# annotation

uniprotID: Q9UM22
geneSymbol: EPDR1
name: Mammalian ependymin-related protein 1 (MERP-1) (Upregulated in colorectal cancer gene 1 protein)
length: 224
go: ENSG00000086289;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; cell-matrix adhesion [GO:0007160]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UM22-1; Sequence=Displayed; Name=2; IsoId=Q9UM22-2; Sequence=VSP_031976; Name=3; IsoId=Q9UM22-3; Sequence=VSP_046829; 


uniprotID: Q6UW88
geneSymbol: EPGN
pdb: 5WB8;
name: Epigen (Epithelial mitogen) (EPG)
length: 154
go: ENSG00000182585;
sequence:
MALGVPISVYLLFNAMTALTEEAAVTVTPPITAQQGNWTVNKTEADNIEGPIALKFSHLCLEDHNSYCINGACAFHHELEKAICRCFTGYTGERCEHLTLTSYAVDSYEKYIAIGIGVGLLLSGFLVIFYCYIRKRCLKLKSPYNVCSGERRPL

opentargets:
extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; epidermal growth factor receptor binding [GO:0005154]; growth factor activity [GO:0008083]; activation of MAPK activity [GO:0000187]; angiogenesis [GO:0001525]; epidermal growth factor receptor signaling pathway [GO:0007173]; MAPK cascade [GO:0000165]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epidermal growth factor-activated receptor activity [GO:0045741]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of mitotic nuclear division [GO:0045840]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q6UW88-1; Sequence=Displayed; Name=2; IsoId=Q6UW88-2; Sequence=VSP_036655, VSP_036658; Name=3; Synonyms=B; IsoId=Q6UW88-3; Sequence=VSP_036657; Name=4; Synonyms=E; IsoId=Q6UW88-4; Sequence=VSP_036656; Name=5; Synonyms=F; IsoId=Q6UW88-5; Sequence=VSP_036655, VSP_036657; Name=6; Synonyms=G; IsoId=Q6UW88-6; Sequence=VSP_036655, VSP_036656; Name=7; Synonyms=D; IsoId=Q6UW88-7; Sequence=VSP_036654, VSP_036656; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 5: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 6: Secreted {ECO:0000305}.


uniprotID: P29320
geneSymbol: EPHA3
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
length: 983
go: ENSG00000044524;
pdb:
2GSF;2QO2;2QO7;2QO9;2QOB;2QOC;2QOD;2QOF;2QOI;2QOK;2QOL;2QON;2QOO;2QOQ;3DZQ;3FXX;3FY2;4G2F;4GK2;4GK3;4GK4;4L0P;4P4C;4P5Q;4P5Z;4TWN;4TWO;

name:
Ephrin type-A receptor 3 (EC 2.7.10.1) (EPH-like kinase 4) (EK4) (hEK4) (HEK) (Human embryo kinase) (Tyrosine-protein kinase TYRO4) (Tyrosine-protein kinase receptor ETK1) (Eph-like tyrosine kinase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; early endosome [GO:0005769]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; GPI-linked ephrin receptor activity [GO:0005004]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; cellular response to retinoic acid [GO:0071300]; ephrin receptor signaling pathway [GO:0048013]; fasciculation of motor neuron axon [GO:0097156]; fasciculation of sensory neuron axon [GO:0097155]; negative regulation of apoptotic process [GO:0043066]; negative regulation of endocytosis [GO:0045806]; negative regulation of signal transduction [GO:0009968]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein localization to plasma membrane [GO:1903078]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of epithelial to mesenchymal transition [GO:0010717]; regulation of focal adhesion assembly [GO:0051893]; regulation of GTPase activity [GO:0043087]; regulation of microtubule cytoskeleton organization [GO:0070507]

snps:
rs200567888 rs55712516 rs56077781 rs56081642 rs1414714315 rs34437982 rs17801309 rs35124509 rs372594677 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P29320-1; Sequence=Displayed; Name=2; IsoId=P29320-2; Sequence=VSP_002995, VSP_002996; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:11870224}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:21135139}.


uniprotID: P54764
geneSymbol: EPHA4
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
pdb: 2LW8;2WO1;2WO2;2WO3;3CKH;3GXU;4BK4;4BK5;4BKA;4BKF;4M4P;4M4R;4W4Z;4W50;5JR2;
length: 986
go: ENSG00000116106;
snps: rs35084379 rs756952113 rs868224085 rs35341687
name:
Ephrin type-A receptor 4 (EC 2.7.10.1) (EPH-like kinase 8) (EK8) (hEK8) (Tyrosine-protein kinase TYRO1) (Tyrosine-protein kinase receptor SEK)

sequence:

opentargets:
axon [GO:0030424]; axon terminus [GO:0043679]; axonal growth cone [GO:0044295]; cell junction [GO:0030054]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; filopodium [GO:0030175]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; mitochondrial outer membrane [GO:0005741]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; receptor complex [GO:0043235]; Schaffer collateral - CA1 synapse [GO:0098685]; amyloid-beta binding [GO:0001540]; ATP binding [GO:0005524]; DH domain binding [GO:0097161]; ephrin receptor binding [GO:0046875]; GPI-linked ephrin receptor activity [GO:0005004]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; PH domain binding [GO:0042731]; protein kinase activity [GO:0004672]; protein tyrosine kinase binding [GO:1990782]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; adult walking behavior [GO:0007628]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; cellular response to amyloid-beta [GO:1904646]; corticospinal tract morphogenesis [GO:0021957]; ephrin receptor signaling pathway [GO:0048013]; fasciculation of motor neuron axon [GO:0097156]; fasciculation of sensory neuron axon [GO:0097155]; glial cell migration [GO:0008347]; motor neuron axon guidance [GO:0008045]; negative regulation of apoptotic process [GO:0043066]; negative regulation of axon regeneration [GO:0048681]; negative regulation of long-term synaptic potentiation [GO:1900272]; negative regulation of neuron projection development [GO:0010977]; negative regulation of proteolysis involved in cellular protein catabolic process [GO:1903051]; negative regulation of signal transduction [GO:0009968]; nephric duct morphogenesis [GO:0072178]; neuron projection fasciculation [GO:0106030]; neuron projection guidance [GO:0097485]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of amyloid-beta formation [GO:1902004]; positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process [GO:1902961]; positive regulation of dendrite morphogenesis [GO:0050775]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of Rho guanyl-nucleotide exchange factor activity [GO:2001108]; protein autophosphorylation [GO:0046777]; protein stabilization [GO:0050821]; regulation of astrocyte differentiation [GO:0048710]; regulation of axonogenesis [GO:0050770]; regulation of dendritic spine morphogenesis [GO:0061001]; regulation of GTPase activity [GO:0043087]; regulation of modification of synaptic structure [GO:1905244]; synapse pruning [GO:0098883]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P54764-1; Sequence=Displayed; Name=2; IsoId=P54764-2; Sequence=VSP_056016; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Early endosome {ECO:0000250}. Note=Clustered upon activation and targeted to early endosome. {ECO:0000250}.


uniprotID: P54760
geneSymbol: EPHB4
reactome: R-HSA-2682334;R-HSA-3928662;R-HSA-3928664;R-HSA-3928665;
length: 987
go: ENSG00000196411;
drug: DB05007;
pdb:
2BBA;2E7H;2HLE;2QKQ;2VWU;2VWV;2VWW;2VWX;2VWY;2VWZ;2VX0;2VX1;2X9F;2XVD;2YN8;3ZEW;4AW5;4BB4;6FNI;6FNJ;6FNK;6FNL;6FNM;

name:
Ephrin type-B receptor 4 (EC 2.7.10.1) (Hepatoma transmembrane kinase) (Tyrosine-protein kinase TYRO11)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; ephrin receptor activity [GO:0005003]; protein tyrosine kinase activity [GO:0004713]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; angiogenesis [GO:0001525]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; cell migration involved in sprouting angiogenesis [GO:0002042]; ephrin receptor signaling pathway [GO:0048013]; heart morphogenesis [GO:0003007]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; protein autophosphorylation [GO:0046777]

snps:
rs34653459 rs55866373 rs17854760 rs267601191 rs55720981 rs36050247 rs55692440 rs1057519263 rs1057519264 rs34918225 rs762016655 rs35638378 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P54760-1; Sequence=Displayed; Name=2; IsoId=P54760-2; Sequence=VSP_056024, VSP_056025; Name=3; IsoId=P54760-3; Sequence=VSP_056020, VSP_056021; Name=4; IsoId=P54760-4; Sequence=VSP_056022, VSP_056023; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8188704}; Single-pass type I membrane protein {ECO:0000269|PubMed:8188704}.


uniprotID: Q15375
geneSymbol: EPHA7
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
pdb: 2REI;3DKO;3H8M;3NRU;
length: 998
go: ENSG00000135333;
drug: DB07970;
snps: rs2278107 rs2278106 rs371089003
name:
Ephrin type-A receptor 7 (EC 2.7.10.1) (EPH homology kinase 3) (EHK-3) (EPH-like kinase 11) (EK11) (hEK11)

sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; Schaffer collateral - CA1 synapse [GO:0098685]; ATP binding [GO:0005524]; axon guidance receptor activity [GO:0008046]; chemorepellent activity [GO:0045499]; ephrin receptor binding [GO:0046875]; GPI-linked ephrin receptor activity [GO:0005004]; protein tyrosine kinase activity [GO:0004713]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; apoptotic process [GO:0006915]; brain development [GO:0007420]; branching morphogenesis of a nerve [GO:0048755]; cell differentiation [GO:0030154]; ephrin receptor signaling pathway [GO:0048013]; negative chemotaxis [GO:0050919]; negative regulation of apoptotic process [GO:0043066]; negative regulation of collateral sprouting [GO:0048671]; negative regulation of signal transduction [GO:0009968]; negative regulation of synapse assembly [GO:0051964]; nephric duct morphogenesis [GO:0072178]; phosphorylation [GO:0016310]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of neuron apoptotic process [GO:0043525]; regulation of cell-cell adhesion [GO:0022407]; regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043281]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; regulation of postsynapse organization [GO:0099175]; regulation of protein autophosphorylation [GO:0031952]; retinal ganglion cell axon guidance [GO:0031290]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=EPHA7-FL; IsoId=Q15375-1; Sequence=Displayed; Name=2; IsoId=Q15375-2; Sequence=VSP_014382; Note=May be due to a competing donor splice site.; Name=3; IsoId=Q15375-3; Sequence=VSP_014380, VSP_014381; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q15375-4; Sequence=VSP_041945; Note=No experimental confirmation available.; Name=5; Synonyms=EPHA7-S; IsoId=Q15375-5; Sequence=VSP_041943, VSP_041944; Note=Expressed in lung cancer cells, lacks the kinase domain and is most probably secreted.; 


uniprotID: Q9H6B9
geneSymbol: EPHX3
name: Epoxide hydrolase 3 (EH3) (EC 3.3.2.10) (Abhydrolase domain-containing protein 9)
length: 360
go: ENSG00000105131;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; organelle membrane [GO:0031090]; epoxide hydrolase activity [GO:0004301]; epoxide metabolic process [GO:0097176]; lipid metabolic process [GO:0006629]

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000305|PubMed:22798687}; Single-pass membrane protein {ECO:0000255}.


uniprotID: Q8IUS5
geneSymbol: EPHX4
length: 362
go: ENSG00000172031;
opentargets: integral component of membrane [GO:0016021]; hydrolase activity [GO:0016787]
snps: rs17854127
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
Epoxide hydrolase 4 (EC 3.3.-.-) (Abhydrolase domain-containing protein 7) (Epoxide hydrolase-related protein)

sequence:


uniprotID: P58107
geneSymbol: EPPK1
name: Epiplakin (450 kDa epidermal antigen)
length: 5088
go: ENSG00000261150;
sequence:

opentargets:
apicolateral plasma membrane [GO:0016327]; basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cell periphery [GO:0071944]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; hemidesmosome [GO:0030056]; keratin filament [GO:0045095]; membrane [GO:0016020]; perinucleolar compartment [GO:0097356]; cytoskeletal protein binding [GO:0008092]; intermediate filament binding [GO:0019215]; keratin filament binding [GO:1990254]; RNA binding [GO:0003723]; structural molecule activity [GO:0005198]; intermediate filament bundle assembly [GO:0045110]; intermediate filament cytoskeleton organization [GO:0045104]; intermediate filament organization [GO:0045109]; negative regulation of cell migration [GO:0030336]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of keratinocyte migration [GO:0051548]; negative regulation of keratinocyte proliferation [GO:0010839]; negative regulation of wound healing [GO:0061045]; regulation of epithelium regeneration [GO:1905041]; wound healing [GO:0042060]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15671067, ECO:0000269|PubMed:23398049}. Cell junction, hemidesmosome {ECO:0000269|PubMed:23398049}. Cell junction, tight junction {ECO:0000269|PubMed:23398049}. Cell projection {ECO:0000269|PubMed:23398049}. Apicolateral cell membrane {ECO:0000250|UniProtKB:Q8R0W0}. Basolateral cell membrane {ECO:0000250|UniProtKB:Q8R0W0}. Cell junction {ECO:0000250|UniProtKB:Q8R0W0}. Note=May move dynamically from bundling intermediate filaments in the cytoplasm or at the cell periphery and reinforcing them (PubMed:23398049). Decorates the keratin intermediate filaments (IF) network and partially that of vimentin (PubMed:15671067). {ECO:0000269|PubMed:15671067, ECO:0000269|PubMed:23398049}.


uniprotID: Q9Y5Y0
geneSymbol: FLVCR1
reactome: R-HSA-917937;
length: 555
go: ENSG00000162769;
snps: rs11120047 rs267606820 rs267606821 rs753000469 rs267606819 rs3207090
name:
Feline leukemia virus subgroup C receptor-related protein 1 (Feline leukemia virus subgroup C receptor) (hFLVCR)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; heme binding [GO:0020037]; heme transporter activity [GO:0015232]; transporter activity [GO:0005215]; blood vessel development [GO:0001568]; cellular iron ion homeostasis [GO:0006879]; embryonic digit morphogenesis [GO:0042733]; embryonic skeletal system morphogenesis [GO:0048704]; erythrocyte differentiation [GO:0030218]; erythrocyte maturation [GO:0043249]; head morphogenesis [GO:0060323]; heme export [GO:0097037]; heme transport [GO:0015886]; in utero embryonic development [GO:0001701]; mitochondrial transport [GO:0006839]; multicellular organism development [GO:0007275]; multicellular organism growth [GO:0035264]; regulation of organ growth [GO:0046620]; spleen development [GO:0048536]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=FLVC1a; IsoId=Q9Y5Y0-1; Sequence=Displayed; Name=2; Synonyms=FLVC1b, mitochondrial; IsoId=Q9Y5Y0-2; Sequence=VSP_047866; Note=Has a probable mitochondrial transit peptide at positions 1-38.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Mitochondrion membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q16134
geneSymbol: ETFDH
reactome: R-HSA-611105;
length: 617
go: ENSG00000171503;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (ETF-QO) (ETF-ubiquinone oxidoreductase) (EC 1.5.5.1) (Electron-transferring-flavoprotein dehydrogenase) (ETF dehydrogenase)

sequence:

