPSNPGDKEGDLQGLWQELYQLQAKQKKLKREVEKHKLFEDYLIKVLEKIPEGCTGWEEPEEVLVEATVKHYGKLFTASQDTQKRLEAFCQMIQAVHRSLESLEEDHRALIASRSGCVSCRRSATASRSSGGS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCU1-1; Sequence=Displayed; Name=2; IsoId=Q8NCU1-2; Sequence=VSP_007204, VSP_007205; Note=No experimental confirmation available.; 


uniprotID: Q86WR0
geneSymbol: CCDC25
name: Coiled-coil domain-containing protein 25
length: 208
go: ENSG00000147419;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86WR0-1; Sequence=Displayed; Name=2; IsoId=Q86WR0-2; Sequence=VSP_056046; 


uniprotID: Q5VVM6
geneSymbol: CCDC30
name: Coiled-coil domain-containing protein 30 (Prefoldin subunit 6-like protein)
length: 783
go: ENSG00000186409;
snps: rs16829829
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VVM6-1; Sequence=Displayed; Name=2; IsoId=Q5VVM6-2; Sequence=VSP_033791, VSP_033792; 


uniprotID: Q9BV29
geneSymbol: CCDC32
name: Coiled-coil domain-containing protein 32
length: 185
go: ENSG00000128891;
snps: rs10152546
sequence:
MKMFESADSTATRSGQDLWAEICSCLPNPEQEDGANNAFSDSFVDSCPEGEGQREVADFAVQPAVKPWAPLQDSEVYLASLEKKLRRIKGLNQEVTSKDMLRTLAQAKKECWDRFLQEKLASEFFVDGLDSDESTLEHFKRWLQPDKVAVSTEEVQYLIPPESQVEKPVAEDEPAAGDKPAAAEQ

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BV29-1; Sequence=Displayed; Name=2; IsoId=Q9BV29-2; Sequence=VSP_027485; Note=No experimental confirmation available.; Name=3; IsoId=Q9BV29-3; Sequence=VSP_027486, VSP_027487; Note=No experimental confirmation available.; 


uniprotID: Q0P6D6
geneSymbol: CCDC15
name: Coiled-coil domain-containing protein 15
length: 951
go: ENSG00000149548;
opentargets: centrosome [GO:0005813]
snps: rs4936966 rs7107487
sequence:


uniprotID: P14209
geneSymbol: CD99
reactome: R-HSA-198933;R-HSA-202733;
name: CD99 antigen (12E7) (E2 antigen) (Protein MIC2) (T-cell surface glycoprotein E2) (CD antigen CD99)
length: 185
go: ENSG00000002586;
snps: rs4793 rs4717
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:
MARGAALALLLFGLLGVLVAAPDGGFDLSDALPDNENKKPTAIPKKPSAGDDFDLGDAVVDGENDDPRPPNPPKPMPNPNPNHPSSSGSFSDADLADGVSGGEGKGGSDGGGSHRKEGEEADAPGVIPGIVGAVVVAVAGAISSFIAYQKKKLCFKENAEQGEVDMESHRNANAEPAVQRTLLEK

opentargets:
cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=I; IsoId=P14209-1; Sequence=Displayed; Name=II; IsoId=P14209-2; Sequence=VSP_004324; Name=3; IsoId=P14209-3; Sequence=VSP_046315; Note=No experimental confirmation available.; 


uniprotID: Q5M9N0
geneSymbol: CCDC158
name: Coiled-coil domain-containing protein 158
length: 1113
go: ENSG00000163749;
snps: rs17001889 rs17001885
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5M9N0-1; Sequence=Displayed; Name=2; IsoId=Q5M9N0-2; Sequence=VSP_032391; Note=No experimental confirmation available.; Name=3; IsoId=Q5M9N0-3; Sequence=VSP_032390, VSP_032392; Note=No experimental confirmation available.; 


uniprotID: P21926
geneSymbol: CD9
reactome: R-HSA-114608;R-HSA-1300652;R-HSA-5336415;
length: 228
go: ENSG00000010278;
drug: DB05398;
name:
CD9 antigen (5H9 antigen) (Cell growth-inhibiting gene 2 protein) (Leukocyte antigen MIC3) (Motility-related protein) (MRP-1) (Tetraspanin-29) (Tspan-29) (p24) (CD antigen CD9)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; integrin binding [GO:0005178]; brain development [GO:0007420]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cellular component movement [GO:0051271]; negative regulation of platelet aggregation [GO:0090331]; oligodendrocyte development [GO:0014003]; paranodal junction assembly [GO:0030913]; platelet activation [GO:0030168]; platelet degranulation [GO:0002576]; receptor internalization [GO:0031623]; response to water deprivation [GO:0009414]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19640571}; Multi-pass membrane protein {ECO:0000269|PubMed:19640571}. Membrane {ECO:0000269|PubMed:19640571}; Multi-pass membrane protein {ECO:0000269|PubMed:19640571}. Secreted, exosome {ECO:0000250|UniProtKB:P40240}. Note=Present at the cell surface of oocytes. Accumulates in the adhesion area between the sperm and egg following interaction between IZUMO1 and its receptor IZUMO1R/JUNO. {ECO:0000250|UniProtKB:P40240}.


uniprotID: P21127
geneSymbol: CDK11B
reactome: R-HSA-380270;
length: 795
go: ENSG00000248333;
snps: rs752740049 rs1059831 rs1059830 rs1241694892 rs200190129 rs1059815 rs1059811
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
Cyclin-dependent kinase 11B (EC 2.7.11.22) (Cell division cycle 2-like protein kinase 1) (CLK-1) (Cell division protein kinase 11B) (Galactosyltransferase-associated protein kinase p58/GTA) (PITSLRE serine/threonine-protein kinase CDC2L1) (p58 CLK-1)

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]; RNA binding [GO:0003723]; apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; 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=10;  Name=SV9; Synonyms=CDK11-p110; IsoId=P21127-1; Sequence=Displayed; Name=SV1; Synonyms=Alpha 2-1; IsoId=P21127-2; Sequence=VSP_008280; Name=2; Synonyms=Alpha 2-2; IsoId=P21127-3; Sequence=VSP_008278, VSP_008279, VSP_008280; Name=3; Synonyms=Alpha 1; IsoId=P21127-4; Sequence=VSP_008276; Name=SV4; IsoId=P21127-5; Sequence=VSP_008275; Name=SV5; IsoId=P21127-6; Sequence=VSP_008273, VSP_008277, VSP_008278, VSP_008280; Name=8; Synonyms=Alpha 2-3; IsoId=P21127-8; Sequence=VSP_008278, VSP_008280; Name=SV10; IsoId=P21127-9; Sequence=VSP_008273, VSP_008277, VSP_008280; Name=SV11; Synonyms=Alpha 2-4; IsoId=P21127-10; Sequence=VSP_008274, VSP_008280; Name=7; Synonyms=CDK11-p58; IsoId=P21127-12; Sequence=VSP_018834; Note=Produced by alternative initiation at Met-357 of isoform SV9 via an internal ribosomal entry site (IRES).; 


uniprotID: P21854
geneSymbol: CD72
reactome: R-HSA-416700;
name: B-cell differentiation antigen CD72 (Lyb-2) (CD antigen CD72)
length: 359
go: ENSG00000137101;
snps: rs34791102
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; signaling receptor binding [GO:0005102]; transmembrane signaling receptor activity [GO:0004888]; cell adhesion [GO:0007155]


uniprotID: P15391
geneSymbol: CD19
reactome: R-HSA-1257604;R-HSA-198933;R-HSA-2219530;R-HSA-6811558;R-HSA-977606;R-HSA-983695;
pdb: 6AL5;
length: 556
go: ENSG00000177455;
drug: DB09052;
snps: rs2904880 rs34763945
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
B-lymphocyte antigen CD19 (B-lymphocyte surface antigen B4) (Differentiation antigen CD19) (T-cell surface antigen Leu-12) (CD antigen CD19)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; B cell receptor signaling pathway [GO:0050853]; cell surface receptor signaling pathway [GO:0007166]; cellular defense response [GO:0006968]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P15391-1; Sequence=Displayed; Name=2; IsoId=P15391-2; Sequence=VSP_047194; Note=No experimental confirmation available.; 


uniprotID: P31358
geneSymbol: CD52
reactome: R-HSA-163125;
sequence: MKRFLFLLLTISLLVMVQIQTGLSGQNDTSQTSSPSASSNISGGIFLFFVANAIIHLFCFS
length: 61
go: ENSG00000169442;
drug: DB00087;
snps: rs1071849 rs17645
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
name:
CAMPATH-1 antigen (CDw52) (Cambridge pathology 1 antigen) (Epididymal secretory protein E5) (Human epididymis-specific protein 5) (He5) (CD antigen CD52)

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; intrinsic component of plasma membrane [GO:0031226]; membrane [GO:0016020]; plasma membrane [GO:0005886]; sperm midpiece [GO:0097225]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; respiratory burst [GO:0045730]


uniprotID: O14519
geneSymbol: CDK2AP1
pdb: 2KW6;
length: 115
go: ENSG00000111328;
name:
Cyclin-dependent kinase 2-associated protein 1 (CDK2-associated protein 1) (Deleted in oral cancer 1) (DOC-1) (Putative oral cancer suppressor)

sequence:
MSYKPNLAAHMPAAALNAAGSVHSPSTSMATSSQYRQLLSDYGPPSLGYTQGTGNSQVPQSKYAELLAIIEELGKEIRPTYAGSKSAMERLKRGIIHARGLVRECLAETERNARS

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; DNA polymerase binding [GO:0070182]; cell cycle [GO:0007049]; DNA-dependent DNA replication [GO:0006261]; positive regulation of protein phosphorylation [GO:0001934]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14519-1; Sequence=Displayed; Name=2; IsoId=O14519-2; Sequence=VSP_046436; Note=No experimental confirmation available.; 


uniprotID: Q9BU64
geneSymbol: CENPO
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
name: Centromere protein O (CENP-O) (Interphase centromere complex protein 36)
length: 300
go: ENSG00000138092;
snps: rs1550116
sequence:

opentargets:
condensed nuclear chromosome kinetochore [GO:0000778]; condensed nuclear chromosome, centromeric region [GO:0000780]; cytosol [GO:0005829]; Mis6-Sim4 complex [GO:0031511]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; CENP-A containing nucleosome assembly [GO:0034080]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BU64-1; Sequence=Displayed; Name=2; IsoId=Q9BU64-2; Sequence=VSP_020446; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore. Note=The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex.


uniprotID: O75956
geneSymbol: CDK2AP2
pdb: 2M1L;
length: 126
go: ENSG00000167797;
name:
Cyclin-dependent kinase 2-associated protein 2 (CDK2-associated protein 2) (DOC-1-related protein) (DOC-1R)

sequence:
MSYKPIAPAPSSTPGSSTPGPGTPVPTGSVPSPSGSVPGAGAPFRPLFNDFGPPSMGYVQAMKPPGAQGSQSTYTDLLSVIEEMGKEIRPTYAGSKSAMERLKRGIIHARALVRECLAETERNART

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; nucleus [GO:0005634]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; regulation of microtubule cytoskeleton organization [GO:0070507]; regulation of stem cell division [GO:2000035]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9CPY4}. Nucleus {ECO:0000250|UniProtKB:Q9CPY4}. Note=Accumulates in immature oocytes in the nucleus. During the first meiotic division, accumulates in the cytoplasm and localizes in dots in the vicinity of the chromosomes in a region enriched in microtubules. {ECO:0000250|UniProtKB:Q9CPY4}.


uniprotID: Q6IPU0
geneSymbol: CENPP
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
name: Centromere protein P (CENP-P)
length: 288
go: ENSG00000188312;
sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; CENP-A containing nucleosome assembly [GO:0034080]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IPU0-1; Sequence=Displayed; Name=2; IsoId=Q6IPU0-2; Sequence=VSP_055368, VSP_055369; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16622420}. Chromosome, centromere {ECO:0000269|PubMed:16622420}. Note=Localizes exclusively in the centromeres. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex.


uniprotID: P49454
geneSymbol: CENPF
reactome: R-HSA-141444;R-HSA-156711;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
name: Centromere protein F (CENP-F) (AH antigen) (Kinetochore protein CENPF) (Mitosin)
length: 3210
sequence:

opentargets:
axoneme [GO:0005930]; centrosome [GO:0005813]; chromosome, centromeric region [GO:0000775]; ciliary basal body [GO:0036064]; ciliary transition fiber [GO:0097539]; condensed chromosome outer kinetochore [GO:0000940]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; kinetochore [GO:0000776]; midbody [GO:0030496]; nuclear envelope [GO:0005635]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; pronucleus [GO:0045120]; spindle [GO:0005819]; spindle pole [GO:0000922]; chromatin binding [GO:0003682]; dynein complex binding [GO:0070840]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; transcription factor binding [GO:0008134]; cell differentiation [GO:0030154]; cell division [GO:0051301]; cell proliferation [GO:0008283]; chromosome segregation [GO:0007059]; DNA biosynthetic process [GO:0071897]; kidney development [GO:0001822]; kinetochore assembly [GO:0051382]; metaphase plate congression [GO:0051310]; mitotic cell cycle [GO:0000278]; mitotic spindle assembly checkpoint [GO:0007094]; muscle organ development [GO:0007517]; negative regulation of transcription, DNA-templated [GO:0045892]; protein transport [GO:0015031]; regulation of cell cycle [GO:0051726]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of striated muscle tissue development [GO:0016202]; response to drug [GO:0042493]; ventricular system development [GO:0021591]

snps:
rs1050065 rs1050066 rs17023281 rs2070065 rs3795524 rs3795523 rs3795522 rs3795519 rs3795518 rs12067133 rs3795517 rs2666839 rs3795514 rs3748692 rs3790647 rs7289 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Nucleus matrix. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Note=Relocalizes to the kinetochore/centromere (coronal surface of the outer plate) and the spindle during mitosis. Observed in nucleus during interphase but not in the nucleolus. At metaphase becomes localized to areas including kinetochore and mitotic apparatus as well as cytoplasm. By telophase, is concentrated within the intracellular bridge at either side of the mid-body.


uniprotID: Q13352
geneSymbol: ITGB3BP
reactome: R-HSA-141444;R-HSA-205043;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
length: 177
go: ENSG00000142856;
snps: rs1058057
name:
Centromere protein R (CENP-R) (Beta-3-endonexin) (Integrin beta-3-binding protein) (Nuclear receptor-interacting factor 3)

sequence:
MPVKRSLKLDGLLEENSFDPSKITRKKSVITYSPTTGTCQMSLFASPTSSEEQKHRNGLSNEKRKKLNHPSLTESKESTTKDNDEFMMLLSKVEKLSEEIMEIMQNLSSIQALEGSRELENLIGISCASHFLKREMQKTKELMTKVNKQKLFEKSTGLPHKASRHLDSYEFLKAILN

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein C-terminus binding [GO:0008022]; apoptotic process [GO:0006915]; cell adhesion [GO:0007155]; cell cycle [GO:0007049]; cell division [GO:0051301]; CENP-A containing nucleosome assembly [GO:0034080]; positive regulation of apoptotic process [GO:0043065]; regulation of transcription, DNA-templated [GO:0006355]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q13352-1; Sequence=Displayed; Name=2; Synonyms=Long, EnL, En-L; IsoId=Q13352-2; Sequence=VSP_010834; Name=3; Synonyms=Short, EnS, En-S; IsoId=Q13352-3; Sequence=VSP_010833; Name=4; IsoId=Q13352-4; Sequence=VSP_010832; Name=5; IsoId=Q13352-5; Sequence=VSP_010831; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore.; SUBCELLULAR LOCATION: Isoform 2: Nucleus.; SUBCELLULAR LOCATION: Isoform 3: Nucleus. Cytoplasm. Note=Isoform 3 is predominantly nuclear and weakly cytoplasmic.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm.


uniprotID: Q13536
geneSymbol: C1orf61
name: Protein CROC-4 (Contingent replication of cDNA 4)
length: 156
go: ENSG00000125462;
opentargets: nucleus [GO:0005634]; positive regulation of transcription by RNA polymerase II [GO:0045944]
sequence:
MFLTEDLITFNLRNFLLFQLWESSFSPGAGGFCTTLPPSFLRVDDRATSSTTDSSRAPSSPRPPGSTSHCGISTRCTERCLCVLPLRTSQVPDVMAPQHDQEKFHDLAYSCLGKSFSMSNQDLYGYSTSSLALGLAWLSWETKKKNVLHLVGLDSL

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10995546}. Note=Associates within the nuclear transcriptional apparatus during proliferation and differentiation.


uniprotID: Q5TZA2
geneSymbol: CROCC
name: Rootletin (Ciliary rootlet coiled-coil protein)
length: 2017
snps: rs6586566 rs57442576 rs4463721 rs9435714 rs6669627
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary rootlet [GO:0035253]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; photoreceptor inner segment [GO:0001917]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; kinesin binding [GO:0019894]; structural molecule activity [GO:0005198]; centriole-centriole cohesion [GO:0010457]; centrosome cycle [GO:0007098]; ciliary basal body organization [GO:0032053]; epithelial structure maintenance [GO:0010669]; establishment of organelle localization [GO:0051656]; photoreceptor cell maintenance [GO:0045494]; positive regulation of cilium assembly [GO:0045724]; positive regulation of protein localization to cilium [GO:1903566]; protein localization [GO:0008104]; protein localization to organelle [GO:0033365]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:9455484}; IsoId=Q5TZA2-1; Sequence=Displayed; Name=2 {ECO:0000269|Ref.1}; IsoId=Q5TZA2-2; Sequence=VSP_052069, VSP_052070; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:27623382}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:27623382}. Note=In ciliated cells, associated with ciliary rootlets. In non-ciliated cells, localized between, around and at the proximal ends of the centrioles. Dissociates from the centrioles at the onset of mitosis and reassociates with them at anaphase. {ECO:0000269|PubMed:14654843}.


uniprotID: O95992
geneSymbol: CH25H
reactome: R-HSA-192105;
name: Cholesterol 25-hydroxylase (EC 1.14.99.38) (Cholesterol 25-monooxygenase) (h25OH)
length: 272
go: ENSG00000138135;
snps: rs17117295
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; C-4 methylsterol oxidase activity [GO:0000254]; cholesterol 25-hydroxylase activity [GO:0001567]; iron ion binding [GO:0005506]; steroid hydroxylase activity [GO:0008395]; B cell chemotaxis [GO:0035754]; bile acid biosynthetic process [GO:0006699]; cholesterol metabolic process [GO:0008203]; lipid metabolic process [GO:0006629]; sterol biosynthetic process [GO:0016126]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9Z0F5}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9Z0F5}.