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; 4 iron, 4 sulfur cluster binding [GO:0051539]; electron transfer activity [GO:0009055]; electron-transferring-flavoprotein dehydrogenase activity [GO:0004174]; flavin adenine dinucleotide binding [GO:0050660]; metal ion binding [GO:0046872]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, oxidizing metal ions with flavin as acceptor [GO:0043783]; quinone binding [GO:0048038]; ubiquinone binding [GO:0048039]; electron transport chain [GO:0022900]; fatty acid beta-oxidation using acyl-CoA dehydrogenase [GO:0033539]; respiratory electron transport chain [GO:0022904]; response to oxidative stress [GO:0006979]

snps:
rs11559290 rs887871605 rs121964954 rs1140065 rs121964956 rs779896449 rs121964955 rs121964955 rs748289922 rs377686388 rs387907170 rs398124152 rs377656387 rs993314323 rs769893690 rs761669036 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16134-1; Sequence=Displayed; Name=2; IsoId=Q16134-3; Sequence=VSP_055158; Note=No experimental confirmation available.; 


uniprotID: Q9NY74
geneSymbol: ETAA1
name: Ewing's tumor-associated antigen 1 (Ewing's tumor-associated antigen 16)
length: 926
go: ENSG00000143971;
snps: rs13036061 rs3770657 rs3770656 rs3770655
sequence:

opentargets:
nuclear replication fork [GO:0043596]; protein serine/threonine kinase activator activity [GO:0043539]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; regulation of DNA damage checkpoint [GO:2000001]; replication fork processing [GO:0031297]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27601467, ECO:0000269|PubMed:27723717, ECO:0000269|PubMed:27723720}. Note=Localizes at sites of DNA damage following replication stress (PubMed:27601467, PubMed:27723720, PubMed:27723717). Recruited to stalled replication forks via interaction with RPA1 and RPA2 subunits of the RPA complex (PubMed:27601467, PubMed:27723720). {ECO:0000269|PubMed:27601467, ECO:0000269|PubMed:27723717, ECO:0000269|PubMed:27723720}.


uniprotID: Q9NVM1
geneSymbol: EVA1B
name: Protein eva-1 homolog B (Protein FAM176B)
length: 165
go: ENSG00000142694;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MDAPRRDMELLSNSLAAYAHIRANPESFGLYFVLGVCFGLLLTLCLLVISISWAPRPRPRGPAQRRDPRSSTLEPEDDDEDEEDTVTRLGPDDTLPGPELSAEPDGPLNVNVFTSAEELERAQRLEERERILREIWRTGQPDLLGTGTLGPSPTATGTLGRMHYY


uniprotID: Q6ZTU2
geneSymbol: EP400P1
name: Putative EP400-like protein (EP400 pseudogene 1)
length: 488
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6ZTU2-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6ZTU2-2; Sequence=VSP_030443, VSP_030446; Name=3; IsoId=Q6ZTU2-4; Sequence=VSP_030442, VSP_030445, VSP_030446; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZTU2-5; Sequence=VSP_030442, VSP_030447; Name=5; IsoId=Q6ZTU2-6; Sequence=VSP_030447; 


uniprotID: Q9H4G0
geneSymbol: EPB41L1
reactome: R-HSA-399719;R-HSA-6794361;
name: Band 4.1-like protein 1 (Neuronal protein 4.1) (4.1N)
length: 881
go: ENSG00000088367;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; structural molecule activity [GO:0005198]; actomyosin structure organization [GO:0031032]; cortical actin cytoskeleton organization [GO:0030866]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H4G0-1; Sequence=Displayed; Name=2; IsoId=Q9H4G0-2; Sequence=VSP_023958, VSP_023961, VSP_023963; Name=3; IsoId=Q9H4G0-3; Sequence=VSP_023958, VSP_023960, VSP_023961; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; Name=4; IsoId=Q9H4G0-4; Sequence=VSP_023959, VSP_023961, VSP_023962; 


uniprotID: P56555
geneSymbol: DSCR4
name: Down syndrome critical region protein 4 (Down syndrome critical region protein B)
length: 118
sequence:
MSLIILTRDDEPRIFTPDSDAASPALHSTSPLPDPASASPLHREEKILPKVCNIVSCLSFSLPASPTDSGLASPTIITREGQQFWAKCLIWKYQLYLHGLHKKSDGRRDKQISASPST


uniprotID: Q96G04
geneSymbol: EEF2KMT
reactome: R-HSA-8876725;
name: Protein-lysine N-methyltransferase EEF2KMT (EC 2.1.1.-) (eEF2-lysine methyltransferase) (eEF2-KMT)
length: 330
go: ENSG00000118894;
snps: rs9673733 rs148557961 rs3204207 rs12928528 rs760584474
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23349634}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; protein-containing complex [GO:0032991]; protein-lysine N-methyltransferase activity [GO:0016279]; peptidyl-lysine trimethylation [GO:0018023]; protein methylation [GO:0006479]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96G04-1; Sequence=Displayed; Name=2; IsoId=Q96G04-2; Sequence=VSP_017097; 


uniprotID: Q5JPI9
geneSymbol: EEF1AKMT2
reactome: R-HSA-8876725;
length: 291
go: ENSG00000203791;
snps: rs4347339
name:
EEF1A lysine methyltransferase 2 (EC 2.1.1.-) (Methyltransferase-like protein 10) (Protein-lysine N-methyltransferase METTL10)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; methyltransferase activity [GO:0008168]; protein-lysine N-methyltransferase activity [GO:0016279]; peptidyl-lysine methylation [GO:0018022]; protein methylation [GO:0006479]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03188, ECO:0000269|PubMed:25144183}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03188, ECO:0000269|PubMed:25144183}.


uniprotID: O43281
geneSymbol: EFS
name: Embryonal Fyn-associated substrate (hEFS) (Cas scaffolding protein family member 3)
length: 561
go: ENSG00000100842;
snps: rs2231798 rs2231801
sequence:

opentargets:
cytoplasm [GO:0005737]; protein domain specific binding [GO:0019904]; SH3 domain binding [GO:0017124]; actin filament reorganization [GO:0090527]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; intracellular signal transduction [GO:0035556]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Efs1; IsoId=O43281-1; Sequence=Displayed; Name=Efs2; IsoId=O43281-2; Sequence=VSP_004232; Name=3; IsoId=O43281-3; Sequence=VSP_004232, VSP_054584; Note=No experimental confirmation available.; 


uniprotID: A1L3X0
geneSymbol: ELOVL7
reactome: R-HSA-75876;
length: 281
go: ENSG00000164181;
name:
Elongation of very long chain fatty acids protein 7 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL7) (ELOVL fatty acid elongase 7) (ELOVL FA elongase 7) (Very long chain 3-ketoacyl-CoA synthase 7) (Very long chain 3-oxoacyl-CoA synthase 7)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; 3-oxo-arachidoyl-CoA synthase activity [GO:0102336]; 3-oxo-cerotoyl-CoA synthase activity [GO:0102337]; 3-oxo-lignoceronyl-CoA synthase activity [GO:0102338]; fatty acid elongase activity [GO:0009922]; very-long-chain 3-ketoacyl-CoA synthase activity [GO:0102756]; fatty acid elongation, monounsaturated fatty acid [GO:0034625]; fatty acid elongation, polyunsaturated fatty acid [GO:0034626]; fatty acid elongation, saturated fatty acid [GO:0019367]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; sphingolipid biosynthetic process [GO:0030148]; unsaturated fatty acid biosynthetic process [GO:0006636]; very long-chain fatty acid biosynthetic process [GO:0042761]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000255|HAMAP-Rule:MF_03207, ECO:0000269|PubMed:20937905}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03207}.


uniprotID: A4GXA9
geneSymbol: EME2
reactome: R-HSA-5693568;R-HSA-6783310;
name: Probable crossover junction endonuclease EME2 (EC 3.1.22.-)
length: 379
go: ENSG00000197774;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
Holliday junction resolvase complex [GO:0048476]; nuclear chromatin [GO:0000790]; DNA binding [GO:0003677]; endonuclease activity [GO:0004519]; double-strand break repair [GO:0006302]; intra-S DNA damage checkpoint [GO:0031573]; replication fork processing [GO:0031297]; resolution of meiotic recombination intermediates [GO:0000712]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A4GXA9-1; Sequence=Displayed; Name=2; IsoId=A4GXA9-2; Sequence=VSP_030938, VSP_030939; Note=No experimental confirmation available.; 


uniprotID: Q5UCC4
geneSymbol: EMC10
length: 262
go: ENSG00000161671;
name:
ER membrane protein complex subunit 10 (Hematopoietic signal peptide-containing membrane domain-containing protein 1)

sequence:

opentargets:
ER membrane protein complex [GO:0072546]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; angiogenesis [GO:0001525]; positive regulation of angiogenesis [GO:0045766]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of p38MAPK cascade [GO:1900745]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5UCC4-1; Sequence=Displayed; Name=2; Synonyms=Hematopoietic signal peptide-containing secreted protein 1, HSS1; IsoId=Q5UCC4-2; Sequence=VSP_030473; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000269|PubMed:22119785}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:19570817, ECO:0000269|PubMed:20680400, ECO:0000269|PubMed:28931551}.


uniprotID: Q04743
geneSymbol: EMX2
name: Homeobox protein EMX2 (Empty spiracles homolog 2) (Empty spiracles-like protein 2)
length: 252
go: ENSG00000170370;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anterior/posterior pattern specification [GO:0009952]; cell proliferation in forebrain [GO:0021846]; cerebral cortex regionalization [GO:0021796]; dentate gyrus development [GO:0021542]; forebrain cell migration [GO:0021885]; neuron differentiation [GO:0030182]; renal system development [GO:0072001]; response to drug [GO:0042493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q04743-1; Sequence=Displayed; Name=2; IsoId=Q04743-2; Sequence=VSP_045823; 


uniprotID: Q9NRM1
geneSymbol: ENAM
reactome: R-HSA-381426;R-HSA-8957275;
name: Enamelin
length: 1142
go: ENSG00000132464;
snps: rs867263935 rs2609428 rs7671281 rs3796703 rs3796704 rs3796705
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; structural constituent of tooth enamel [GO:0030345]; ameloblast differentiation [GO:0036305]; amelogenesis [GO:0097186]; biomineral tissue development [GO:0031214]; cellular protein metabolic process [GO:0044267]; positive regulation of enamel mineralization [GO:0070175]; post-translational protein modification [GO:0043687]; regulation of cell morphogenesis [GO:0022604]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:O97939}.


uniprotID: Q6PJG2
geneSymbol: ELMSAN1
name: ELM2 and SANT domain-containing protein 1 (MIDEAS)
length: 1045
go: ENSG00000156030;
snps: rs35302179 rs17782124 rs35905570
sequence:

opentargets:
histone deacetylase complex [GO:0000118]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]


uniprotID: Q92562
geneSymbol: FIG4
reactome: R-HSA-1660514;R-HSA-1660516;R-HSA-1660517;
length: 907
go: ENSG00000112367;
name:
Polyphosphoinositide phosphatase (EC 3.1.3.-) (Phosphatidylinositol 3,5-bisphosphate 5-phosphatase) (SAC domain-containing protein 3)

sequence:

opentargets:
early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; endosome membrane [GO:0010008]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; late endosome membrane [GO:0031902]; lipid droplet [GO:0005811]; recycling endosome [GO:0055037]; phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity [GO:0043813]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; phosphatidylinositol-4-phosphate phosphatase activity [GO:0043812]; locomotory behavior [GO:0007626]; myelin assembly [GO:0032288]; negative regulation of myelination [GO:0031642]; neuron development [GO:0048666]; phosphatidylinositol biosynthetic process [GO:0006661]; pigmentation [GO:0043473]; positive regulation of neuron projection development [GO:0010976]; vacuole organization [GO:0007033]

snps:
rs587777713 rs121908287 rs121908290 rs397509395 rs397514707 rs587777714 rs2295837 rs959747660 rs150301327 rs9885672 rs587777716 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:17556371}. Note=Localization requires VAC14 and PIKFYVE.