uniprotID: Q96NF6
geneSymbol: C8orf49
name: Putative uncharacterized protein C8orf49
length: 230
opentargets: integral component of membrane [GO:0016021]
snps: rs804285 rs809204 rs13281294
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8WUX2
geneSymbol: CHAC2
reactome: R-HSA-174403;
length: 184
go: ENSG00000143942;
snps: rs17851583
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:27913623}.
name:
Glutathione-specific gamma-glutamylcyclotransferase 2 (Gamma-GCG 2) (EC 4.3.2.7) (Cation transport regulator-like protein 2)

sequence:
MWVFGYGSLIWKVDFPYQDKLVGYITNYSRRFWQGSTDHRGVPGKPGRVVTLVEDPAGCVWGVAYRLPVGKEEEVKAYLDFREKGGYRTTTVIFYPKDPTTKPFSVLLYIGTCDNPDYLGPAPLEDIAEQIFNAAGPSGRNTEYLFELANSIRNLVPEEADEHLFALEKLVKERLEGKQNLNCI

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; gamma-glutamylcyclotransferase activity [GO:0003839]; glutathione specific gamma-glutamylcyclotransferase activity [GO:0061928]; glutathione biosynthetic process [GO:0006750]; glutathione catabolic process [GO:0006751]


uniprotID: Q96JM3
geneSymbol: CHAMP1
pdb: 5XPT;5XPU;
name: Chromosome alignment-maintaining phosphoprotein 1 (Zinc finger protein 828)
length: 812
go: ENSG00000198824;
snps: rs3764522 rs35564629 rs12428067
sequence:

opentargets:
condensed chromosome [GO:0000793]; condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; Flemming body [GO:0090543]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle [GO:0005819]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; attachment of mitotic spindle microtubules to kinetochore [GO:0051315]; protein localization to kinetochore [GO:0034501]; protein localization to microtubule [GO:0035372]; sister chromatid biorientation [GO:0031134]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21063390}. Chromosome {ECO:0000269|PubMed:21063390}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:21063390}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:21063390}.


uniprotID: Q5IJ48
geneSymbol: CRB2
pdb: 2WO6;
name: Protein crumbs homolog 2 (Crumbs-like protein 2)
length: 1285
go: ENSG00000148204;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; calcium ion binding [GO:0005509]; enzyme binding [GO:0019899]; cardiovascular system development [GO:0072358]; ingression involved in gastrulation with mouth forming second [GO:0055111]; maintenance of epithelial cell apical/basal polarity [GO:0045199]; mesoderm formation [GO:0001707]; negative regulation of endopeptidase activity [GO:0010951]; notochord formation [GO:0014028]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; regulation of gastrulation [GO:0010470]; somitogenesis [GO:0001756]

snps:
rs73571404 rs2808415 rs542211566 rs1105223 rs1105222 rs199679542 rs145286619 rs879255250 rs202128397 rs879255252 rs730880377 rs730880300 rs2488602 rs757353722 rs765676223 rs73571431 rs147412276 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5IJ48-1; Sequence=Displayed; Name=2; IsoId=Q5IJ48-2; Sequence=VSP_014739, VSP_014740; Note=No experimental confirmation available.; Name=3; IsoId=Q5IJ48-3; Sequence=VSP_014737, VSP_014738; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Apical cell membrane {ECO:0000250|UniProtKB:Q80YA8}; Single-pass type I membrane protein {ECO:0000255}. Note=O-glucosylation is required for localization at the apical plasma membrane. {ECO:0000250|UniProtKB:Q80YA8}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000255}.


uniprotID: Q96BP2
geneSymbol: CHCHD1
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 118
go: ENSG00000172586;
name:
Coiled-coil-helix-coiled-coil-helix domain-containing protein 1 (28S ribosomal protein S37, mitochondrial) (MRP-S37) (Mitochondrial small ribosomal subunit protein mS37) (Nuclear protein C2360)

sequence:
MATPSLRGRLARFGNPRKPVLKPNKPLILANRVGERRREKGEATCITEMSVMMACWKQNEFRDDACRKEIQGFLDCAARAQEARKMRSIQETLGESGSLLPNKLNKLLQRFPNKPYLS

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; mitochondrial inner membrane [GO:0005743]; mitochondrial ribosome [GO:0005761]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23908630}. Nucleus {ECO:0000269|PubMed:15177562}.


uniprotID: Q9BUF7
geneSymbol: CRB3
reactome: R-HSA-420029;
pdb: 5I7Z;
name: Protein crumbs homolog 3
length: 120
go: ENSG00000130545;
sequence:
MANPGLGLLLALGLPFLLARWGRAWGQIQTTSANENSTVLPSSTSSSSDGNLRPEAITAIIVVFSLLAALLLAVGLALLVRKLREKRQTEGTYRPSSEEQVGARVPPTPNLKLPPEERLI

opentargets:
apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; protein domain specific binding [GO:0019904]; SH3 domain binding [GO:0017124]; bicellular tight junction assembly [GO:0070830]; protein localization to plasma membrane [GO:0072659]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A; IsoId=Q9BUF7-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q9BUF7-2; Sequence=VSP_013989; 

location:
SUBCELLULAR LOCATION: Apical cell membrane; Single-pass type I membrane protein. Cell junction, tight junction. Note=Localizes primarily to the apical membrane with a small fraction in the upper part of tight junctions of epithelial cells.


uniprotID: Q8NE62
geneSymbol: CHDH
reactome: R-HSA-6798163;
name: Choline dehydrogenase, mitochondrial (CDH) (CHD) (EC 1.1.99.1)
length: 594
go: ENSG00000016391;
drug: DB00122;
snps: rs9001 rs12676 rs34974961
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}.
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; choline dehydrogenase activity [GO:0008812]; flavin adenine dinucleotide binding [GO:0050660]; choline catabolic process [GO:0042426]; glycine betaine biosynthetic process from choline [GO:0019285]


uniprotID: Q9H078
geneSymbol: CLPB
name: Caseinolytic peptidase B protein homolog (EC 3.6.1.3) (Suppressor of potassium transport defect 3)
length: 707
go: ENSG00000162129;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25597510}.
sequence:

opentargets:
mitochondrion [GO:0005739]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; cellular response to heat [GO:0034605]

snps:
rs200032855 rs777313457 rs7938203 rs144078282 rs786205137 rs886041118 rs748915609 rs150857620 rs748010262 rs786205138 rs759500860 rs886041120 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9H078-1; Sequence=Displayed; Name=2; IsoId=Q9H078-2; Sequence=VSP_001106; Note=No experimental confirmation available.; Name=3; IsoId=Q9H078-3; Sequence=VSP_044726, VSP_001106; Note=No experimental confirmation available.; Name=4; IsoId=Q9H078-4; Sequence=VSP_044725; Note=No experimental confirmation available.; Name=5; IsoId=Q9H078-5; Sequence=VSP_057397, VSP_001106; Note=No experimental confirmation available.; 


uniprotID: Q9H7T0
geneSymbol: CATSPERB
reactome: R-HSA-1300642;
name: Cation channel sperm-associated protein subunit beta (CatSper-beta)
length: 1116
go: ENSG00000133962;
snps: rs57706558
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
CatSper complex [GO:0036128]; cilium [GO:0005929]; plasma membrane [GO:0005886]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; sperm-egg recognition [GO:0035036]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H7T0-1; Sequence=Displayed; Name=2; IsoId=Q9H7T0-2; Sequence=VSP_027008; Note=No experimental confirmation available.; 


uniprotID: Q14999
geneSymbol: CUL7
reactome: R-HSA-381038;R-HSA-8951664;R-HSA-983168;
pdb: 2JNG;
name: Cullin-7 (CUL-7)
length: 1698
go: ENSG00000044090;
snps: rs7774330 rs9381231 rs34574340 rs61752334 rs36071170 rs121918229 rs759300846
sequence:

opentargets:
3M complex [GO:1990393]; anaphase-promoting complex [GO:0005680]; centrosome [GO:0005813]; Cul7-RING ubiquitin ligase complex [GO:0031467]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; perinuclear region of cytoplasm [GO:0048471]; ubiquitin protein ligase binding [GO:0031625]; epithelial to mesenchymal transition [GO:0001837]; Golgi organization [GO:0007030]; IRE1-mediated unfolded protein response [GO:0036498]; microtubule cytoskeleton organization [GO:0000226]; mitotic cytokinesis [GO:0000281]; placenta development [GO:0001890]; positive regulation of dendrite morphogenesis [GO:0050775]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; proteolysis [GO:0006508]; regulation of mitotic nuclear division [GO:0007088]; ubiquitin-dependent protein catabolic process [GO:0006511]; vasculogenesis [GO:0001570]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14999-1; Sequence=Displayed; Name=2; IsoId=Q14999-2; Sequence=VSP_046105, VSP_046106; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, perinuclear region. Golgi apparatus. Note=Colocalizes with FBXW8 at the Golgi apparatus in neurons; localization to Golgi is mediated by OBSL1. During mitosis, localizes to the mitotic apparatus (PubMed:24793695). CCDC8 is required for centrosomal location (PubMed:24793695). {ECO:0000269|PubMed:24793695}.


uniprotID: Q969H4
geneSymbol: CNKSR1
reactome: R-HSA-5674135;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;
pdb: 1WWV;
length: 720
go: ENSG00000142675;
snps: rs17163640
name:
Connector enhancer of kinase suppressor of ras 1 (Connector enhancer of KSR 1) (CNK homolog protein 1) (CNK1) (hCNK1) (Connector enhancer of KSR-like)

sequence:

opentargets:
cell cortex [GO:0005938]; cell-cell junction [GO:0005911]; plasma membrane [GO:0005886]; protein binding, bridging [GO:0030674]; Ras protein signal transduction [GO:0007265]; Rho protein signal transduction [GO:0007266]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969H4-1; Sequence=Displayed; Name=2; IsoId=Q969H4-2; Sequence=VSP_010886; Note=No experimental confirmation available.; 


uniprotID: Q16281
geneSymbol: CNGA3
pdb: 3SWY;
length: 694
go: ENSG00000144191;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Cyclic nucleotide-gated cation channel alpha-3 (Cone photoreceptor cGMP-gated channel subunit alpha) (Cyclic nucleotide-gated channel alpha-3) (CNG channel alpha-3) (CNG-3) (CNG3)

sequence:

opentargets:
axon initial segment [GO:0043194]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; glial cell projection [GO:0097386]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; transmembrane transporter complex [GO:1902495]; cGMP binding [GO:0030553]; intracellular cAMP-activated cation channel activity [GO:0005222]; intracellular cGMP-activated cation channel activity [GO:0005223]; ligand-gated ion channel activity [GO:0015276]; protein C-terminus binding [GO:0008022]; cation transport [GO:0006812]; inorganic cation import across plasma membrane [GO:0098659]; response to cAMP [GO:0051591]; response to corticosteroid [GO:0031960]; response to magnesium ion [GO:0032026]; signal transduction [GO:0007165]; visual perception [GO:0007601]

snps:
rs62156348 rs199859850 rs34314205 rs747447519 rs104893612 rs762773298 rs761554853 rs2271041 rs762668060 rs138958917 rs147415641 rs148616345 rs374258471 rs943314733 rs781673067 rs104893620 rs778114016 rs763421555 rs104893614 rs104893613 rs104893616 rs1227761587 rs766637612 rs916035276 rs137852608 rs141386891 rs767083685 rs104893621 rs749842881 rs117522010 rs373954146 rs104893619 rs775332304 rs104893617 rs781227859 rs104893615 rs552069173 rs201747279 rs201782746 rs763041373 rs774676415 rs141577844 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16281-1; Sequence=Displayed; Name=2; IsoId=Q16281-2; Sequence=VSP_042525; Note=No experimental confirmation available.; Name=3; IsoId=Q16281-3; Sequence=VSP_057075; Note=No experimental confirmation available.; 


uniprotID: O75829
geneSymbol: CNMD
length: 334
go: ENSG00000136110;
snps: rs3742298 rs7330220
name:
Leukocyte cell-derived chemotaxin 1 (Chondromodulin) [Cleaved into: Chondrosurfactant protein (CH-SP); Chondromodulin-1 (Chondromodulin-I) (ChM-I)]

sequence:

opentargets:
endomembrane system [GO:0012505]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; cartilage development [GO:0051216]; cell differentiation [GO:0030154]; negative regulation of angiogenesis [GO:0016525]; proteoglycan metabolic process [GO:0006029]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75829-1; Sequence=Displayed; Name=2; IsoId=O75829-2; Sequence=VSP_038380; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Chondromodulin-1: Secreted, extracellular space, extracellular matrix. Note=Accumulated in the inter-territorial matrix of cartilage.; SUBCELLULAR LOCATION: Chondrosurfactant protein: Endomembrane system {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: O95628
geneSymbol: CNOT4
reactome: R-HSA-429947;R-HSA-6804115;
pdb: 1E4U;1UR6;
length: 575
go: ENSG00000080802;
snps: rs17480616
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Nucleus {ECO:0000305}.
name:
CCR4-NOT transcription complex subunit 4 (EC 2.3.2.27) (CCR4-associated factor 4) (E3 ubiquitin-protein ligase CNOT4) (Potential transcriptional repressor NOT4Hp) (RING-type E3 ubiquitin transferase CNOT4)

sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; cytosol [GO:0005829]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; ubiquitin-protein transferase activity [GO:0004842]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; protein autoubiquitination [GO:0051865]; protein ubiquitination [GO:0016567]; regulation of megakaryocyte differentiation [GO:0045652]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; IsoId=O95628-1; Sequence=Displayed; Name=2; IsoId=O95628-2; Sequence=VSP_009924; Name=3; IsoId=O95628-3; Sequence=VSP_009923; Note=No experimental confirmation available.; Name=4; IsoId=O95628-4; Sequence=VSP_009928; Note=No experimental confirmation available.; Name=5; IsoId=O95628-5; Sequence=VSP_009925, VSP_009926; Name=6; IsoId=O95628-6; Sequence=VSP_009927; Note=No experimental confirmation available.; Name=7; IsoId=O95628-7; Sequence=VSP_009929; Note=No experimental confirmation available.; Name=8; IsoId=O95628-8; Sequence=VSP_009924, VSP_009928; Note=No experimental confirmation available.; Name=9; IsoId=O95628-9; Sequence=VSP_009924, VSP_045469; Note=No experimental confirmation available. {ECO:0000305}; Name=10; IsoId=O95628-10; Sequence=VSP_045469; Note=No experimental confirmation available.; 


uniprotID: P29973
geneSymbol: CNGA1
reactome: R-HSA-2485179;R-HSA-2514859;
length: 690
go: ENSG00000198515;
snps: rs76537883 rs28642966 rs28642966 rs62625014
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
cGMP-gated cation channel alpha-1 (Cyclic nucleotide-gated cation channel 1) (Cyclic nucleotide-gated channel alpha-1) (CNG channel alpha-1) (CNG-1) (CNG1) (Cyclic nucleotide-gated channel, photoreceptor) (Rod photoreceptor cGMP-gated channel subunit alpha)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; photoreceptor outer segment membrane [GO:0042622]; plasma membrane [GO:0005886]; cGMP binding [GO:0030553]; intracellular cAMP-activated cation channel activity [GO:0005222]; intracellular cGMP-activated cation channel activity [GO:0005223]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; rhodopsin mediated signaling pathway [GO:0016056]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P29973-1; Sequence=Displayed; Name=2; IsoId=P29973-2; Sequence=VSP_047170; Note=No experimental confirmation available.; 


uniprotID: Q6PI25
geneSymbol: CNIH2
reactome: R-HSA-204005;R-HSA-5694530;
length: 160
go: ENSG00000174871;
name:
Protein cornichon homolog 2 (CNIH-2) (Cornichon family AMPA receptor auxiliary protein 2) (Cornichon-like protein)

sequence:
MAFTFAAFCYMLTLVLCASLIFFVIWHIIAFDELRTDFKNPIDQGNPARARERLKNIERICCLLRKLVVPEYSIHGLFCLMFLCAAEWVTLGLNIPLLFYHLWRYFHRPADGSEVMYDAVSIMNADILNYCQKESWCKLAFYLLSFFYYLYSMVYTLVSF

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; dendrite [GO:0030425]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; ER to Golgi transport vesicle membrane [GO:0012507]; glutamatergic synapse [GO:0098978]; Golgi membrane [GO:0000139]; integral component of postsynaptic density membrane [GO:0099061]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; localization within membrane [GO:0051668]; negative regulation of anterograde synaptic vesicle transport [GO:1903743]; negative regulation of receptor localization to synapse [GO:1902684]; regulation of AMPA receptor activity [GO:2000311]; regulation of membrane potential [GO:0042391]; regulation of NMDA receptor activity [GO:2000310]; regulation of postsynaptic neurotransmitter receptor activity [GO:0098962]; synaptic transmission, glutamatergic [GO:0035249]