uniprotID: A6NMB9
geneSymbol: FIGNL2
name: Putative fidgetin-like protein 2
length: 653
go: ENSG00000261308;
snps: rs303819
sequence:

opentargets:
ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule-severing ATPase activity [GO:0008568]; cytoplasmic microtubule organization [GO:0031122]; regulation of double-strand break repair via homologous recombination [GO:0010569]


uniprotID: Q6UWT2
geneSymbol: ENHO
name: Adropin (Energy homeostasis-associated protein)
sequence: MGAAISQGALIAIVCNGLVGFLLLLLWVILCWACHSRSADVDSLSESSPNSSPGPCPEKAPPPQKPSHEGSYLLQP
length: 76
go: ENSG00000168913;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19041763}.
opentargets:
extracellular region [GO:0005576]; plasma membrane [GO:0005886]; hormone activity [GO:0005179]; glucose homeostasis [GO:0042593]; insulin receptor signaling pathway [GO:0008286]; insulin secretion [GO:0030073]; lipid biosynthetic process [GO:0008610]; macromolecule metabolic process [GO:0043170]; positive regulation of lipid biosynthetic process [GO:0046889]; positive regulation of macromolecule metabolic process [GO:0010604]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of oxidoreductase activity [GO:0051353]; positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding [GO:1905636]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWT2-1; Sequence=Displayed; Name=2; IsoId=Q6UWT2-2; Sequence=VSP_026454; Note=No experimental confirmation available.; 


uniprotID: P61568
geneSymbol: ERVK11-1
length: 191
location: SUBCELLULAR LOCATION: Virion {ECO:0000250}.
name:
Putative endogenous retrovirus group K member 11-1 Env polyprotein (Envelope polyprotein) (HERV-K_1p13.3 provirus ancestral Env polyprotein) [Includes: Truncated surface protein (SU)]

sequence:
MPGAIDDHCPAQPGEEGTAFNVTMGYKYPPLCLGHATRCIHLETQVWAAYLLERLATGKWGHLVSGLSLCPLRQMKRGVIGDTPYFQYKPVGKLCPKNFEGPSKTLIWGDCVNSHAVVLKNDSYALVIDWAPKGYLKNTCSSGGGEFLEATYFISYWEDEDHHPTLHRWFGSFFTLKWEDKDITLHPQGLV


uniprotID: A6NNW6
geneSymbol: ENO4
name: Enolase 4 (EC 4.2.1.11) (2-phospho-D-glycerate hydro-lyase)
length: 628
go: ENSG00000188316;
sequence:

opentargets:
phosphopyruvate hydratase complex [GO:0000015]; magnesium ion binding [GO:0000287]; phosphopyruvate hydratase activity [GO:0004634]; glycolytic process [GO:0006096]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A6NNW6-1; Sequence=Displayed; Name=2; IsoId=A6NNW6-2; Sequence=VSP_038263, VSP_038264; Name=3; IsoId=A6NNW6-3; Sequence=VSP_059725, VSP_059726; Name=4; IsoId=A6NNW6-4; Sequence=VSP_059724, VSP_059726, VSP_059727, VSP_059728; Note=No experimental confirmation available.; 


uniprotID: Q7L5Y1
geneSymbol: ENOSF1
pdb: 4A35;
length: 443
go: ENSG00000132199;
snps: rs34724061 rs2612086 rs2847620
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16162288}.
name:
Mitochondrial enolase superfamily member 1 (EC 4.2.1.68) (Antisense RNA to thymidylate synthase) (rTS) (L-fuconate dehydratase)

sequence:

opentargets:
mitochondrion [GO:0005739]; isomerase activity [GO:0016853]; L-fuconate dehydratase activity [GO:0050023]; magnesium ion binding [GO:0000287]; cellular amino acid catabolic process [GO:0009063]; cellular carbohydrate catabolic process [GO:0044275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=rTSgamma; IsoId=Q7L5Y1-1; Sequence=Displayed; Name=2; Synonyms=rTSalpha; IsoId=Q7L5Y1-2; Sequence=VSP_033311, VSP_033313; Name=3; IsoId=Q7L5Y1-3; Sequence=VSP_033312, VSP_033314; Name=4; IsoId=Q7L5Y1-4; Sequence=VSP_047153, VSP_047154; Note=Gene prediction based on EST data.; Name=5; IsoId=Q7L5Y1-5; Sequence=VSP_055243, VSP_047154; Name=6; IsoId=Q7L5Y1-6; Sequence=VSP_055242; Name=7; IsoId=Q7L5Y1-7; Sequence=VSP_055241; 


uniprotID: Q5JZY3
geneSymbol: EPHA10
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
name: Ephrin type-A receptor 10 (EC 2.7.10.1)
length: 1008
go: ENSG00000183317;
snps: rs34557762 rs771803475 rs56276182 rs4653328 rs17511304 rs12405650 rs6671088 rs6670599
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; cell differentiation [GO:0030154]; ephrin receptor signaling pathway [GO:0048013]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JZY3-1; Sequence=Displayed; Name=2; Synonyms=Epha10s; IsoId=Q5JZY3-2; Sequence=VSP_015772, VSP_015773; Name=3; Synonyms=Epha10*; IsoId=Q5JZY3-3; Sequence=VSP_015774, VSP_015775; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: P29323
geneSymbol: EPHB2
reactome: R-HSA-2682334;R-HSA-373760;R-HSA-3928662;R-HSA-3928664;R-HSA-3928665;
pdb: 1B4F;1F0M;2QBX;3ZFM;
length: 1055
go: ENSG00000133216;
drug: DB04395;
snps: rs201754821 rs35882952 rs56180036 rs142173175 rs28936395 rs55826626 rs372653137
name:
Ephrin type-B receptor 2 (EC 2.7.10.1) (Developmentally-regulated Eph-related tyrosine kinase) (ELK-related tyrosine kinase) (EPH tyrosine kinase 3) (EPH-like kinase 5) (EK5) (hEK5) (Renal carcinoma antigen NY-REN-47) (Tyrosine-protein kinase TYRO5) (Tyrosine-protein kinase receptor EPH-3)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular region [GO:0005576]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; receptor complex [GO:0043235]; amyloid-beta binding [GO:0001540]; ATP binding [GO:0005524]; axon guidance receptor activity [GO:0008046]; identical protein binding [GO:0042802]; protein tyrosine kinase activity [GO:0004713]; protein-containing complex binding [GO:0044877]; signaling receptor binding [GO:0005102]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; angiogenesis [GO:0001525]; axon guidance [GO:0007411]; axonal fasciculation [GO:0007413]; camera-type eye morphogenesis [GO:0048593]; cell differentiation [GO:0030154]; central nervous system projection neuron axonogenesis [GO:0021952]; commissural neuron axon guidance [GO:0071679]; corpus callosum development [GO:0022038]; dendritic spine development [GO:0060996]; dendritic spine morphogenesis [GO:0060997]; ephrin receptor signaling pathway [GO:0048013]; inactivation of MAPKK activity [GO:0051389]; inner ear morphogenesis [GO:0042472]; learning [GO:0007612]; learning or memory [GO:0007611]; negative regulation of apoptotic process [GO:0043066]; negative regulation of axonogenesis [GO:0050771]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of NMDA glutamate receptor activity [GO:1904782]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of Ras protein signal transduction [GO:0046580]; negative regulation of signal transduction [GO:0009968]; nervous system development [GO:0007399]; neuron projection retraction [GO:0106028]; optic nerve morphogenesis [GO:0021631]; peptidyl-tyrosine phosphorylation [GO:0018108]; phosphorylation [GO:0016310]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of long-term neuronal synaptic plasticity [GO:0048170]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of NMDA glutamate receptor activity [GO:1904783]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic plasticity [GO:0031915]; postsynaptic membrane assembly [GO:0097104]; regulation of body fluid levels [GO:0050878]; regulation of neuronal synaptic plasticity [GO:0048168]; retinal ganglion cell axon guidance [GO:0031290]; roof of mouth development [GO:0060021]; trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission [GO:0099557]; urogenital system development [GO:0001655]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=EPHB2v, Long; IsoId=P29323-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P29323-2; Sequence=VSP_003016, VSP_003017; Name=3; IsoId=P29323-3; Sequence=VSP_015713, VSP_003016, VSP_003017; Note=No experimental confirmation available. {ECO:0000244|PubMed:19369195}; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}.


uniprotID: Q9BSJ8
geneSymbol: ESYT1
reactome: R-HSA-1660662;
name: Extended synaptotagmin-1 (E-Syt1) (Membrane-bound C2 domain-containing protein)
length: 1104
go: ENSG00000139641;
snps: rs35075600
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; integral component of endoplasmic reticulum membrane [GO:0030176]; intrinsic component of endoplasmic reticulum membrane [GO:0031227]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; identical protein binding [GO:0042802]; phosphatidylcholine binding [GO:0031210]; phosphatidylethanolamine binding [GO:0008429]; phosphatidylinositol binding [GO:0035091]; endoplasmic reticulum-plasma membrane tethering [GO:0061817]; lipid transport [GO:0006869]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BSJ8-1; Sequence=Displayed; Name=2; IsoId=Q9BSJ8-2; Sequence=VSP_018277; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:29469807}; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:29469807}; Peripheral membrane protein. Note=Localizes primarily to the endoplasmic reticulum. Recruited to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. {ECO:0000269|PubMed:29469807}.


uniprotID: P13804
geneSymbol: ETFA
reactome: R-HSA-611105;
pdb: 1EFV;1T9G;2A1T;2A1U;
name: Electron transfer flavoprotein subunit alpha, mitochondrial (Alpha-ETF)
length: 333
go: ENSG00000140374;
snps: rs119458971 rs119458969 rs1801591 rs119458970
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; electron transfer activity [GO:0009055]; flavin adenine dinucleotide binding [GO:0050660]; oxidoreductase activity [GO:0016491]; fatty acid beta-oxidation using acyl-CoA dehydrogenase [GO:0033539]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13804-1; Sequence=Displayed; Name=2; IsoId=P13804-2; Sequence=VSP_043246; Note=No experimental confirmation available.; 


uniprotID: A0FGR9
geneSymbol: ESYT3
reactome: R-HSA-1660662;
name: Extended synaptotagmin-3 (E-Syt3) (Chr3Syt)
length: 886
go: ENSG00000158220;
snps: rs17857138 rs6772467 rs10935282 rs35537868
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; integral component of plasma membrane [GO:0005887]; intrinsic component of endoplasmic reticulum membrane [GO:0031227]; organelle membrane contact site [GO:0044232]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; phosphatidylcholine binding [GO:0031210]; phosphatidylethanolamine binding [GO:0008429]; phosphatidylinositol binding [GO:0035091]; endoplasmic reticulum-plasma membrane tethering [GO:0061817]; lipid transport [GO:0006869]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A0FGR9-1; Sequence=Displayed; Name=2; IsoId=A0FGR9-2; Sequence=VSP_030424, VSP_030425; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:29469807}; Peripheral membrane protein. Endoplasmic reticulum membrane {ECO:0000269|PubMed:29469807}; Multi-pass membrane protein. Note=Detected at sites of contact between the endoplasmic reticulum membrane and the cell membrane (PubMed:29469807). Recruited to the cell membrane via the third C2 domain. {ECO:0000269|PubMed:29469807}.


uniprotID: O95571
geneSymbol: ETHE1
reactome: R-HSA-1614517;
pdb: 4CHL;
length: 254
go: ENSG00000105755;
snps: rs182983506 rs745656120 rs28940289 rs387906987 rs763799125
name:
Persulfide dioxygenase ETHE1, mitochondrial (EC 1.13.11.18) (Ethylmalonic encephalopathy protein 1) (Hepatoma subtracted clone one protein) (Sulfur dioxygenase ETHE1)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; hydrolase activity, acting on ester bonds [GO:0016788]; iron ion binding [GO:0005506]; sulfur dioxygenase activity [GO:0050313]; glutathione metabolic process [GO:0006749]; hydrogen sulfide metabolic process [GO:0070813]; sulfide oxidation, using sulfide:quinone oxidoreductase [GO:0070221]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12398897}. Nucleus {ECO:0000269|PubMed:12398897}. Mitochondrion matrix {ECO:0000269|PubMed:14732903}.


uniprotID: Q6P2E9
geneSymbol: EDC4
reactome: R-HSA-430039;
length: 1401
go: ENSG00000038358;
name:
Enhancer of mRNA-decapping protein 4 (Autoantigen Ge-1) (Autoantigen RCD-8) (Human enhancer of decapping large subunit) (Hedls)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; deadenylation-independent decapping of nuclear-transcribed mRNA [GO:0031087]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P2E9-1; Sequence=Displayed; Name=2; IsoId=Q6P2E9-2; Sequence=VSP_023412; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:9067524}. Nucleus {ECO:0000269|PubMed:7520377}.


uniprotID: Q7Z2Z2
geneSymbol: EFL1
pdb: 5ANB;5ANC;
length: 1120
go: ENSG00000140598;
drug: DB03619;DB04315;DB02750;
snps: rs2292189 rs1128431 rs2292071
name:
Elongation factor-like GTPase 1 (Elongation factor Tu GTP-binding domain-containing protein 1) (Elongation factor-like 1) (Protein FAM42A)

sequence:

opentargets:
GTP binding [GO:0005525]; GTPase activity [GO:0003924]; ribosome binding [GO:0043022]; translation elongation factor activity [GO:0003746]; GTP metabolic process [GO:0046039]; mature ribosome assembly [GO:0042256]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z2Z2-1; Sequence=Displayed; Name=2; IsoId=Q7Z2Z2-2; Sequence=VSP_030152; 


uniprotID: P41214
geneSymbol: EIF2D
pdb: 5OA3;5OA9;5W2F;
length: 584
go: ENSG00000143486;
snps: rs35252702
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20566627}.
name:
Eukaryotic translation initiation factor 2D (eIF2d) (Hepatocellular carcinoma-associated antigen 56) (Ligatin)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear body [GO:0016604]; signaling receptor activity [GO:0038023]; translation initiation factor activity [GO:0003743]; formation of translation preinitiation complex [GO:0001731]; intracellular protein transport [GO:0006886]; IRES-dependent viral translational initiation [GO:0075522]; ribosome disassembly [GO:0032790]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P41214-1; Sequence=Displayed; Name=2; IsoId=P41214-2; Sequence=VSP_006300; 


uniprotID: O00303
geneSymbol: EIF3F
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 3J8B;3J8C;
length: 357
go: ENSG00000175390;
snps: rs1043738 rs1044058
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03005}.
name:
Eukaryotic translation initiation factor 3 subunit F (eIF3f) (Deubiquitinating enzyme eIF3f) (EC 3.4.19.12) (Eukaryotic translation initiation factor 3 subunit 5) (eIF-3-epsilon) (eIF3 p47)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; eukaryotic translation initiation factor 3 complex, eIF3m [GO:0071541]; membrane [GO:0016020]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; translation initiation factor activity [GO:0003743]; translation initiation factor binding [GO:0031369]; formation of cytoplasmic translation initiation complex [GO:0001732]; IRES-dependent viral translational initiation [GO:0075522]; protein deubiquitination [GO:0016579]; translational initiation [GO:0006413]


uniprotID: Q13347
geneSymbol: EIF3I
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
length: 325
go: ENSG00000084623;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03008}.
name:
Eukaryotic translation initiation factor 3 subunit I (eIF3i) (Eukaryotic translation initiation factor 3 subunit 2) (TGF-beta receptor-interacting protein 1) (TRIP-1) (eIF-3-beta) (eIF3 p36)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; eukaryotic translation initiation factor 3 complex, eIF3m [GO:0071541]; extracellular exosome [GO:0070062]; translation initiation factor activity [GO:0003743]; formation of cytoplasmic translation initiation complex [GO:0001732]; translational initiation [GO:0006413]


uniprotID: Q92556
geneSymbol: ELMO1
reactome: R-HSA-164944;R-HSA-2029482;R-HSA-4420097;R-HSA-8849471;
pdb: 2RQR;2VSZ;3A98;
name: Engulfment and cell motility protein 1 (Protein ced-12 homolog)
length: 727
go: ENSG00000155849;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; guanyl-nucleotide exchange factor complex [GO:0032045]; membrane [GO:0016020]; plasma membrane [GO:0005886]; SH3 domain binding [GO:0017124]; actin cytoskeleton organization [GO:0030036]; apoptotic process [GO:0006915]; cell migration [GO:0016477]; cell motility [GO:0048870]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; phagocytosis, engulfment [GO:0006911]; Rac protein signal transduction [GO:0016601]; regulation of defense response to virus by virus [GO:0050690]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92556-1; Sequence=Displayed; Name=2; IsoId=Q92556-2; Sequence=VSP_007480; Name=3; IsoId=Q92556-3; Sequence=VSP_038550, VSP_038551; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Note=Translocation to plasma membrane seems to be mediated by DOCK1 and CRK.


uniprotID: Q6IA86
geneSymbol: ELP2
reactome: R-HSA-3214847;
name: Elongator complex protein 2 (ELP2) (SHINC-2) (STAT3-interacting protein 1) (StIP1)
length: 826
go: ENSG00000134759;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Elongator holoenzyme complex [GO:0033588]; transcription elongation factor complex [GO:0008023]; protein kinase binding [GO:0019901]; regulation of JAK-STAT cascade [GO:0046425]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription elongation from RNA polymerase II promoter [GO:0006368]; tRNA wobble uridine modification [GO:0002098]

snps:
rs1785934 rs773432002 rs1785928 rs16967474 rs767713084 rs28463092 rs17563617 rs12607773 rs1044128 rs1044134 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q6IA86-1; Sequence=Displayed; Name=2; IsoId=Q6IA86-2; Sequence=VSP_016531, VSP_016532; Name=3; IsoId=Q6IA86-3; Sequence=VSP_016531; Name=4; IsoId=Q6IA86-4; Sequence=VSP_016533; Note=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=Q6IA86-5; Sequence=VSP_043410, VSP_016532; Note=No experimental confirmation available.; Name=6; IsoId=Q6IA86-6; Sequence=VSP_044979; Note=No experimental confirmation available.; Name=7; IsoId=Q6IA86-7; Sequence=VSP_044978; Note=No experimental confirmation available.; 


uniprotID: Q8IYF1
geneSymbol: ELOA2
length: 753
go: ENSG00000206181;
snps: rs2571028 rs2010834 rs892586 rs3744863 rs138369139
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
reactome:
R-HSA-112382;R-HSA-167152;R-HSA-167200;R-HSA-167238;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-674695;R-HSA-6796648;R-HSA-75955;

name:
Elongin-A2 (EloA2) (RNA polymerase II transcription factor SIII subunit A2) (Transcription elongation factor B polypeptide 3B)

sequence:

opentargets:
elongin complex [GO:0070449]; nucleoplasm [GO:0005654]; regulation of DNA-templated transcription, elongation [GO:0032784]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]


uniprotID: Q8NG57
geneSymbol: ELOA3
length: 546
go: ENSG00000183791;
snps: rs2261291
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11994304}.
reactome:
R-HSA-112382;R-HSA-167152;R-HSA-167200;R-HSA-167238;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-674695;R-HSA-6796648;R-HSA-75955;

name:
Elongin-A3 (EloA3) (RNA polymerase II transcription factor SIII subunit A3) (Transcription elongation factor B polypeptide 3C)

sequence:

opentargets:
elongin complex [GO:0070449]; nucleoplasm [GO:0005654]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]


uniprotID: Q05BV3
geneSymbol: EML5
name: Echinoderm microtubule-associated protein-like 5 (EMAP-5)
length: 1969
go: ENSG00000165521;
snps: rs17188228
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; catalytic activity [GO:0003824]; microtubule binding [GO:0008017]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q05BV3-1; Sequence=Displayed; Name=2; IsoId=Q05BV3-2; Sequence=VSP_041260, VSP_041261; 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=4; IsoId=Q05BV3-4; Sequence=VSP_041258, VSP_041259; 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=Q05BV3-5; Sequence=VSP_040645; 


uniprotID: Q15369
geneSymbol: ELOC
length: 112
go: ENSG00000154582;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
reactome:
R-HSA-112382;R-HSA-1234176;R-HSA-167152;R-HSA-167200;R-HSA-167238;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-180585;R-HSA-674695;R-HSA-6796648;R-HSA-75955;R-HSA-8951664;R-HSA-9010553;R-HSA-983168;

pdb:
1LM8;1LQB;1VCB;2C9W;2IZV;2MA9;3DCG;3ZKJ;3ZNG;3ZRC;3ZRF;3ZTC;3ZTD;3ZUN;4AJY;4AWJ;4B95;4B9K;4BKS;4BKT;4N9F;4W9C;4W9D;4W9E;4W9F;4W9G;4W9H;4W9I;4W9J;4W9K;4W9L;4WQO;5BO4;5LLI;5N4W;5NVV;5NVW;5NVX;5NVY;5NVZ;5NW0;5NW1;5NW2;5T35;6BVB;6C5X;6FMI;6FMJ;6FMK;6GFX;6GFY;6GFZ;6GMN;6GMQ;6GMR;6GMX;

name:
Elongin-C (EloC) (Elongin 15 kDa subunit) (RNA polymerase II transcription factor SIII subunit C) (SIII p15) (Transcription elongation factor B polypeptide 1)

sequence:
MDGEEKTYGGCEGPDAMYVKLISSDGHEFIVKREHALTSGTIKAMLSGPGQFAENETNEVNFREIPSHVLSKVCMYFTYKVRYTNSSTEIPEFPIAPEIALELLMAANFLDC

opentargets:
cytosol [GO:0005829]; elongin complex [GO:0070449]; nucleoplasm [GO:0005654]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15369-1; Sequence=Displayed; Name=2; IsoId=Q15369-2; Sequence=VSP_045955; Note=No experimental confirmation available.; 


uniprotID: Q8TE02
geneSymbol: ELP5
reactome: R-HSA-3214847;
name: Elongator complex protein 5 (Dermal papilla-derived protein 6) (S-phase 2 protein)
length: 316
go: ENSG00000170291;
snps: rs2521988 rs17849664
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Elongator holoenzyme complex [GO:0033588]; nucleus [GO:0005634]; positive regulation of cell migration [GO:0030335]; tRNA wobble uridine modification [GO:0002098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TE02-1; Sequence=Displayed; Name=2; IsoId=Q8TE02-2; Sequence=VSP_023923; Name=3; IsoId=Q8TE02-3; Sequence=VSP_023920, VSP_023921; Name=4; IsoId=Q8TE02-4; Sequence=VSP_023922; 


uniprotID: O95834
geneSymbol: EML2
pdb: 4CGB;
name: Echinoderm microtubule-associated protein-like 2 (EMAP-2) (HuEMAP-2)
length: 649
go: ENSG00000125746;
snps: rs12151009 rs7252175 rs1545040 rs3816045
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; microtubule cytoskeleton [GO:0015630]; spindle [GO:0005819]; microtubule binding [GO:0008017]; protein C-terminus binding [GO:0008022]; signaling receptor binding [GO:0005102]; tubulin binding [GO:0015631]; negative regulation of microtubule polymerization [GO:0031115]; regulation of microtubule nucleation [GO:0010968]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95834-1; Sequence=Displayed; Name=2; IsoId=O95834-2; Sequence=VSP_042541; Note=No experimental confirmation available.; Name=3; IsoId=O95834-3; Sequence=VSP_047538; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11694528}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:11694528}. Note=Colocalizes with the microtubule cytoskeleton. Colocalizes with the mitotic spindle.


uniprotID: Q9BV81
geneSymbol: EMC6
name: ER membrane protein complex subunit 6 (Transmembrane protein 93)
length: 110
go: ENSG00000127774;
sequence:
MAAVVAKREGPPFISEAAVRGNAAVLDYCRTSVSALSGATAGILGLTGLYGFIFYLLASVLLSLLLILKAGRRWNKYFKSRRPLFTGGLIGGLFTYVLFWTFLYGMVHVY

opentargets:
ER membrane protein complex [GO:0072546]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; integral component of omegasome membrane [GO:0097631]; autophagosome assembly [GO:0000045]; protein folding in endoplasmic reticulum [GO:0034975]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:22119785}; Multi-pass membrane protein {ECO:0000269|PubMed:22119785}.


uniprotID: Q9NPA0
geneSymbol: EMC7
pdb: 1B0G;1LP9;2J8U;2JCC;2UWE;
name: ER membrane protein complex subunit 7
length: 242
go: ENSG00000134153;
sequence:

opentargets:
ER membrane protein complex [GO:0072546]; integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:22119785}; Single-pass type I membrane protein {ECO:0000269|PubMed:22119785}.


uniprotID: P54851
geneSymbol: EMP2
name: Epithelial membrane protein 2 (EMP-2) (Protein XMP)
length: 167
go: ENSG00000213853;
snps: rs730882194 rs587777482
sequence:
MLVLLAFIIAFHITSAALLFIATVDNAWWVGDEFFADVWRICTNNTNCTVINDSFQEYSTLQAVQATMILSTILCCIAFFIFVLQLFRLKQGERFVLTSIIQLMSCLCVMIAASIYTDRREDIHDKNAKFYPVTREGSYGYSYILAWVAFACTFISGMMYLILRKRK

opentargets:
apical part of cell [GO:0045177]; apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; integrin binding [GO:0005178]; kinase binding [GO:0019900]; protein kinase binding [GO:0019901]; actin filament organization [GO:0007015]; actin-mediated cell contraction [GO:0070252]; activation of protein kinase activity [GO:0032147]; bleb assembly [GO:0032060]; blood vessel endothelial cell migration [GO:0043534]; cell adhesion [GO:0007155]; cell death [GO:0008219]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cell-matrix adhesion [GO:0007160]; early endosome to late endosome transport [GO:0045022]; embryo implantation [GO:0007566]; membrane raft assembly [GO:0001765]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of integrin-mediated signaling pathway [GO:2001046]; protein localization to cell surface [GO:0034394]; protein localization to plasma membrane [GO:0072659]; regulation of angiogenesis [GO:0045765]; regulation of cell-matrix adhesion [GO:0001952]; regulation of endothelial cell migration [GO:0010594]; regulation of glomerular filtration [GO:0003093]; regulation of kinase activity [GO:0043549]; regulation of vasculogenesis [GO:2001212]; T cell mediated cytotoxicity [GO:0001913]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:O88662}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:12107182, ECO:0000269|PubMed:21637765}. Apical cell membrane {ECO:0000250|UniProtKB:O88662}. Membrane raft {ECO:0000269|PubMed:21637765}. Cytoplasm {ECO:0000269|PubMed:21637765}. Nucleus {ECO:0000250|UniProtKB:Q66HH2}. Note=Localizes in cytoplasm, foot processes and cell bodies of podocytes and nucleus of endothelial cells of kidney. Localizes to the apical cell surface in the luminal epithelium and glandular epithelium. Colocalized with ITGB1 and GPI-anchor proteins on plasma membrane. {ECO:0000250|UniProtKB:O88662, ECO:0000250|UniProtKB:Q66HH2}.


uniprotID: Q6UN15
geneSymbol: FIP1L1
reactome: R-HSA-109688;R-HSA-159231;R-HSA-72163;R-HSA-72187;R-HSA-77595;
length: 594
go: ENSG00000145216;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Pre-mRNA 3'-end-processing factor FIP1 (hFip1) (FIP1-like 1 protein) (Factor interacting with PAP) (Rearranged in hypereosinophilia)

sequence:

opentargets:
mRNA cleavage and polyadenylation specificity factor complex [GO:0005847]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA polyadenylation [GO:0006378]; mRNA splicing, via spliceosome [GO:0000398]; pre-mRNA cleavage required for polyadenylation [GO:0098789]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6UN15-1; Sequence=Displayed; Name=3; IsoId=Q6UN15-3; Sequence=VSP_016728, VSP_016729, VSP_016730; Name=4; IsoId=Q6UN15-4; Sequence=VSP_016728, VSP_016731, VSP_016732; Name=5; IsoId=Q6UN15-5; Sequence=VSP_016728, VSP_046213; Note=No experimental confirmation available.; 


uniprotID: Q8N8Q3
geneSymbol: ENDOV
pdb: 4NSP;
name: Endonuclease V (hEndoV) (EC 3.1.26.-) (Inosine-specific endoribonuclease)
length: 282
go: ENSG00000173818;
snps: rs35549084 rs34933300 rs41298706 rs41299812 rs35929621
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; DNA binding [GO:0003677]; endodeoxyribonuclease activity, producing 5'-phosphomonoesters [GO:0016888]; endoribonuclease activity, producing 5'-phosphomonoesters [GO:0016891]; magnesium ion binding [GO:0000287]; single-stranded RNA binding [GO:0003727]; DNA repair [GO:0006281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N8Q3-1; Sequence=Displayed; Name=2; IsoId=Q8N8Q3-2; Sequence=VSP_035229; Name=3; IsoId=Q8N8Q3-3; Sequence=VSP_035229, VSP_035231; Name=4; IsoId=Q8N8Q3-4; Sequence=VSP_035228, VSP_035230; Name=5; IsoId=Q8N8Q3-5; Sequence=VSP_035228; 


uniprotID: Q9UKH3
geneSymbol: ERVK-9
length: 698
name:
Endogenous retrovirus group K member 9 Env polyprotein (EnvK4 protein) (Envelope polyprotein) (HERV-K(C6) envelope protein) (HERV-K109 envelope protein) (HERV-K_6q14.1 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:

location:
SUBCELLULAR LOCATION: Transmembrane protein: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Surface protein: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=The surface protein is not anchored to the membrane, but localizes to the extracellular surface through its binding to TM. {ECO:0000250}.; SUBCELLULAR LOCATION: Endogenous retrovirus group K member 9 Env polyprotein: Virion {ECO:0000250}.


uniprotID: P26885
geneSymbol: FKBP2
pdb: 2PBC;4NNR;
length: 142
go: ENSG00000173486;
snps: rs4672
name:
Peptidyl-prolyl cis-trans isomerase FKBP2 (PPIase FKBP2) (EC 5.2.1.8) (13 kDa FK506-binding protein) (13 kDa FKBP) (FKBP-13) (FK506-binding protein 2) (FKBP-2) (Immunophilin FKBP13) (Rotamase)

sequence:
MRLSWFRVLTVLSICLSAVATATGAEGKRKLQIGVKKRVDHCPIKSRKGDVLHMHYTGKLEDGTEFDSSLPQNQPFVFSLGTGQVIKGWDQGLLGMCEGEKRKLVIPSELGYGERGAPPKIPGGATLVFEVELLKIERRTEL

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; FK506 binding [GO:0005528]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.