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


uniprotID: P05937
geneSymbol: CALB1
reactome: R-HSA-977225;
name: Calbindin (Calbindin D28) (D-28K) (Vitamin D-dependent calcium-binding protein, avian-type)
length: 261
go: ENSG00000104327;
sequence:

opentargets:
axon [GO:0030424]; calyx of Held [GO:0044305]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; postsynaptic cytosol [GO:0099524]; presynaptic cytosol [GO:0099523]; synapse [GO:0045202]; calcium ion binding [GO:0005509]; calcium ion binding involved in regulation of postsynaptic cytosolic calcium ion concentration [GO:0099567]; calcium ion binding involved in regulation of presynaptic cytosolic calcium ion concentration [GO:0099534]; vitamin D binding [GO:0005499]; zinc ion binding [GO:0008270]; cellular protein metabolic process [GO:0044267]; cellular response to organic substance [GO:0071310]; locomotory behavior [GO:0007626]; long-term memory [GO:0007616]; metanephric collecting duct development [GO:0072205]; metanephric connecting tubule development [GO:0072286]; metanephric distal convoluted tubule development [GO:0072221]; metanephric part of ureteric bud development [GO:0035502]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of long-term synaptic potentiation [GO:1900271]; regulation of presynaptic cytosolic calcium ion concentration [GO:0099509]; retina layer formation [GO:0010842]; short-term memory [GO:0007614]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P05937-1; Sequence=Displayed; Name=2; IsoId=P05937-2; Sequence=VSP_055508; Note=No experimental confirmation available.; 


uniprotID: P55287
geneSymbol: CDH11
reactome: R-HSA-418990;
name: Cadherin-11 (OSF-4) (Osteoblast cadherin) (OB-cadherin)
length: 796
go: ENSG00000140937;
snps: rs35195 rs1130821 rs35213
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]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; 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]; corticospinal tract morphogenesis [GO:0021957]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; modulation of chemical synaptic transmission [GO:0050804]; ossification [GO:0001503]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55287-1; Sequence=Displayed; Name=2; IsoId=P55287-2; Sequence=VSP_000640, VSP_000641; 


uniprotID: Q8NCB2
geneSymbol: CAMKV
name: CaM kinase-like vesicle-associated protein
length: 501
go: ENSG00000164076;
snps: rs56071455 rs56307047 rs17849325
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; glutamatergic synapse [GO:0098978]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; regulation of modification of postsynaptic structure [GO:0099159]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NCB2-1; Sequence=Displayed; Name=2; IsoId=Q8NCB2-2; Sequence=VSP_020600; Name=3; IsoId=Q8NCB2-3; Sequence=VSP_020601; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Predominantly observed in association with the plasma membrane of soma and in neurites, both axons and dendrites. May be associated with vesicular structures (By similarity). {ECO:0000250}.


uniprotID: P10606
geneSymbol: COX5B
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase subunit 5B, mitochondrial (Cytochrome c oxidase polypeptide Vb)
length: 129
go: ENSG00000135940;
drug: DB02659;DB04464;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
sequence:
MASRLLRGAGTLAAQALRARGPSGAAAMRSMASGGGVPTDEEQATGLEREIMLAAKKGLDPYNVLAPKGASGTREDPNLVPSISNKRIVGCICEEDNTSVVWFWLHKGEAQRCPRCGAHYKLVPQQLAH

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex IV [GO:0005751]; mitochondrion [GO:0005739]; cytochrome-c oxidase activity [GO:0004129]; metal ion binding [GO:0046872]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]; respiratory gaseous exchange [GO:0007585]


uniprotID: Q9NQR7
geneSymbol: CCDC177
name: Coiled-coil domain-containing protein 177 (Myelin proteolipid protein-like protein)
length: 707
go: ENSG00000267909;
sequence:


uniprotID: Q5T5S1
geneSymbol: CCDC183
name: Coiled-coil domain-containing protein 183
length: 534
go: ENSG00000213213;
snps: rs945386 rs4546744 rs7859194 rs2811795 rs2254143
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5T5S1-1; Sequence=Displayed; Name=2; IsoId=Q5T5S1-2; Sequence=VSP_026482; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q5T5S1-3; Sequence=VSP_026477, VSP_026481; Name=4; IsoId=Q5T5S1-4; Sequence=VSP_026478, VSP_026479, VSP_026483, VSP_026484; Note=No experimental confirmation available.; 


uniprotID: Q03188
geneSymbol: CENPC
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
pdb: 5LSJ;5LSK;
length: 943
go: ENSG00000145241;
snps: rs11250 rs1056787
name:
Centromere protein C (CENP-C) (Centromere autoantigen C) (Centromere protein C 1) (CENP-C 1) (Interphase centromere complex protein 7)

sequence:

opentargets:
cleavage furrow [GO:0032154]; condensed nuclear chromosome kinetochore [GO:0000778]; condensed nuclear chromosome, centromeric region [GO:0000780]; cytosol [GO:0005829]; Flemming body [GO:0090543]; intercellular bridge [GO:0045171]; kinetochore [GO:0000776]; midbody [GO:0030496]; nuclear body [GO:0016604]; nuclear pericentric heterochromatin [GO:0031618]; nucleoplasm [GO:0005654]; pericentric heterochromatin [GO:0005721]; centromeric DNA binding [GO:0019237]; DNA binding [GO:0003677]; attachment of mitotic spindle microtubules to kinetochore [GO:0051315]; attachment of spindle microtubules to kinetochore involved in homologous chromosome segregation [GO:0051455]; cell division [GO:0051301]; CENP-A containing nucleosome assembly [GO:0034080]; chromosome segregation [GO:0007059]; kinetochore assembly [GO:0051382]; mitotic cell cycle [GO:0000278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q03188-1; Sequence=Displayed; Name=2; IsoId=Q03188-2; Sequence=VSP_057280, VSP_057281; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17651496}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:17651496, ECO:0000269|PubMed:19482874, ECO:0000269|PubMed:21529714}. Chromosome, centromere {ECO:0000269|PubMed:9645950}. Note=Localizes exclusively in the kinetochore domain of centromeres. {ECO:0000269|PubMed:21529714}.


uniprotID: Q7L2Z9
geneSymbol: CENPQ
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
name: Centromere protein Q (CENP-Q)
length: 268
go: ENSG00000031691;
snps: rs4267943 rs2501968
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; CENP-A containing nucleosome assembly [GO:0034080]; metaphase plate congression [GO:0051310]; positive regulation of protein localization to kinetochore [GO:1905342]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16622420}. Chromosome, centromere {ECO:0000269|PubMed:16622420}. Note=Localizes exclusively in the centromeres. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex.


uniprotID: Q9H3R5
geneSymbol: CENPH
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
name: Centromere protein H (CENP-H) (Interphase centromere complex protein 35)
length: 247
go: ENSG00000153044;
snps: rs777698677
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinetochore [GO:0000776]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; kinetochore binding [GO:0043515]; CENP-A containing nucleosome assembly [GO:0034080]; kinetochore assembly [GO:0051382]; kinetochore organization [GO:0051383]

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Associates with active centromere-kinetochore complexes throughout the cell cycle. Colocalizes with inner kinetochore plate proteins CENPA and CENPC during both interphase and metaphase.


uniprotID: Q96K31
geneSymbol: C8orf76
name: Uncharacterized protein C8orf76
length: 380
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=3; IsoId=Q96K31-1; Sequence=Displayed; Name=2; Synonyms=ZHX1-C8orf76; IsoId=Q96EF9-1; Sequence=External; Note=Based on a readthrough transcript which may produce a ZHX1-C8orf76 fusion protein. No experimental confirmation available.; 


uniprotID: Q99675
geneSymbol: CGRRF1
pdb: 2EA5;
length: 332
go: ENSG00000100532;
snps: rs11555279
name:
Cell growth regulator with RING finger domain protein 1 (Cell growth regulatory gene 19 protein) (RING finger protein 197)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; metal ion binding [GO:0046872]; cell cycle arrest [GO:0007050]; negative regulation of cell proliferation [GO:0008285]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22361696}. Endoplasmic reticulum {ECO:0000269|PubMed:27485036}.


uniprotID: Q9HC77
geneSymbol: CENPJ
pdb: 5EIB;5ITZ;
length: 1338
go: ENSG00000151849;
snps: rs35498994 rs17081389 rs7336216 rs9511510 rs34177811 rs17402892 rs121434311
reactome:
R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-6804115;R-HSA-8854518;

name:
Centromere protein J (CENP-J) (Centrosomal P4.1-associated protein) (LAG-3-associated protein) (LYST-interacting protein 1)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cytosol [GO:0005829]; gamma-tubulin small complex [GO:0008275]; microtubule [GO:0005874]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; tubulin binding [GO:0015631]; cell division [GO:0051301]; centriole elongation [GO:0061511]; centriole replication [GO:0007099]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule nucleation [GO:0007020]; microtubule polymerization [GO:0046785]; motile cilium assembly [GO:0044458]; non-motile cilium assembly [GO:1905515]; positive regulation of centriole elongation [GO:1903724]; positive regulation of establishment of protein localization [GO:1904951]; positive regulation of non-motile cilium assembly [GO:1902857]; regulation of centriole replication [GO:0046599]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HC77-1; Sequence=Displayed; Name=2; IsoId=Q9HC77-2; Sequence=VSP_056831, VSP_056832; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:11003675, ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:20531387}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:20531387, ECO:0000269|PubMed:22020124}. Note=Localized within the center of microtubule asters (PubMed:11003675). During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles (PubMed:17681131). {ECO:0000269|PubMed:11003675, ECO:0000269|PubMed:17681131}.


uniprotID: Q96BT3
geneSymbol: CENPT
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
name: Centromere protein T (CENP-T) (Interphase centromere complex protein 22)
length: 561
go: ENSG00000102901;
snps: rs12102580
sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinetochore [GO:0000776]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; cell division [GO:0051301]; CENP-A containing nucleosome assembly [GO:0034080]; chromosome organization [GO:0051276]; chromosome segregation [GO:0007059]; kinetochore assembly [GO:0051382]; mitotic cell cycle [GO:0000278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96BT3-1; Sequence=Displayed; Name=2; IsoId=Q96BT3-2; Sequence=VSP_020457, VSP_020458; Note=No experimental confirmation available.; Name=3; IsoId=Q96BT3-3; Sequence=VSP_020455, VSP_020456; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere {ECO:0000269|PubMed:16716197, ECO:0000269|PubMed:19070575, ECO:0000269|PubMed:19412974}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:19412974}. Note=Constitutively localizes to centromeres throughout the cell cycle, and to kinetochores during mitosis. Localizes to the inner kinetochore, and may connect it to the outer kinetochore via its N-terminus. {ECO:0000269|PubMed:19412974}.