uniprotID: Q9HCE0
geneSymbol: EPG5
name: Ectopic P granules protein 5 homolog
length: 2579
go: ENSG00000152223;
opentargets: cytoplasm [GO:0005737]; autophagosome maturation [GO:0097352]; autophagy [GO:0006914]
sequence:

snps:
rs59422275 rs201757275 rs3744999 rs3744998 rs3744997 rs1893523 rs34064739 rs1272061911 rs34674177 rs116076204 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCE0-1; Sequence=Displayed; Name=2; IsoId=Q9HCE0-2; Sequence=VSP_028435; 


uniprotID: P54753
geneSymbol: EPHB3
reactome: R-HSA-2682334;R-HSA-3928662;R-HSA-3928664;R-HSA-3928665;
pdb: 3P1I;3ZFY;5L6O;5L6P;
length: 998
go: ENSG00000182580;
snps: rs56029711 rs56103851 rs56129875 rs371378866
name:
Ephrin type-B receptor 3 (EC 2.7.10.1) (EPH-like tyrosine kinase 2) (EPH-like kinase 2) (Embryonic kinase 2) (EK2) (hEK2) (Tyrosine-protein kinase TYRO6)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; axon guidance receptor activity [GO:0008046]; ephrin receptor activity [GO:0005003]; protein tyrosine kinase activity [GO:0004713]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; angiogenesis [GO:0001525]; axon guidance [GO:0007411]; axonal fasciculation [GO:0007413]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; central nervous system projection neuron axonogenesis [GO:0021952]; corpus callosum development [GO:0022038]; dendritic spine development [GO:0060996]; dendritic spine morphogenesis [GO:0060997]; digestive tract morphogenesis [GO:0048546]; ephrin receptor signaling pathway [GO:0048013]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of synapse assembly [GO:0051965]; protein autophosphorylation [GO:0046777]; regulation of axonogenesis [GO:0050770]; regulation of cell-cell adhesion [GO:0022407]; regulation of GTPase activity [GO:0043087]; retinal ganglion cell axon guidance [GO:0031290]; roof of mouth development [GO:0060021]; substrate adhesion-dependent cell spreading [GO:0034446]; thymus development [GO:0048538]; urogenital system development [GO:0001655]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15536074}; Single-pass type I membrane protein {ECO:0000269|PubMed:15536074}. Cell projection, dendrite {ECO:0000250}.


uniprotID: Q96PY5
geneSymbol: FMNL2
reactome: R-HSA-5663220;
pdb: 4YC7;
name: Formin-like protein 2 (Formin homology 2 domain-containing protein 2)
length: 1086
go: ENSG00000157827;
snps: rs34119671 rs11897929
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; Rho GTPase binding [GO:0017048]; cortical actin cytoskeleton organization [GO:0030866]; cytoskeleton organization [GO:0007010]; regulation of cell morphogenesis [GO:0022604]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96PY5-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96PY5-3; Sequence=VSP_025887; 


uniprotID: Q01740
geneSymbol: FMO1
reactome: R-HSA-217271;
length: 532
go: ENSG00000010932;
drug: DB00185;DB00501;DB04871;DB00675;DB05294;DB00582;
snps: rs56841822 rs16864310 rs28360418 rs16864314 rs28360419 rs28360420 rs28360421 rs28360433
name:
Dimethylaniline monooxygenase [N-oxide-forming] 1 (EC 1.14.13.8) (Dimethylaniline oxidase 1) (Fetal hepatic flavin-containing monooxygenase 1) (FMO 1)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; flavin adenine dinucleotide binding [GO:0050660]; monooxygenase activity [GO:0004497]; N,N-dimethylaniline monooxygenase activity [GO:0004499]; NADP binding [GO:0050661]; drug metabolic process [GO:0017144]; NADPH oxidation [GO:0070995]; organic acid metabolic process [GO:0006082]; response to lipopolysaccharide [GO:0032496]; response to osmotic stress [GO:0006970]; toxin metabolic process [GO:0009404]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q01740-1; Sequence=Displayed; Name=2; IsoId=Q01740-2; Sequence=VSP_054543; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250|UniProtKB:Q95LA2}; Single-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q95LA2}; Single-pass membrane protein {ECO:0000255}.


uniprotID: Q5VT40
geneSymbol: FAM78B
name: Protein FAM78B
length: 261
go: ENSG00000188859;
sequence:


uniprotID: Q8WW52
geneSymbol: FAM151A
name: Protein FAM151A
length: 585
go: ENSG00000162391;
snps: rs17399297 rs17856620 rs17851843 rs1368883 rs11206394 rs2289015
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane [GO:0016020]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WW52-1; Sequence=Displayed; Name=2; IsoId=Q8WW52-2; Sequence=VSP_029357; Note=No experimental confirmation available.; 


uniprotID: Q96LR4
geneSymbol: FAM19A4
name: Protein FAM19A4 (Chemokine-like protein TAFA-4)
length: 140
go: ENSG00000163377;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15028294}.
sequence:
MRSPRMRVCAKSVLLSHWLFLAYVLMVCCKLMSASSQHLRGHAGHHQIKQGTCEVVAVHRCCNKNRIEERSQTVKCSCFPGQVAGTTRAQPSCVEASIVIQKWWCHMNPCLEGEDCKVLPDYSGWSCSSGNKVKTTKVTR

opentargets:
extracellular region [GO:0005576]; regulation of membrane potential [GO:0042391]; regulation of sensory perception of pain [GO:0051930]


uniprotID: Q9NVH0
geneSymbol: EXD2
length: 621
go: ENSG00000081177;
snps: rs35010854 rs8007859
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26807646}.
name:
Exonuclease 3'-5' domain-containing protein 2 (EC 3.1.11.1) (Exonuclease 3'-5' domain-like-containing protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; 3'-5' exonuclease activity [GO:0008408]; exodeoxyribonuclease I activity [GO:0008852]; nucleic acid binding [GO:0003676]; single-stranded DNA 3'-5' exodeoxyribonuclease activity [GO:0008310]; DNA double-strand break processing [GO:0000729]; double-strand break repair [GO:0006302]; double-strand break repair via homologous recombination [GO:0000724]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVH0-1; Sequence=Displayed; Name=2; IsoId=Q9NVH0-2; Sequence=VSP_044367; 


uniprotID: Q9BZE7
geneSymbol: C22orf23
name: UPF0193 protein EVG1
length: 217
go: ENSG00000128346;
snps: rs35562630
sequence:


uniprotID: Q1W6H9
geneSymbol: FAM110C
name: Protein FAM110C
length: 321
go: ENSG00000184731;
sequence:

opentargets:
cell cortex [GO:0005938]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; spindle pole [GO:0000922]; alpha-tubulin binding [GO:0043014]; positive regulation of cell migration [GO:0030335]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of cell projection assembly [GO:0060491]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17499476, ECO:0000269|PubMed:19698782}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17499476, ECO:0000269|PubMed:19698782}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:17499476, ECO:0000269|PubMed:19698782}. Nucleus {ECO:0000269|PubMed:17499476, ECO:0000269|PubMed:19698782}. Note=Colocalizes with microtubules during interphase (PubMed:17499476). Detected at the mitotic spindle poles (PubMed:17499476). Colocalizes with AKT1 at the cell cortex (PubMed:19698782). {ECO:0000269|PubMed:17499476, ECO:0000269|PubMed:19698782}.


uniprotID: P0C5J1
geneSymbol: FAM86B2
name: Putative protein N-methyltransferase FAM86B2 (EC 2.1.1.-)
length: 330
opentargets: protein-containing complex [GO:0032991]; methyltransferase activity [GO:0008168]
snps: rs2684093 rs7817085
sequence:


uniprotID: Q9Y5M1
geneSymbol: FAM215A
name: Uncharacterized protein FAM215A (Apoptosis-related protein 2) (APR-2)
length: 114
sequence:
MVSLWVEGTFPPPGFGLAHVACSGHGMKQKRKPASSEPTPEDALGGSAVPVRFHLHPEGLLWCSRCFFSHGPKGSEPPGRSAGLQGATERSGRPSVQAQAQACENLVPATVWDG


uniprotID: Q8WUB2
geneSymbol: FAM216A
name: Protein FAM216A
length: 273
go: ENSG00000204856;
snps: rs17188964
sequence:


uniprotID: Q8N7L0
geneSymbol: FAM216B
name: Protein FAM216B
length: 139
go: ENSG00000179813;
snps: rs35889214
sequence:
MGQNWKRQQKLWNVPQLPFIRVPPSIYDTSLLKALNQGQQRYFYSIMRIYNSRPQWEALQTRYIHSLQHQQLLGYITQREALSYALVLRDSTKRASAKVAPQRTIPRKTSAMTRRCPSVLPVSVVLPRAQSKRRQVLRN


uniprotID: Q9NYF5
geneSymbol: FAM13B
reactome: R-HSA-194840;
name: Protein FAM13B (GAP-like protein N61)
length: 915
go: ENSG00000031003;
snps: rs33956817
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NYF5-1; Sequence=Displayed; Name=2; IsoId=Q9NYF5-2; Sequence=VSP_042048; Note=No experimental confirmation available.; Name=3; IsoId=Q9NYF5-3; Sequence=VSP_044870, VSP_044872, VSP_042048; Note=No experimental confirmation available.; 


uniprotID: Q5HY64
geneSymbol: FAM47C
name: Putative protein FAM47C
length: 1035
go: ENSG00000198173;
snps: rs1995914
sequence:


uniprotID: A6NHR8
geneSymbol: FAM47DP
name: Putative protein FAM47D
length: 397
sequence:


uniprotID: Q8TAV0
geneSymbol: FAM76A
name: Protein FAM76A
length: 307
go: ENSG00000009780;
opentargets: nucleoplasm [GO:0005654]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8TAV0-1; Sequence=Displayed; Name=2; IsoId=Q8TAV0-2; Sequence=VSP_019772; Note=No experimental confirmation available.; Name=3; IsoId=Q8TAV0-3; Sequence=VSP_019771; Note=No experimental confirmation available.; Name=4; IsoId=Q8TAV0-4; Sequence=VSP_019771, VSP_019772; Note=No experimental confirmation available.; Name=5; IsoId=Q8TAV0-5; Sequence=VSP_043250, VSP_019772; Note=No experimental confirmation available.; 


uniprotID: Q9Y5Q0
geneSymbol: FADS3
name: Fatty acid desaturase 3 (EC 1.14.19.-) (Cytochrome b5-related protein)
length: 445
go: ENSG00000221968;
snps: rs35479241 rs34511441
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; oxidoreductase activity [GO:0016491]; unsaturated fatty acid biosynthetic process [GO:0006636]


uniprotID: O15287
geneSymbol: FANCG
reactome: R-HSA-6783310;
name: Fanconi anemia group G protein (Protein FACG) (DNA repair protein XRCC9)
length: 622
go: ENSG00000221829;
snps: rs17880082 rs2237857 rs4986940 rs4986939 rs17881054 rs17885240 rs17878854 rs758407400
sequence:

opentargets:
cytosol [GO:0005829]; Fanconi anaemia nuclear complex [GO:0043240]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; damaged DNA binding [GO:0003684]; DNA repair [GO:0006281]; interstrand cross-link repair [GO:0036297]; mitochondrion organization [GO:0007005]; ovarian follicle development [GO:0001541]; response to radiation [GO:0009314]; spermatid development [GO:0007286]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18550849}. Cytoplasm {ECO:0000269|PubMed:18550849}. Note=The major form is nuclear. The minor form is cytoplasmic.


uniprotID: Q9Y4F1
geneSymbol: FARP1
pdb: 4H6Y;
length: 1045
go: ENSG00000152767;
snps: rs9300466 rs1458028855
name:
FERM, ARHGEF and pleckstrin domain-containing protein 1 (Chondrocyte-derived ezrin-like protein) (FERM, RhoGEF and pleckstrin domain-containing protein 1) (Pleckstrin homology domain-containing family C member 2) (PH domain-containing family C member 2)

sequence:

opentargets:
cell junction [GO:0030054]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; filopodium [GO:0030175]; cytoskeletal protein binding [GO:0008092]; Rac guanyl-nucleotide exchange factor activity [GO:0030676]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; dendrite morphogenesis [GO:0048813]; negative regulation of phosphatase activity [GO:0010923]; regulation of Rho protein signal transduction [GO:0035023]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y4F1-1; Sequence=Displayed; Name=2; IsoId=Q9Y4F1-2; Sequence=VSP_017976; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y4F1-3; Sequence=VSP_040989, VSP_040990; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse. Cell junction, synapse, synaptosome {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Cell projection, filopodium {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Note=Recruited to the cell membrane via interaction with CADM1. {ECO:0000250}.


uniprotID: Q92636
geneSymbol: NSMAF
reactome: R-HSA-5626978;
length: 917
go: ENSG00000035681;
snps: rs2228505
name:
Protein FAN (Factor associated with neutral sphingomyelinase activation) (Factor associated with N-SMase activation)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; sphingomyelin phosphodiesterase activator activity [GO:0016230]; ceramide metabolic process [GO:0006672]; positive regulation of apoptotic process [GO:0043065]; positive regulation of ceramide biosynthetic process [GO:2000304]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92636-1; Sequence=Displayed; Name=2; IsoId=Q92636-2; Sequence=VSP_042036; Note=No experimental confirmation available.; 


uniprotID: Q14517
geneSymbol: FAT1
length: 4588
go: ENSG00000083857;
snps: rs3733415 rs555992573 rs874111 rs753226094 rs2304867 rs6836935 rs373241719 rs11731738
name:
Protocadherin Fat 1 (Cadherin family member 7) (Cadherin-related tumor suppressor homolog) (Protein fat homolog) [Cleaved into: Protocadherin Fat 1, nuclear form]

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell-cell junction [GO:0005911]; extracellular exosome [GO:0070062]; filopodium [GO:0030175]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; actin filament organization [GO:0007015]; anatomical structure morphogenesis [GO:0009653]; camera-type eye morphogenesis [GO:0048593]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; cell-cell adhesion [GO:0098609]; cell-cell signaling [GO:0007267]; epithelial cell morphogenesis [GO:0003382]; establishment or maintenance of cell polarity [GO:0007163]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15922730}; Single-pass type I membrane protein {ECO:0000269|PubMed:15922730}. Nucleus {ECO:0000269|PubMed:15922730}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:15922730}.


uniprotID: Q9NYQ8
geneSymbol: FAT2
length: 4349
go: ENSG00000086570;
name:
Protocadherin Fat 2 (hFat2) (Cadherin family member 8) (Multiple epidermal growth factor-like domains protein 1) (Multiple EGF-like domains protein 1)

sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; cell-substrate adhesion [GO:0031589]; epithelial cell migration [GO:0010631]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

snps:
rs11739693 rs3734061 rs1432862 rs9324700 rs3734056 rs3734055 rs2304053 rs6872614 rs35640822 rs2278371 rs2278370 rs10044879 rs34464977 rs34493925 rs6892335 rs3734053 rs7718054 rs2304024 rs2053028 rs770597316 rs6650971 rs35963695 rs2304029 rs1105168 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction {ECO:0000269|PubMed:17900869}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:O88277}. Note=Localized at adhesion zippers (early state of adherens junctions) of keratinocytes. {ECO:0000269|PubMed:17900869}.


uniprotID: Q5XKK7
geneSymbol: FAM219B
name: Protein FAM219B
length: 198
go: ENSG00000178761;
sequence:
MATAEPSGRALRLSTPGPRPSGARDRAPGAAGPPSGQIGNRALRLGERTPAAVEKRGPYMVTRAPSIQAKLQKHRDLAKAVLRRKGMLGASPNRPDSSGKRSVKFNKGYTALSQSPDENLVSLDSDSDGELGSRYSSGYSSAEQVNQDVSRQLLQDGYHLDEIPDDEDLDLIPPKPMASSTCSCCWCCLGDSSSCTLQ

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5XKK7-1; Sequence=Displayed; Name=2; IsoId=Q5XKK7-2; Sequence=VSP_019499, VSP_019500; Note=No experimental confirmation available.; Name=3; IsoId=Q5XKK7-3; Sequence=VSP_036115, VSP_036116; 


uniprotID: Q8N612
geneSymbol: FAM160A2
name: FTS and Hook-interacting protein (FHIP) (Protein FAM160A2)
length: 972
go: ENSG00000051009;
snps: rs35932378 rs3750944 rs3750943 rs11040808
sequence:

opentargets:
cytosol [GO:0005829]; FHF complex [GO:0070695]; early endosome to late endosome transport [GO:0045022]; endosome organization [GO:0007032]; endosome to lysosome transport [GO:0008333]; lysosome organization [GO:0007040]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N612-1; Sequence=Displayed; Name=2; IsoId=Q8N612-2; Sequence=VSP_021129; Note=No experimental confirmation available.; Name=3; IsoId=Q8N612-3; Sequence=VSP_021128, VSP_021130, VSP_021131; 


uniprotID: Q9H790
geneSymbol: EXO5
name: Exonuclease V (Exo V) (hExo5) (EC 3.1.-.-) (Defects in morphology protein 1 homolog)
length: 373
go: ENSG00000164002;
snps: rs1134586 rs11208299
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 4 iron, 4 sulfur cluster binding [GO:0051539]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; single-stranded DNA 3'-5' exodeoxyribonuclease activity [GO:0008310]; single-stranded DNA 5'-3' exodeoxyribonuclease activity [GO:0045145]; interstrand cross-link repair [GO:0036297]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23095756}. Cytoplasm, cytosol {ECO:0000269|PubMed:23095756}. Note=Localizes to repair foci in response to DNA damage.


uniprotID: A6NNJ1
geneSymbol: FAM90A9P
name: Putative protein FAM90A9P
length: 464
sequence:


uniprotID: Q9NTX9
geneSymbol: FAM217B
name: Protein FAM217B
length: 383
go: ENSG00000196227;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]
snps: rs1180582304 rs6027210
sequence:


uniprotID: O00519
geneSymbol: FAAH
reactome: R-HSA-2142753;
name: Fatty-acid amide hydrolase 1 (EC 3.5.1.99) (Anandamide amidohydrolase 1) (Oleamide hydrolase 1)
length: 579
go: ENSG00000117480;
drug: DB06894;DB08400;DB08385;DB00316;DB02465;DB00818;DB00599;
snps: rs324420 rs772931153
sequence:

opentargets:
cytoskeleton [GO:0005856]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; acylglycerol lipase activity [GO:0047372]; amidase activity [GO:0004040]; anandamide amidohydrolase activity [GO:0103073]; fatty acid amide hydrolase activity [GO:0017064]; oleamide hydrolase activity [GO:0102077]; arachidonic acid metabolic process [GO:0019369]; fatty acid catabolic process [GO:0009062]

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:17015445}; Single-pass membrane protein {ECO:0000269|PubMed:17015445}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17015445}. Note=Seems to be attached to intracellular membranes and a portion of the cytoskeletal network.


uniprotID: Q8N0W7
geneSymbol: FMR1NB
length: 255
go: ENSG00000176988;
opentargets: integral component of membrane [GO:0016021]
snps: rs764631
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Fragile X mental retardation 1 neighbor protein (Cancer/testis antigen 37) (CT37) (Sarcoma antigen NY-SAR-35)

sequence:


uniprotID: O60667
geneSymbol: FCMR
length: 390
go: ENSG00000162894;
name:
Fas apoptotic inhibitory molecule 3 (IgM Fc fragment receptor) (Regulator of Fas-induced apoptosis Toso)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; cellular defense response [GO:0006968]; immune system process [GO:0002376]; negative regulation of apoptotic process [GO:0043066]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60667-1; Sequence=Displayed; Name=2; IsoId=O60667-2; Sequence=VSP_042947; Note=No experimental confirmation available.; Name=3; IsoId=O60667-3; Sequence=VSP_045188, VSP_045189; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000269|PubMed:21908424}; Single-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000269|PubMed:21908424}. Note=Detected in the serum. {ECO:0000269|PubMed:21908424}.


uniprotID: Q9BTP7
geneSymbol: FAAP24
reactome: R-HSA-6783310;
pdb: 2LYH;2M9M;2M9N;4BXO;4M6W;
name: Fanconi anemia core complex-associated protein 24 (Fanconi anemia-associated protein of 24 kDa)
length: 215
go: ENSG00000131944;
snps: rs36017455 rs2304103 rs3816032
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17289582}.
sequence:

opentargets:
Fanconi anaemia nuclear complex [GO:0043240]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; interstrand cross-link repair [GO:0036297]


uniprotID: Q00597
geneSymbol: FANCC
reactome: R-HSA-6783310;R-HSA-6796648;
name: Fanconi anemia group C protein (Protein FACC)
length: 558
go: ENSG00000158169;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Fanconi anaemia nuclear complex [GO:0043240]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; brain morphogenesis [GO:0048854]; cellular response to oxidative stress [GO:0034599]; DNA repair [GO:0006281]; germ cell development [GO:0007281]; interstrand cross-link repair [GO:0036297]; myeloid cell homeostasis [GO:0002262]; neuronal stem cell population maintenance [GO:0097150]; nucleotide-excision repair [GO:0006289]; protein-containing complex assembly [GO:0065003]; removal of superoxide radicals [GO:0019430]

snps:
rs1800361 rs4647419 rs1800362 rs1800364 rs1800365 rs1800366 rs1800367 rs1800368 rs121917785 rs104886458 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.


uniprotID: Q6P587
geneSymbol: FAHD1
reactome: R-HSA-71403;
pdb: 1SAW;
length: 224
go: ENSG00000180185;
snps: rs3743853
name:
Acylpyruvase FAHD1, mitochondrial (EC 3.7.1.5) (Fumarylacetoacetate hydrolase domain-containing protein 1) (FAH domain-containing protein 1) (Oxaloacetate decarboxylase) (OAA decarboxylase) (EC 4.1.1.112) (YisK-like protein)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; acetylpyruvate hydrolase activity [GO:0018773]; acylpyruvate hydrolase activity [GO:0047621]; fumarylpyruvate hydrolase activity [GO:0034545]; metal ion binding [GO:0046872]; oxaloacetate decarboxylase activity [GO:0008948]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P587-1; Sequence=Displayed; Name=2; IsoId=Q6P587-2; Sequence=VSP_013741; Note=No experimental confirmation available.; Name=3; IsoId=Q6P587-3; Sequence=VSP_046259; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21878618}. Cytoplasm, cytosol {ECO:0000269|PubMed:21878618}.


uniprotID: Q9NPI8
geneSymbol: FANCF
reactome: R-HSA-6783310;
pdb: 2IQC;
name: Fanconi anemia group F protein (Protein FACF)
length: 374
go: ENSG00000183161;
snps: rs7103293 rs45451294
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11063725, ECO:0000269|PubMed:18550849}.
sequence:

opentargets:
Fanconi anaemia nuclear complex [GO:0043240]; nucleoplasm [GO:0005654]; cellular response to DNA damage stimulus [GO:0006974]; interstrand cross-link repair [GO:0036297]; ovarian follicle development [GO:0001541]; protein ubiquitination [GO:0016567]; spermatogenesis [GO:0007283]


uniprotID: Q8IZU0
geneSymbol: FAM9B
name: Protein FAM9B
length: 186
go: ENSG00000177138;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12213195}.
sequence:
MAAWGKKHAGKDPVRDECEERNRFTETREEDVTDEHGEREPFAETDEHTGANTKKPEDTAEDLTAKRKRMKMDKTCSKTKNKSKHALRKKQLKRQKRDYIHSLKLLNVLEEYITDEQKEEEEEEGEEEELIRIFQEQQKKWQQYRSVRRERLKEMKLLRDQFVKALEDFEDLCDRVFSDEDSELDN

opentargets:
nucleoplasm [GO:0005654]; synaptonemal complex [GO:0000795]; meiotic cell cycle [GO:0051321]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZU0-1; Sequence=Displayed; Name=2; IsoId=Q8IZU0-2; Sequence=VSP_055087, VSP_055088; Note=No experimental confirmation available.; 


uniprotID: Q14296
geneSymbol: FASTK
name: Fas-activated serine/threonine kinase (FAST kinase) (EC 2.7.11.8)
length: 549
go: ENSG00000164896;
snps: rs758691941 rs2288648
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; ATP binding [GO:0005524]; Fas-activated serine/threonine kinase activity [GO:0033867]; protein serine/threonine kinase activity [GO:0004674]; RNA binding [GO:0003723]; apoptotic signaling pathway [GO:0097190]; protein phosphorylation [GO:0006468]; regulation of RNA splicing [GO:0043484]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=1; IsoId=Q14296-1; Sequence=Displayed; Name=2; IsoId=Q14296-2; Sequence=VSP_042746, VSP_042747; Note=No experimental confirmation available.; Name=3; IsoId=Q14296-3; Sequence=VSP_044811; Note=No experimental confirmation available.; Name=4; IsoId=Q14296-4; Sequence=VSP_058246; 

location:
SUBCELLULAR LOCATION: Isoform 4: Mitochondrion matrix {ECO:0000269|PubMed:25704814}. Note=Colocalizes with mitochondrial RNA granules. {ECO:0000269|PubMed:25704814}.


uniprotID: Q8N2X6
geneSymbol: EXOC3-AS1
name: Uncharacterized protein EXOC3-AS1 (EXOC3 antisense RNA 1) (EXOC3 antisense gene protein 1)
length: 119
opentargets: extracellular region [GO:0005576]
snps: rs10035653 rs10035612
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MPAVFMLASSSALQCGRGVPRFPRTEVGAGHSVNEETKAEKVGNQTSVIPATSRQAALGTSWTQRRTQPLQERSHWHPRGNNASGMGGHRMFPGPLRGPAAQVLENECGSLGRAAEGRS


uniprotID: Q9NX05
geneSymbol: FAM120C
name: Constitutive coactivator of PPAR-gamma-like protein 2 (Protein FAM120C) (Tumor antigen BJ-HCC-21)
length: 1096
opentargets: nucleus [GO:0005634]; RNA binding [GO:0003723]
snps: rs2495783 rs41304786
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NX05-1; Sequence=Displayed; Name=2; IsoId=Q9NX05-2; Sequence=VSP_010519, VSP_010520; 


uniprotID: A0A1B0GW35
geneSymbol: EXOC1L
name: Exocyst complex component 1-like
length: 172
go: ENSG00000250821;
sequence:
MSSLVKEDLEKKLFKPLSQNLYEFIEIEFSVQDRYYLCVSVTKKEEVKIVMVKHYRIGLDEKYEVTKKWSLNDLQMIDGKEADTDNPFFDLHFKKVYSLEAYSCASKYAFARTVNKLNHAYLKKDLQIVNFDSTYINDDSIWSSNNKDCLVLMRICFYAFNLVCLSLCPLPL


uniprotID: A8MTA8
geneSymbol: FAM166B
name: Protein FAM166B
length: 275
go: ENSG00000215187;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A8MTA8-1; Sequence=Displayed; Name=2; IsoId=A8MTA8-2; Sequence=VSP_034438, VSP_034439; 


uniprotID: A1A519
geneSymbol: FAM170A
name: Protein FAM170A (Zinc finger domain-containing protein) (Zinc finger protein ZNFD)
length: 330
go: ENSG00000164334;
snps: rs328694
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20162441}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A1A519-1; Sequence=Displayed; Name=2; IsoId=A1A519-2; Sequence=VSP_032557; Name=3; IsoId=A1A519-3; Sequence=VSP_032556, VSP_032557; Name=4; IsoId=A1A519-4; Sequence=VSP_035475, VSP_035476, VSP_035477; Note=No experimental confirmation available.; 


uniprotID: Q5T1J6
geneSymbol: FAM182A
name: Protein FAM182A
length: 154
sequence:
MQGIDRWIPSIPPLQNHSAVNRRHFSAPQKLHADCEKEMLDGGVPGTTVRVSFDFSCLEMVRELWMWNVEEEEHEVGISTWGGQHCGCPAKSLPGPHPGGVSAPQSASQLMVKLLVWQKSVHKLRKIAAQSEEWSCVLNKISTHPFVSKEHDGT


uniprotID: Q5VUB5
geneSymbol: FAM171A1
name: Protein FAM171A1 (Astroprincin)
length: 890
go: ENSG00000148468;
opentargets: integral component of membrane [GO:0016021]
snps: rs3814165
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: O60774
geneSymbol: FMO6P
length: 539
snps: rs61731844 rs2272797
name:
Putative dimethylaniline monooxygenase [N-oxide-forming] 6 (EC 1.14.13.8) (Dimethylaniline oxidase 6) (Flavin-containing monooxygenase 6) (FMO 6)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; flavin adenine dinucleotide binding [GO:0050660]; monooxygenase activity [GO:0004497]; N,N-dimethylaniline monooxygenase activity [GO:0004499]; NADP binding [GO:0050661]

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000255}.


uniprotID: A8MZ36
geneSymbol: EVPLL
name: Envoplakin-like protein
length: 301
go: ENSG00000214860;
snps: rs570145
sequence:

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; membrane [GO:0016020]; intermediate filament binding [GO:0019215]; protein binding, bridging [GO:0030674]; structural molecule activity [GO:0005198]; epidermis development [GO:0008544]; intermediate filament cytoskeleton organization [GO:0045104]; wound healing [GO:0042060]


uniprotID: Q5JUQ0
geneSymbol: FAM78A
name: Protein FAM78A
length: 283
go: ENSG00000126882;
sequence:


uniprotID: Q96GK7
geneSymbol: FAHD2A
name: Fumarylacetoacetate hydrolase domain-containing protein 2A (EC 3.-.-.-)
length: 314
go: ENSG00000115042;
opentargets: hydrolase activity [GO:0016787]; metal ion binding [GO:0046872]
snps: rs1045332
sequence:


uniprotID: Q8NB91
geneSymbol: FANCB
reactome: R-HSA-6783310;
length: 859
go: ENSG00000181544;
snps: rs200161949
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15502827}.
name:
Fanconi anemia group B protein (Protein FACB) (Fanconi anemia-associated polypeptide of 95 kDa) (FAAP95)

sequence:

opentargets:
Fanconi anaemia nuclear complex [GO:0043240]; nucleoplasm [GO:0005654]; interstrand cross-link repair [GO:0036297]; negative regulation of double-strand break repair via homologous recombination [GO:2000042]; positive regulation of double-strand break repair via homologous recombination [GO:1905168]; replication-born double-strand break repair via sister chromatid exchange [GO:1990414]


uniprotID: Q14289
geneSymbol: PTK2B
reactome: R-HSA-391160;R-HSA-4420097;R-HSA-9020558;
length: 1009
go: ENSG00000120899;
drug: DB01645;DB01097;
snps: rs56175011 rs35174236 rs55747955 rs751019 rs56263944
pdb:
2FO6;2LK4;3CC6;3ET7;3FZO;3FZP;3FZR;3FZS;3FZT;3GM1;3GM2;3GM3;3H3C;3U3F;4EKU;4H1J;4H1M;4R32;4XEF;4XEK;4XEV;5TO8;5TOB;

name:
Protein-tyrosine kinase 2-beta (EC 2.7.10.2) (Calcium-dependent tyrosine kinase) (CADTK) (Calcium-regulated non-receptor proline-rich tyrosine kinase) (Cell adhesion kinase beta) (CAK-beta) (CAKB) (Focal adhesion kinase 2) (FADK 2) (Proline-rich tyrosine kinase 2) (Related adhesion focal tyrosine kinase) (RAFTK)

sequence:

opentargets:
apical dendrite [GO:0097440]; cell body [GO:0044297]; cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; membrane raft [GO:0045121]; neuronal cell body [GO:0043025]; NMDA selective glutamate receptor complex [GO:0017146]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; postsynaptic density [GO:0014069]; 3-phosphoinositide-dependent protein kinase binding [GO:0043423]; ATP binding [GO:0005524]; calmodulin-dependent protein kinase activity [GO:0004683]; NMDA glutamate receptor activity [GO:0004972]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein C-terminus binding [GO:0008022]; protein tyrosine kinase activity [GO:0004713]; protein-containing complex binding [GO:0044877]; ubiquitin protein ligase binding [GO:0031625]; activation of GTPase activity [GO:0090630]; activation of Janus kinase activity [GO:0042976]; adaptive immune response [GO:0002250]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; blood vessel endothelial cell migration [GO:0043534]; bone resorption [GO:0045453]; cell differentiation [GO:0030154]; cell surface receptor signaling pathway [GO:0007166]; cellular defense response [GO:0006968]; cellular response to fluid shear stress [GO:0071498]; cellular response to retinoic acid [GO:0071300]; chemokine-mediated signaling pathway [GO:0070098]; epidermal growth factor receptor signaling pathway [GO:0007173]; focal adhesion assembly [GO:0048041]; glial cell proliferation [GO:0014009]; integrin-mediated signaling pathway [GO:0007229]; interleukin-2-mediated signaling pathway [GO:0038110]; ionotropic glutamate receptor signaling pathway [GO:0035235]; long-term synaptic depression [GO:0060292]; long-term synaptic potentiation [GO:0060291]; MAPK cascade [GO:0000165]; marginal zone B cell differentiation [GO:0002315]; negative regulation of apoptotic process [GO:0043066]; negative regulation of bone mineralization [GO:0030502]; negative regulation of cell proliferation [GO:0008285]; negative regulation of muscle cell apoptotic process [GO:0010656]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of potassium ion transport [GO:0043267]; neuron projection development [GO:0031175]; oocyte maturation [GO:0001556]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of angiogenesis [GO:0045766]; positive regulation of B cell chemotaxis [GO:2000538]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of JNK cascade [GO:0046330]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of neuron projection development [GO:0010976]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of translation [GO:0045727]; positive regulation of ubiquitin-dependent protein catabolic process [GO:2000060]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; protein-containing complex assembly [GO:0065003]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of calcium-mediated signaling [GO:0050848]; regulation of cell adhesion [GO:0030155]; regulation of cell proliferation [GO:0042127]; regulation of cell shape [GO:0008360]; regulation of cGMP-mediated signaling [GO:0010752]; regulation of establishment of cell polarity [GO:2000114]; regulation of inositol trisphosphate biosynthetic process [GO:0032960]; regulation of macrophage chemotaxis [GO:0010758]; regulation of NMDA receptor activity [GO:2000310]; regulation of release of sequestered calcium ion into cytosol [GO:0051279]; regulation of synaptic plasticity [GO:0048167]; regulation of ubiquitin-dependent protein catabolic process [GO:2000058]; response to calcium ion [GO:0051592]; response to cAMP [GO:0051591]; response to cocaine [GO:0042220]; response to ethanol [GO:0045471]; response to glucose [GO:0009749]; response to hormone [GO:0009725]; response to hydrogen peroxide [GO:0042542]; response to hypoxia [GO:0001666]; response to immobilization stress [GO:0035902]; response to lithium ion [GO:0010226]; response to mechanical stimulus [GO:0009612]; response to osmotic stress [GO:0006970]; signal complex assembly [GO:0007172]; signal transduction [GO:0007165]; sprouting angiogenesis [GO:0002040]; stress fiber assembly [GO:0043149]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14289-1; Sequence=Displayed; Name=2; Synonyms=PYK2H; IsoId=Q14289-2; Sequence=VSP_004981; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, focal adhesion. Cell projection, lamellipodium. Cytoplasm, cell cortex. Nucleus. Note=Interaction with NPHP1 induces the membrane-association of the kinase. Colocalizes with integrins at the cell periphery.


uniprotID: Q8N9Y4
geneSymbol: FAM181A
name: Protein FAM181A
length: 354
go: ENSG00000140067;
snps: rs10141024 rs34220325
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9Y4-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8N9Y4-2; Sequence=VSP_014549; 


uniprotID: Q52LJ0
geneSymbol: FAM98B
reactome: R-HSA-6784531;
name: Protein FAM98B
length: 330
go: ENSG00000171262;
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; tRNA-splicing ligase complex [GO:0072669]; identical protein binding [GO:0042802]; protein methyltransferase activity [GO:0008276]; RNA binding [GO:0003723]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; protein methylation [GO:0006479]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q52LJ0-1; Sequence=Displayed; Name=2; IsoId=Q52LJ0-2; Sequence=VSP_045170; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24608264}. Cytoplasm {ECO:0000269|PubMed:24608264}.


uniprotID: Q9ULE4
geneSymbol: FAM184B
name: Protein FAM184B
length: 1060
go: ENSG00000047662;
snps: rs16895365 rs6825562
sequence:


uniprotID: P34910
geneSymbol: EVI2B
name: Protein EVI2B (Ecotropic viral integration site 2B protein homolog) (EVI-2B) (CD antigen CD361)
length: 448
go: ENSG00000185862;
snps: rs9903564
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; myeloid cell development [GO:0061515]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell cycle arrest [GO:0071157]; positive regulation of granulocyte differentiation [GO:0030854]; positive regulation of neutrophil differentiation [GO:0045660]; regulation of stem cell division [GO:2000035]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P34910-1; Sequence=Displayed; Name=2; IsoId=P34910-2; Sequence=VSP_056461; Note=No experimental confirmation available.; 


uniprotID: Q16875
geneSymbol: PFKFB3
reactome: R-HSA-70171;
pdb: 2AXN;2DWO;2DWP;2I1V;3QPU;3QPV;3QPW;4D4J;4D4K;4D4L;4D4M;4MA4;5AJV;5AJW;5AJX;5AJY;5AJZ;5AK0;
length: 520
go: ENSG00000170525;
name:
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 (6PF-2-K/Fru-2,6-P2ase 3) (PFK/FBPase 3) (6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme) (Renal carcinoma antigen NY-REN-56) (iPFK-2) [Includes: 6-phosphofructo-2-kinase (EC 2.7.1.105); Fructose-2,6-bisphosphatase (EC 3.1.3.46)]

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; 6-phosphofructo-2-kinase activity [GO:0003873]; ATP binding [GO:0005524]; fructose-2,6-bisphosphate 2-phosphatase activity [GO:0004331]; brain development [GO:0007420]; fructose 2,6-bisphosphate metabolic process [GO:0006003]; fructose metabolic process [GO:0006000]; positive regulation of glycolytic process [GO:0045821]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q16875-1; Sequence=Displayed; Name=2; IsoId=Q16875-2; Sequence=VSP_004680; Name=3; IsoId=Q16875-3; Sequence=VSP_047165; Note=Gene prediction based on EST data.; Name=4; IsoId=Q16875-4; Sequence=VSP_054549; Note=No experimental confirmation available.; 


uniprotID: Q86X60
geneSymbol: FAM72B
name: Protein FAM72B
length: 149
go: ENSG00000188610;
opentargets: cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]
snps: rs17838150 rs1572701
sequence:
MSTNICSFKDRCVSILCCKFCKQVLSSRGMKAVLLADTEIDLFSTDIPPTNAVDFTGRCYFTKICKCKLKDIACLKCGNIVGYHVIVPCSSCLPSCNNGHFWMFHSQAVYDINRLDSTGVNILLWGNLPEIEESTDEDVLNISAEECIR

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86X60-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q86X60-2; Sequence=VSP_034206; 


uniprotID: H0Y354
geneSymbol: FAM72C
name: Protein FAM72C
length: 149
go: ENSG00000263513;
opentargets: cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]
sequence:
MSTNICSFKDRCVSILCCKFCKQVLSSRGMKAVLLADTEIDLFSTDIPPTNAVDFTGRCYFTKICKCKLKDIACLKCGNIVVYHVIVPCSSCLLSCNNRHFWMFHSQAVYDINRLDSTGVNVLLRGNLPEIEESTDEDVLNISAEECIR


uniprotID: Q96KN4
geneSymbol: FAM84A
name: Protein FAM84A (Neurologic sensory protein 1) (NSE1)
length: 292
go: ENSG00000162981;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96KN4-1; Sequence=Displayed; Name=2; IsoId=Q96KN4-2; Sequence=VSP_018314; 


uniprotID: Q96PS1
geneSymbol: FANCD2OS
name: FANCD2 opposite strand protein (Fanconi anemia group D2 protein opposite strand transcript protein)
length: 177
go: ENSG00000163705;
sequence:
MAGYQLWSPWTPLDESFQWLRHTTPTPSSKHPFKASPCFPHTPSDLEVQLCFQEVTLVLDSPFLESGVSPKLPCHTSELRTMNNKGLVRKPQPIRLSGVDSVFGRVITAQPPKWTGTFRVSDKSAFCKIISREHQWPIGLKEPQIQMTVTMCKQMLRSILLLYATYKKCTFALQHSK


uniprotID: A8MXZ1
geneSymbol: FAM90A23P
name: Putative protein FAM90A23P
length: 464
sequence:


uniprotID: Q17RN3
geneSymbol: FAM98C
name: Protein FAM98C
length: 349
go: ENSG00000130244;
opentargets: tRNA-splicing ligase complex [GO:0072669]
snps: rs3745962
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q17RN3-1; Sequence=Displayed; Name=2; IsoId=Q17RN3-2; Sequence=VSP_024142, VSP_024143; Note=No experimental confirmation available.; 


uniprotID: Q6UXB0
geneSymbol: FAM131A
name: Protein FAM131A
length: 335
go: ENSG00000175182;
opentargets: extracellular region [GO:0005576]
snps: rs13434353
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UXB0-1; Sequence=Displayed; Name=2; IsoId=Q6UXB0-2; Sequence=VSP_019501; Name=3; IsoId=Q6UXB0-3; Sequence=VSP_046653; Note=No experimental confirmation available.; 


uniprotID: Q8TAY7
geneSymbol: FAM110D
name: Protein FAM110D
length: 271
go: ENSG00000197245;
snps: rs3748856
sequence:


uniprotID: Q0P6D2
geneSymbol: FAM69C
name: Protein FAM69C
length: 419
go: ENSG00000187773;
opentargets: endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q0P6D2-1; Sequence=Displayed; Name=2; IsoId=Q0P6D2-2; Sequence=VSP_025146; 


uniprotID: Q8NEG4
geneSymbol: FAM83F
name: Protein FAM83F
length: 500
go: ENSG00000133477;
snps: rs12330063 rs35823589 rs5995794
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NEG4-1; Sequence=Displayed; Name=2; IsoId=Q8NEG4-2; Sequence=VSP_030448; Note=No experimental confirmation available.; 


uniprotID: Q8NA70
geneSymbol: FAM47B
name: Protein FAM47B
length: 645
go: ENSG00000189132;
sequence:


uniprotID: Q96KN1
geneSymbol: FAM84B
name: Protein FAM84B (Breast cancer membrane protein 101) (Protein NSE2)
length: 310
go: ENSG00000168672;
opentargets: cytoplasm [GO:0005737]; plasma membrane [GO:0005886]
sequence:


uniprotID: P16930
geneSymbol: FAH
reactome: R-HSA-71182;
name: Fumarylacetoacetase (FAA) (EC 3.7.1.2) (Beta-diketonase) (Fumarylacetoacetate hydrolase)
length: 419
go: ENSG00000103876;
drug: DB01832;DB01762;DB01677;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; fumarylacetoacetase activity [GO:0004334]; metal ion binding [GO:0046872]; arginine catabolic process [GO:0006527]; homogentisate catabolic process [GO:1902000]; L-phenylalanine catabolic process [GO:0006559]; tyrosine catabolic process [GO:0006572]