uniprotID: Q71F23
geneSymbol: CENPU
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-606279;R-HSA-68877;
length: 418
go: ENSG00000151725;
snps: rs902174 rs902174 rs6552804 rs4616798 rs34007339
name:
Centromere protein U (CENP-U) (Centromere protein of 50 kDa) (CENP-50) (Interphase centromere complex protein 24) (KSHV latent nuclear antigen-interacting protein 1) (MLF1-interacting protein) (Polo-box-interacting protein 1)

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; CENP-A containing nucleosome assembly [GO:0034080]; chordate embryonic development [GO:0043009]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q71F23-1; Sequence=Displayed; Name=2; IsoId=Q71F23-2; Sequence=VSP_020030; Name=3; IsoId=Q71F23-3; Sequence=VSP_053526, VSP_053527; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Chromosome, centromere, kinetochore. Note=Localizes in the kinetochore domain of centromeres. Colocalizes with PLK1 at the interzone between the inner and the outer kinetochore plates.


uniprotID: P40313
geneSymbol: CTRL
name: Chymotrypsin-like protease CTRL-1 (EC 3.4.21.-)
length: 264
snps: rs11552953 rs1134760
sequence:

opentargets:
extracellular space [GO:0005615]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; protein catabolic process [GO:0030163]


uniprotID: Q05D32
geneSymbol: CTDSPL2
name: CTD small phosphatase-like protein 2 (CTDSP-like 2) (EC 3.1.3.-)
length: 466
go: ENSG00000137770;
snps: rs871923
sequence:

opentargets:
nucleoplasm [GO:0005654]; phosphoprotein phosphatase activity [GO:0004721]; negative regulation of BMP signaling pathway [GO:0030514]; positive regulation of protein export from nucleus [GO:0046827]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q05D32-1; Sequence=Displayed; Name=2; IsoId=Q05D32-2; Sequence=VSP_033218; 


uniprotID: Q86XQ3
geneSymbol: CATSPER3
reactome: R-HSA-1300642;
length: 398
go: ENSG00000152705;
snps: rs3896260
name:
Cation channel sperm-associated protein 3 (CatSper3) (Ca(v)-like protein) (One-repeat calcium channel-like protein)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; CatSper complex [GO:0036128]; endoplasmic reticulum [GO:0005783]; motile cilium [GO:0031514]; plasma membrane [GO:0005886]; voltage-gated calcium channel activity [GO:0005245]; flagellated sperm motility [GO:0030317]; multicellular organism development [GO:0007275]; regulation of ion transmembrane transport [GO:0034765]; sodium ion transport [GO:0006814]; sperm capacitation [GO:0048240]; sperm-egg recognition [GO:0035036]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane; Multi-pass membrane protein. Note=Specifically located in the principal piece of sperm tail.


uniprotID: Q7RTX7
geneSymbol: CATSPER4
reactome: R-HSA-1300642;
name: Cation channel sperm-associated protein 4 (CatSper4)
length: 472
go: ENSG00000188782;
snps: rs11247866 rs12138368 rs17257155 rs6657616
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; CatSper complex [GO:0036128]; plasma membrane [GO:0005886]; sperm principal piece [GO:0097228]; calcium activated cation channel activity [GO:0005227]; voltage-gated calcium channel activity [GO:0005245]; flagellated sperm motility [GO:0030317]; multicellular organism development [GO:0007275]; regulation of ion transmembrane transport [GO:0034765]; sodium ion transport [GO:0006814]; sperm capacitation [GO:0048240]; sperm-egg recognition [GO:0035036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7RTX7-1; Sequence=Displayed; Name=2; IsoId=Q7RTX7-2; Sequence=VSP_026979, VSP_026980; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane; Multi-pass membrane protein. Note=Specifically located in the principal piece of sperm tail.


uniprotID: Q99788
geneSymbol: CMKLR1
reactome: R-HSA-373076;
name: Chemokine-like receptor 1 (G-protein coupled receptor ChemR23) (G-protein coupled receptor DEZ)
length: 373
go: ENSG00000174600;
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; chemokine receptor activity [GO:0004950]; G protein-coupled receptor activity [GO:0004930]; signaling receptor activity [GO:0038023]; chemotaxis [GO:0006935]; complement receptor mediated signaling pathway [GO:0002430]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; negative regulation of interleukin-12 production [GO:0032695]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of macrophage chemotaxis [GO:0010759]; regulation of calcium-mediated signaling [GO:0050848]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q99788-1; 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=B; IsoId=Q99788-2; Sequence=VSP_001985; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15728234, ECO:0000269|PubMed:16863918}; Multi-pass membrane protein {ECO:0000269|PubMed:15728234, ECO:0000269|PubMed:16863918}.


uniprotID: Q8IWT3
geneSymbol: CUL9
reactome: R-HSA-8951664;
pdb: 2JUF;
name: Cullin-9 (CUL-9) (UbcH7-associated protein 1) (p53-associated parkin-like cytoplasmic protein)
length: 2517
go: ENSG00000112659;
snps: rs2273709 rs11962520
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12526791}.
sequence:

opentargets:
cullin-RING ubiquitin ligase complex [GO:0031461]; cytosol [GO:0005829]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; ubiquitin protein ligase binding [GO:0031625]; microtubule cytoskeleton organization [GO:0000226]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of mitotic nuclear division [GO:0007088]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IWT3-1; Sequence=Displayed; Name=2; IsoId=Q8IWT3-3; Sequence=VSP_009573; Note=No experimental confirmation available.; 


uniprotID: Q86XI2
geneSymbol: NCAPG2
reactome: R-HSA-2299718;
length: 1143
go: ENSG00000146918;
snps: rs10248318 rs3214000
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14532007}.
name:
Condensin-2 complex subunit G2 (Chromosome-associated protein G2) (CAP-G2) (hCAP-G2) (Leucine zipper protein 5) (Non-SMC condensin II complex subunit G2)

sequence:

opentargets:
condensin complex [GO:0000796]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; bHLH transcription factor binding [GO:0043425]; methylated histone binding [GO:0035064]; molecular function regulator [GO:0098772]; cell cycle [GO:0007049]; cell division [GO:0051301]; chromosome condensation [GO:0030261]; erythrocyte differentiation [GO:0030218]; inner cell mass cell proliferation [GO:0001833]; negative regulation of erythrocyte differentiation [GO:0045647]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of signaling receptor activity [GO:2000273]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86XI2-1; Sequence=Displayed; Name=2; IsoId=Q86XI2-2; Sequence=VSP_021311; 


uniprotID: G9CGD6
geneSymbol: CNK3/IPCEF1
name: CNK3/IPCEF1 fusion protein
length: 899
opentargets: cytoplasm [GO:0005737]; membrane [GO:0016020]; regulation of signal transduction [GO:0009966]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=CNK3-IPCEF1-1; Synonyms=CNK3/IPCEF1 Long-1; IsoId=G9CGD6-1; Sequence=Displayed; Note=Based on a naturally occurring readthrough transcript which produces an CNK3/IPCEF1 fusion protein. {ECO:0000269|PubMed:22085542}; Name=CNK3-IPCEF1-2; Synonyms=CNK3/IPCEF1 Long-2; IsoId=G9CGD6-2; Sequence=VSP_059280; Note=Based on a naturally occurring readthrough transcript which produces an CNK3/IPCEF1 fusion protein. {ECO:0000269|PubMed:22085542}; Name=CNK3-IPCEF1-3; Synonyms=CNK3/IPCEF1 Short; IsoId=G9CGD6-3; Sequence=VSP_059281; Note=Based on a naturally occurring readthrough transcript which produces an CNK3/IPCEF1 fusion protein. Major isoform found in CaCo2-cells. {ECO:0000269|PubMed:22085542}; Name=CNK3; IsoId=Q6P9H4-1; Sequence=External; Name=IPCEF1-1; IsoId=Q8WWN9-1; Sequence=External; Name=IPCEF1-2; IsoId=Q8WWN9-2; Sequence=External; 


uniprotID: Q6IBW4
geneSymbol: NCAPH2
reactome: R-HSA-2299718;
length: 605
go: ENSG00000025770;
name:
Condensin-2 complex subunit H2 (Chromosome-associated protein H2) (hCAP-H2) (Kleisin-beta) (Non-SMC condensin II complex subunit H2)

sequence:

opentargets:
cell junction [GO:0030054]; condensed chromosome [GO:0000793]; condensin complex [GO:0000796]; intercellular bridge [GO:0045171]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; chromosome organization [GO:0051276]; female meiosis chromosome separation [GO:0051309]; meiotic chromosome condensation [GO:0010032]; mitotic sister chromatid separation [GO:0051306]; T cell differentiation in thymus [GO:0033077]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6IBW4-1; Sequence=Displayed; Name=2; IsoId=Q6IBW4-2; Sequence=VSP_032636; Note=Gene prediction based on EST data.; Name=3; IsoId=Q6IBW4-5; Sequence=VSP_032637, VSP_032638; Note=No experimental confirmation available.; Name=4; IsoId=Q6IBW4-4; Sequence=VSP_032639; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14532007}. Chromosome {ECO:0000269|PubMed:14532007}. Note=Distributed along the arms of chromosomes assembled in vivo and in vitro.


uniprotID: Q96KN2
geneSymbol: CNDP1
pdb: 3DLJ;
length: 507
snps: rs11151964 rs4263028
location: SUBCELLULAR LOCATION: Secreted.
name:
Beta-Ala-His dipeptidase (EC 3.4.13.20) (CNDP dipeptidase 1) (Carnosine dipeptidase 1) (Glutamate carboxypeptidase-like protein 2) (Serum carnosinase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; carboxypeptidase activity [GO:0004180]; dipeptidase activity [GO:0016805]; metal ion binding [GO:0046872]; metallopeptidase activity [GO:0008237]; proteolysis [GO:0006508]; regulation of cellular protein metabolic process [GO:0032268]


uniprotID: O95476
geneSymbol: CTDNEP1
reactome: R-HSA-4419969;
name: CTD nuclear envelope phosphatase 1 (EC 3.1.3.16) (Serine/threonine-protein phosphatase dullard)
length: 244
go: ENSG00000175826;
snps: rs3744399
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; Nem1-Spo7 phosphatase complex [GO:0071595]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; phosphoprotein phosphatase activity [GO:0004721]; protein serine/threonine phosphatase activity [GO:0004722]; gamete generation [GO:0007276]; mesoderm development [GO:0007498]; mitotic nuclear envelope disassembly [GO:0007077]; nuclear envelope organization [GO:0006998]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of triglyceride biosynthetic process [GO:0010867]; protein dephosphorylation [GO:0006470]; protein localization to nucleus [GO:0034504]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein.


uniprotID: P51911
geneSymbol: CNN1
pdb: 1WYP;
name: Calponin-1 (Basic calponin) (Calponin H1, smooth muscle)
length: 297
go: ENSG00000130176;
sequence:

opentargets:
cytoskeleton [GO:0005856]; focal adhesion [GO:0005925]; actin binding [GO:0003779]; calmodulin binding [GO:0005516]; actomyosin structure organization [GO:0031032]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; regulation of smooth muscle contraction [GO:0006940]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51911-1; Sequence=Displayed; Name=2; IsoId=P51911-2; Sequence=VSP_056948; Note=No experimental confirmation available.; 


uniprotID: Q9NZN8
geneSymbol: CNOT2
reactome: R-HSA-429947;R-HSA-6804115;
pdb: 4C0D;4C0F;5FU6;5FU7;
name: CCR4-NOT transcription complex subunit 2 (CCR4-associated factor 2)
length: 540
go: ENSG00000111596;
snps: rs11178192
sequence:

opentargets:
CCR4-NOT complex [GO:0030014]; CCR4-NOT core complex [GO:0030015]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; P-body [GO:0000932]; plasma membrane [GO:0005886]; RNA polymerase II transcription corepressor binding [GO:0001226]; transcription coregulator activity [GO:0003712]; 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 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]; regulation of stem cell population maintenance [GO:2000036]; regulation of transcription by RNA polymerase II [GO:0006357]; RNA phosphodiester bond hydrolysis, exonucleolytic [GO:0090503]; trophectodermal cell differentiation [GO:0001829]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9NZN8-1; Sequence=Displayed; Name=2; IsoId=Q9NZN8-2; Sequence=VSP_009912; Note=No experimental confirmation available.; Name=3; IsoId=Q9NZN8-3; Sequence=VSP_009913; Note=May be due to an intron retention. No experimental confirmation available.; Name=4; IsoId=Q9NZN8-4; Sequence=VSP_009915, VSP_009916; Note=May be due to an intron retention. No experimental confirmation available.; Name=5; IsoId=Q9NZN8-5; Sequence=VSP_009914; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21299754}. Nucleus {ECO:0000305|PubMed:21299754}.


uniprotID: Q15417
geneSymbol: CNN3
name: Calponin-3 (Calponin, acidic isoform)
length: 329
go: ENSG00000117519;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell-cell adherens junction [GO:0005913]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; focal adhesion [GO:0005925]; neuronal cell body [GO:0043025]; postsynaptic density [GO:0014069]; actin binding [GO:0003779]; cadherin binding involved in cell-cell adhesion [GO:0098641]; calmodulin binding [GO:0005516]; microtubule binding [GO:0008017]; actomyosin structure organization [GO:0031032]; epithelial cell differentiation [GO:0030855]; negative regulation of ATPase activity [GO:0032780]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15417-1; Sequence=Displayed; Name=2; IsoId=Q15417-2; Sequence=VSP_055191; Note=No experimental confirmation available.; Name=3; IsoId=Q15417-3; Sequence=VSP_055192; Note=No experimental confirmation available.; 


uniprotID: Q9H8M5
geneSymbol: CNNM2
pdb: 4IY0;4IY2;4IY4;4IYS;
name: Metal transporter CNNM2 (Ancient conserved domain-containing protein 2) (Cyclin-M2)
length: 875
go: ENSG00000148842;
snps: rs76057237 rs786205909 rs794726858 rs786205910 rs387906975
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; ATP binding [GO:0005524]; magnesium ion transmembrane transporter activity [GO:0015095]; magnesium ion homeostasis [GO:0010960]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H8M5-1; Sequence=Displayed; Name=2; IsoId=Q9H8M5-2; Sequence=VSP_027080; Name=3; IsoId=Q9H8M5-3; Sequence=VSP_027077, VSP_027078; Note=No experimental confirmation available.; 


uniprotID: O95406
geneSymbol: CNIH1
reactome: R-HSA-204005;R-HSA-5694530;
length: 144
go: ENSG00000100528;
name:
Protein cornichon homolog 1 (CNIH-1) (Cornichon family AMPA receptor auxiliary protein 1) (Protein cornichon homolog) (T-cell growth-associated molecule 77) (TGAM77)

sequence:
MAFTFAAFCYMLALLLTAALIFFAIWHIIAFDELKTDYKNPIDQCNTLNPLVLPEYLIHAFFCVMFLCAAEWLTLGLNMPLLAYHIWRYMSRPVMSGPGLYDPTTIMNADILAYCQKEGWCKLAFYLLAFFYYLYGMIYVLVSS

opentargets:
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]; integral component of membrane [GO:0016021]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; immune response [GO:0006955]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:17607000}; Multi-pass membrane protein {ECO:0000269|PubMed:17607000}. Golgi apparatus membrane {ECO:0000269|PubMed:17607000}. Note=Located primarily in the ER; may cycle between the ER and the Golgi apparatus.


uniprotID: Q86UP6
geneSymbol: CUZD1
length: 607
go: ENSG00000138161;
snps: rs35120257
name:
CUB and zona pellucida-like domain-containing protein 1 (CUB and ZP domain-containing protein 1) (Transmembrane protein UO-44)

sequence:

opentargets:
integral component of membrane [GO:0016021]; transport vesicle membrane [GO:0030658]; zymogen granule membrane [GO:0042589]; cell cycle [GO:0007049]; cell division [GO:0051301]; cell proliferation [GO:0008283]; substrate-dependent cell migration, cell attachment to substrate [GO:0006931]; trypsinogen activation [GO:0032023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:15184879}; Synonyms=UO-44D {ECO:0000269|PubMed:15184879}; IsoId=Q86UP6-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15184879}; Synonyms=UO-44B {ECO:0000269|PubMed:15184879}, UO-44C {ECO:0000269|PubMed:15184879}; IsoId=Q86UP6-2; Sequence=VSP_052019; Name=3 {ECO:0000269|PubMed:15184879}; Synonyms=UO-44A {ECO:0000269|PubMed:15184879}; IsoId=Q86UP6-3; Sequence=VSP_052018; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Associated with zymogen granule membranes. {ECO:0000250}.


uniprotID: P0C0L4
geneSymbol: C4A
reactome: R-HSA-166663;R-HSA-174577;R-HSA-381426;R-HSA-8957275;R-HSA-977606;
pdb: 1HZF;4FXG;4FXK;4XAM;5JPM;5JPN;5JTW;
length: 1744
go: ENSG00000244731;
drug: DB00028;
snps: rs9296005 rs392610 rs2229405 rs429329 rs147162052 rs17874654 rs28357075 rs28357076 rs201016130
name:
Complement C4-A (Acidic complement C4) (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2) [Cleaved into: Complement C4 beta chain; Complement C4-A alpha chain; C4a anaphylatoxin; C4b-A; C4d-A; Complement C4 gamma chain]

sequence:

opentargets:
axon [GO:0030424]; blood microparticle [GO:0072562]; cell junction [GO:0030054]; dendrite [GO:0030425]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; synapse [GO:0045202]; complement component C1q binding [GO:0001849]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase activity [GO:0004252]; cellular protein metabolic process [GO:0044267]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; positive regulation of apoptotic cell clearance [GO:2000427]; post-translational protein modification [GO:0043687]; regulation of complement activation [GO:0030449]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0C0L4-1; Sequence=Displayed; Name=2; IsoId=P0C0L4-2; Sequence=VSP_046252; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted. Cell junction, synapse {ECO:0000269|PubMed:26814963}. Cell projection, axon {ECO:0000269|PubMed:26814963}. Cell projection, dendrite {ECO:0000269|PubMed:26814963}.


uniprotID: P0C0L5
geneSymbol: C4B; C4B_2
reactome: R-HSA-166663;R-HSA-174577;R-HSA-977606;
pdb: 4XAM;
length: 1744
go: ENSG00000224389;
drug: DB00028;
snps: rs139889867 rs796750528 rs2258218 rs2746414 rs2229403 rs2229409 rs2023616
name:
Complement C4-B (Basic complement C4) (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3) [Cleaved into: Complement C4 beta chain; Complement C4-B alpha chain; C4a anaphylatoxin; C4b-B; C4d-B; Complement C4 gamma chain]

sequence:

opentargets:
axon [GO:0030424]; blood microparticle [GO:0072562]; cell junction [GO:0030054]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; other organism cell [GO:0044216]; plasma membrane [GO:0005886]; synapse [GO:0045202]; carbohydrate binding [GO:0030246]; complement binding [GO:0001848]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; detection of molecule of bacterial origin [GO:0032490]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; opsonization [GO:0008228]; positive regulation of apoptotic cell clearance [GO:2000427]; regulation of complement activation [GO:0030449]

location:
SUBCELLULAR LOCATION: Secreted. Cell junction, synapse {ECO:0000269|PubMed:26814963}. Cell projection, axon {ECO:0000269|PubMed:26814963}. Cell projection, dendrite {ECO:0000269|PubMed:26814963}.


uniprotID: Q6IC83
geneSymbol: C22orf42
name: Uncharacterized protein C22orf42
length: 251
go: ENSG00000205856;
snps: rs5998267
sequence:


uniprotID: C9J442
geneSymbol: C22orf46
name: Uncharacterized protein C22orf46
length: 243
go: ENSG00000184208;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: P20908
geneSymbol: COL5A1
pdb: 1A89;1A9A;
name: Collagen alpha-1(V) chain
length: 1838
go: ENSG00000130635;
snps: rs147589613 rs138579182 rs61735045 rs139788610 rs772211736 rs61736966 rs149616140 rs80338764
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:
basement membrane [GO:0005604]; 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]; heparin binding [GO:0008201]; integrin binding [GO:0005178]; metal ion binding [GO:0046872]; platelet-derived growth factor binding [GO:0048407]; proteoglycan binding [GO:0043394]; blood vessel development [GO:0001568]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; collagen biosynthetic process [GO:0032964]; collagen fibril organization [GO:0030199]; extracellular matrix organization [GO:0030198]; eye morphogenesis [GO:0048592]; heart morphogenesis [GO:0003007]; integrin biosynthetic process [GO:0045112]; negative regulation of endodermal cell differentiation [GO:1903225]; regulation of cellular component organization [GO:0051128]; skin development [GO:0043588]; supramolecular fiber organization [GO:0097435]; tendon development [GO:0035989]; wound healing, spreading of epidermal cells [GO:0035313]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A {ECO:0000303|PubMed:22149965}; IsoId=P20908-1; Sequence=Displayed; Name=2; Synonyms=B {ECO:0000303|PubMed:22149965}; IsoId=P20908-2; Sequence=VSP_059655; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000255|PROSITE-ProRule:PRU00793}.


uniprotID: Q9NYJ1
geneSymbol: COA4
reactome: R-HSA-1268020;
sequence: MSTSVPQGHTWTQRVKKDDEEEDPLDQLISRSGCAASHFAVQECMAQHQDWRQCQPQVQAFKDCMSEQQARRQEELQRRQEQAGAHH
length: 87
go: ENSG00000181924;
opentargets: mitochondrion [GO:0005739]
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23676665}.
name:
Cytochrome c oxidase assembly factor 4 homolog, mitochondrial (Coiled-coil-helix-coiled-coil-helix domain-containing protein 8) (E2-induced gene 2 protein)

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NYJ1-1; Sequence=Displayed; Name=2; IsoId=Q9NYJ1-2; Sequence=VSP_030428; 


uniprotID: Q5JTJ3
geneSymbol: COA6
reactome: R-HSA-1268020;
name: Cytochrome c oxidase assembly factor 6 homolog
length: 125
go: ENSG00000168275;
snps: rs875989827
sequence:
MGPGGPLLSPSRGFLLCKTGWHSNRLLGDCGPHTPVSTALSFIAVGMAAPSMKERQVCWGARDEYWKCLDENLEDASQCKKLRSSFESSCPQQWIKYFDKRRDYLKFKEKFEAGQFEPSETTAKS

opentargets:
mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; copper ion binding [GO:0005507]; RNA binding [GO:0003723]; plasma membrane ATP synthesis coupled electron transport [GO:0042774]; respiratory chain complex IV assembly [GO:0008535]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JTJ3-1; Sequence=Displayed; Name=2; IsoId=Q5JTJ3-2; Sequence=VSP_023656; Note=Gene prediction based on EST data.; Name=3; IsoId=Q5JTJ3-3; Sequence=VSP_023655; Note=Gene prediction based on EST data. {ECO:0000244|PubMed:22814378}; 

location:
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:25339201, ECO:0000269|PubMed:25959673}.


uniprotID: Q9BV87
geneSymbol: CNPPD1
name: Protein CNPPD1 (Cyclin Pas1/PHO80 domain-containing protein 1)
length: 410
go: ENSG00000115649;
snps: rs1043160 rs1127102 rs1043161 rs17655123 rs4674361
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; protein kinase binding [GO:0019901]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]


uniprotID: A6NMZ7
geneSymbol: COL6A6
name: Collagen alpha-6(VI) chain
length: 2263
go: ENSG00000206384;
snps: rs4613427 rs9830253 rs11921769 rs59021909 rs16830494 rs7614116
sequence:

opentargets:
collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; cell adhesion [GO:0007155]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NMZ7-1; Sequence=Displayed; Name=2; IsoId=A6NMZ7-2; Sequence=VSP_033914, VSP_033915; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Deposed in the extracellular matrix of skeletal muscle. {ECO:0000250}.


uniprotID: P13671
geneSymbol: C6
reactome: R-HSA-166665;R-HSA-977606;
pdb: 3T5O;4A5W;4E0S;
name: Complement component C6
length: 934
go: ENSG00000039537;
snps: rs1801033 rs6896011 rs10462014
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane attack complex [GO:0005579]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; cytolysis [GO:0019835]; in utero embryonic development [GO:0001701]; innate immune response [GO:0045087]; positive regulation of activation of membrane attack complex [GO:0001970]; positive regulation of angiogenesis [GO:0045766]; regulation of complement activation [GO:0030449]


uniprotID: O14625
geneSymbol: CXCL11
reactome: R-HSA-380108;R-HSA-418594;
pdb: 1RJT;
sequence: MSVKGMAIALAVILCATVVQGFPMFKRGRCLCIGPGVKAVKVADIEKASIMYPSNNCDKIEVIITLKENKGQRCLNPKSKQARLIIKKVERKNF
length: 94
go: ENSG00000169248;
snps: rs4859596
location: SUBCELLULAR LOCATION: Secreted.
name:
C-X-C motif chemokine 11 (Beta-R1) (H174) (Interferon gamma-inducible protein 9) (IP-9) (Interferon-inducible T-cell alpha chemoattractant) (I-TAC) (Small-inducible cytokine B11)

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; chemokine activity [GO:0008009]; CXCR3 chemokine receptor binding [GO:0048248]; heparin binding [GO:0008201]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell-cell signaling [GO:0007267]; cellular response to lipopolysaccharide [GO:0071222]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; leukocyte chemotaxis [GO:0030595]; neutrophil chemotaxis [GO:0030593]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; regulation of cell proliferation [GO:0042127]; signal transduction [GO:0007165]; T cell chemotaxis [GO:0010818]


uniprotID: P10643
geneSymbol: C7
reactome: R-HSA-166665;R-HSA-977606;
pdb: 2WCY;
name: Complement component C7
length: 843
go: ENSG00000112936;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane attack complex [GO:0005579]; cellular sodium ion homeostasis [GO:0006883]; complement activation [GO:0006956]; complement activation, alternative pathway [GO:0006957]; complement activation, classical pathway [GO:0006958]; cytolysis [GO:0019835]; regulation of complement activation [GO:0030449]

snps:
rs2271708 rs369349760 rs121964921 rs1063499 rs3792646 rs121964920 rs13157656 rs541873000 rs113187203 


uniprotID: O95715
geneSymbol: CXCL14
pdb: 2HDL;
name: C-X-C motif chemokine 14 (Chemokine BRAK) (MIP-2G) (Small-inducible cytokine B14)
length: 111
go: ENSG00000145824;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MSLLPRRAPPVSMRLLAAALLLLLLALYTARVDGSKCKCSRKGPKIRYSDVKKLEMKPKYPHCEEKMVIITTKSVSRYRGQEHCLHPKLQSTKRFIKWYNAWNEKRRVYEE

opentargets:
extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; chemokine activity [GO:0008009]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell-cell signaling [GO:0007267]; chemotaxis [GO:0006935]; immune response [GO:0006955]; inner ear development [GO:0048839]; killing of cells of other organism [GO:0031640]; negative regulation of myoblast differentiation [GO:0045662]; positive regulation of natural killer cell chemotaxis [GO:2000503]; signal transduction [GO:0007165]