snps:
rs121965073 rs80338894 rs121965074 rs778387055 rs754196530 rs80338897 rs80338898 rs121965078 rs370634385 rs80338900 rs11555096 rs779040832 rs121965077 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P16930-1; Sequence=Displayed; Name=2; IsoId=P16930-2; Sequence=VSP_055491; Note=No experimental confirmation available.; 


uniprotID: Q6ZU69
geneSymbol: FAM205A
name: Protein FAM205A
length: 1335
go: ENSG00000205108;
opentargets: integral component of membrane [GO:0016021]; nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9Y603
geneSymbol: ETV7
length: 341
go: ENSG00000010030;
snps: rs9394345 rs9470262 rs34306145 rs2234079 rs2234080
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcription factor ETV7 (ETS translocation variant 7) (ETS-related protein Tel2) (Tel-related Ets factor) (Transcription factor Tel-2)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; animal organ morphogenesis [GO:0009887]; cell differentiation [GO:0030154]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=B; IsoId=Q9Y603-1; Sequence=Displayed; Name=A; IsoId=Q9Y603-2; Sequence=VSP_001473; Name=C; IsoId=Q9Y603-3; Sequence=VSP_001474; Name=D; IsoId=Q9Y603-4; Sequence=VSP_001475; Name=E; IsoId=Q9Y603-5; Sequence=VSP_001477; Name=F; IsoId=Q9Y603-6; Sequence=VSP_001475, VSP_001477; Name=G; IsoId=Q9Y603-7; Sequence=VSP_001476; Name=H; IsoId=Q9Y603-8; Sequence=VSP_044285; 


uniprotID: Q5T036
geneSymbol: FAM120AOS
name: Uncharacterized protein FAM120AOS (FAM120A opposite strand protein)
length: 256
go: ENSG00000188938;
snps: rs1055710 rs10821128
sequence:


uniprotID: A6NIJ5
geneSymbol: FAM90A20P
name: Putative protein FAM90A20P
length: 464
sequence:


uniprotID: Q6IPT2
geneSymbol: FAM71E1
name: Protein FAM71E1
length: 247
go: ENSG00000142530;
snps: rs736769
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IPT2-1; Sequence=Displayed; Name=2; IsoId=Q6IPT2-2; Sequence=VSP_033760; 


uniprotID: B9A014
geneSymbol: FAM243A
name: Protein FAM243A
length: 251
sequence:


uniprotID: P00742
geneSymbol: F10
reactome: R-HSA-140834;R-HSA-140837;R-HSA-140875;R-HSA-159740;R-HSA-159763;R-HSA-159782;
length: 488
go: ENSG00000126218;
location: SUBCELLULAR LOCATION: Secreted.
pdb:
1C5M;1EZQ;1F0R;1F0S;1FAX;1FJS;1FXY;1G2L;1G2M;1HCG;1IOE;1IQE;1IQF;1IQG;1IQH;1IQI;1IQJ;1IQK;1IQL;1IQM;1IQN;1KSN;1LPG;1LPK;1LPZ;1LQD;1MQ5;1MQ6;1MSX;1NFU;1NFW;1NFX;1NFY;1NL8;1P0S;1V3X;1WU1;1XKA;1XKB;1Z6E;2BMG;2BOH;2BOK;2BQ6;2BQ7;2BQW;2CJI;2D1J;2EI6;2EI7;2EI8;2FZZ;2G00;2GD4;2H9E;2J2U;2J34;2J38;2J4I;2J94;2J95;2JKH;2P16;2P3F;2P3T;2P3U;2P93;2P94;2P95;2PHB;2PR3;2Q1J;2RA0;2UWL;2UWO;2UWP;2VH0;2VH6;2VVC;2VVU;2VVV;2VWL;2VWM;2VWN;2VWO;2W26;2W3I;2W3K;2WYG;2WYJ;2XBV;2XBW;2XBX;2XBY;2XC0;2XC4;2XC5;2Y5F;2Y5G;2Y5H;2Y7X;2Y7Z;2Y80;2Y81;2Y82;3CEN;3CS7;3ENS;3FFG;3HPT;3IIT;3K9X;3KL6;3KQB;3KQC;3KQD;3KQE;3LIW;3M36;3M37;3Q3K;3SW2;3TK5;3TK6;4A7I;4BTI;4BTT;4BTU;4Y6D;4Y71;4Y76;4Y79;4Y7A;4Y7B;4ZH8;4ZHA;5JQY;5JTC;5JZ8;5JZU;5JZZ;5K0H;5VOE;5VOF;

name:
Coagulation factor X (EC 3.4.21.6) (Stuart factor) (Stuart-Prower factor) [Cleaved into: Factor X light chain; Factor X heavy chain; Activated factor Xa heavy chain]

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; intrinsic component of external side of plasma membrane [GO:0031233]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; phospholipid binding [GO:0005543]; serine-type endopeptidase activity [GO:0004252]; blood coagulation [GO:0007596]; blood coagulation, extrinsic pathway [GO:0007598]; ER to Golgi vesicle-mediated transport [GO:0006888]; positive regulation of cell migration [GO:0030335]; positive regulation of protein kinase B signaling [GO:0051897]

drug:
DB07211;DB08746;DB07974;DB07277;DB07278;DB08487;DB08495;DB04673;DB08745;DB08173;DB07872;DB07843;DB07847;DB07844;DB00025;DB06605;DB00100;DB13150;DB00036;DB09075;DB01225;DB00569;DB03847;DB01109;DB05713;DB00170;DB07973;DB07800;DB06228;DB05362;

snps:
rs5963 rs5961 rs121964943 rs751782758 rs121964944 rs121964939 rs121964945 rs61753266 rs3211772 rs3211783 rs1393705267 rs121964946 rs747292771 rs121964942 rs770119164 rs121964947 rs372309538 rs768222784 rs104894392 rs121964941 rs121964940 rs199778916 rs376163818 rs750759634 rs758726161 


uniprotID: Q86XD5
geneSymbol: FAM131B
reactome: R-HSA-6802952;
name: Protein FAM131B
length: 332
go: ENSG00000159784;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]
snps: rs17854363
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86XD5-1; Sequence=Displayed; Name=2; IsoId=Q86XD5-2; Sequence=VSP_041633; Name=3; IsoId=Q86XD5-3; Sequence=VSP_046798; Note=No experimental confirmation available.; 


uniprotID: Q9Y6X4
geneSymbol: FAM169A
name: Soluble lamin-associated protein of 75 kDa (SLAP75) (Protein FAM169A)
length: 670
go: ENSG00000198780;
opentargets: nuclear inner membrane [GO:0005637]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6X4-1; Sequence=Displayed; Name=2; IsoId=Q9Y6X4-2; Sequence=VSP_031670, VSP_031671; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus envelope {ECO:0000269|PubMed:22412018}. Nucleus inner membrane {ECO:0000269|PubMed:22412018}; Peripheral membrane protein {ECO:0000269|PubMed:22412018}; Nucleoplasmic side {ECO:0000269|PubMed:22412018}. Note=Enriched at the nuclear lamina.


uniprotID: A8MXJ8
geneSymbol: FAM90A5P
name: Putative protein FAM90A5P
length: 464
sequence:


uniprotID: A6NKC0
geneSymbol: FAM90A7P
name: Putative protein FAM90A7P
length: 464
sequence:


uniprotID: Q8IVS2
geneSymbol: MCAT
reactome: R-HSA-77289;
pdb: 2C2N;
length: 390
go: ENSG00000100294;
snps: rs13815
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12882974}.
name:
Malonyl-CoA-acyl carrier protein transacylase, mitochondrial (MCT) (EC 2.3.1.39) (Mitochondrial malonyl CoA:ACP acyltransferase) (Mitochondrial malonyltransferase) ([Acyl-carrier-protein] malonyltransferase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; [acyl-carrier-protein] S-malonyltransferase activity [GO:0004314]; fatty acid synthase activity [GO:0004312]; RNA binding [GO:0003723]; fatty acid beta-oxidation [GO:0006635]; fatty acid biosynthetic process [GO:0006633]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IVS2-1; Sequence=Displayed; Name=2; IsoId=Q8IVS2-2; Sequence=VSP_010517, VSP_010518; 


uniprotID: Q5T7N8
geneSymbol: FAM27D1
name: Protein FAM27D1
length: 215
sequence:


uniprotID: Q06787
geneSymbol: FMR1
pdb: 2BKD;2FMR;2LA5;2QND;4OVA;4QVZ;4QW2;5DE5;5DE8;5DEA;5UWJ;5UWO;
name: Synaptic functional regulator FMR1 (Fragile X mental retardation protein 1) (FMRP) (Protein FMR-1)
length: 632
go: ENSG00000102081;
snps: rs200163413 rs29281 rs121434622 rs782651077
sequence:

opentargets:
axon [GO:0030424]; axon cytoplasm [GO:1904115]; axon terminus [GO:0043679]; Cajal body [GO:0015030]; cell junction [GO:0030054]; cell projection [GO:0042995]; chromocenter [GO:0010369]; chromosome [GO:0005694]; chromosome, centromeric region [GO:0000775]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic filopodium [GO:1902737]; dendritic spine [GO:0043197]; dendritic spine neck [GO:0044326]; extrinsic component of plasma membrane [GO:0019897]; filopodium tip [GO:0032433]; glial cell projection [GO:0097386]; growth cone [GO:0030426]; growth cone filopodium [GO:1990812]; membrane [GO:0016020]; messenger ribonucleoprotein complex [GO:1990124]; mRNA cap binding complex [GO:0005845]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; neuronal ribonucleoprotein granule [GO:0071598]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; polysome [GO:0005844]; postsynapse [GO:0098794]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; presynapse [GO:0098793]; presynaptic membrane [GO:0042734]; ribonucleoprotein complex [GO:1990904]; ribonucleoprotein granule [GO:0035770]; synapse [GO:0045202]; viral replication complex [GO:0019034]; chromatin binding [GO:0003682]; dynein complex binding [GO:0070840]; G-quadruplex RNA binding [GO:0002151]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; methylated histone binding [GO:0035064]; microtubule binding [GO:0008017]; miRNA binding [GO:0035198]; mRNA 3'-UTR binding [GO:0003730]; mRNA 5'-UTR binding [GO:0048027]; mRNA binding [GO:0003729]; poly(G) binding [GO:0034046]; poly(U) RNA binding [GO:0008266]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; RNA stem-loop binding [GO:0035613]; RNA strand annealing activity [GO:0033592]; sequence-specific mRNA binding [GO:1990825]; siRNA binding [GO:0035197]; translation initiation factor binding [GO:0031369]; translation regulator activity [GO:0045182]; translation repressor activity [GO:0030371]; anterograde axonal transport [GO:0008089]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to hydroxyurea [GO:0072711]; cellular response to UV [GO:0034644]; cellular response to virus [GO:0098586]; central nervous system development [GO:0007417]; gene silencing by RNA [GO:0031047]; glutamate receptor signaling pathway [GO:0007215]; modulation by host of viral RNA genome replication [GO:0044830]; mRNA processing [GO:0006397]; mRNA transport [GO:0051028]; negative regulation of cytoplasmic translation [GO:2000766]; negative regulation of long-term synaptic depression [GO:1900453]; negative regulation of mRNA catabolic process [GO:1902373]; negative regulation of synaptic vesicle exocytosis [GO:2000301]; negative regulation of translation [GO:0017148]; negative regulation of translational initiation [GO:0045947]; negative regulation of voltage-gated calcium channel activity [GO:1901386]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of gene silencing by miRNA [GO:2000637]; positive regulation of histone phosphorylation [GO:0033129]; positive regulation of intracellular transport of viral material [GO:1901254]; positive regulation of mRNA binding [GO:1902416]; positive regulation of proteasomal protein catabolic process [GO:1901800]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of receptor internalization [GO:0002092]; positive regulation of response to DNA damage stimulus [GO:2001022]; positive regulation of translation [GO:0045727]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of dendrite morphogenesis [GO:0048814]; regulation of dendritic spine development [GO:0060998]; regulation of filopodium assembly [GO:0051489]; regulation of gene silencing by miRNA [GO:0060964]; regulation of modification of synaptic structure [GO:1905244]; regulation of mRNA stability [GO:0043488]; regulation of neuronal action potential [GO:0098908]; regulation of neurotransmitter secretion [GO:0046928]; regulation of translation at postsynapse, modulating synaptic transmission [GO:0099578]; RNA splicing [GO:0008380]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=At least 12 different isoforms are produced.; Name=6; IsoId=Q06787-1; Sequence=Displayed; Name=1; IsoId=Q06787-2; Sequence=VSP_002823, VSP_002826; Name=2; IsoId=Q06787-3; Sequence=VSP_002824; Name=3; IsoId=Q06787-4; Sequence=VSP_002824, VSP_002826; Name=4; IsoId=Q06787-5; Sequence=VSP_002825; Name=5; IsoId=Q06787-6; Sequence=VSP_002825, VSP_002826; Name=7; IsoId=Q06787-7; Sequence=VSP_002826; Name=8; IsoId=Q06787-8; Sequence=VSP_002823, VSP_002825; Name=9; Synonyms=B; IsoId=Q06787-9; Sequence=VSP_002823; Name=10; Synonyms=ISO6 {ECO:0000303|PubMed:8789445}; IsoId=Q06787-10; Sequence=VSP_058423; Name=11; Synonyms=ISO12 {ECO:0000303|PubMed:8789445}; IsoId=Q06787-11; Sequence=VSP_002823, VSP_058423; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10196376, ECO:0000269|PubMed:16571602, ECO:0000269|PubMed:18936162}. Nucleus, nucleolus {ECO:0000269|PubMed:12837692, ECO:0000269|PubMed:16407062, ECO:0000269|PubMed:16571602, ECO:0000269|PubMed:24658146}. Chromosome, centromere {ECO:0000250|UniProtKB:P35922}. Chromosome {ECO:0000250|UniProtKB:P35922}. Cytoplasm {ECO:0000269|PubMed:10196376, ECO:0000269|PubMed:12837692, ECO:0000269|PubMed:18664458, ECO:0000269|PubMed:18936162, ECO:0000269|PubMed:7781595, ECO:0000269|PubMed:8401578, ECO:0000269|PubMed:8515814}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:24658146}. Cytoplasm, Cytoplasmic ribonucleoprotein granule {ECO:0000269|PubMed:12417734, ECO:0000269|PubMed:14532325, ECO:0000269|PubMed:15380484, ECO:0000269|PubMed:16636078, ECO:0000269|PubMed:18093976, ECO:0000269|PubMed:9659908}. Perikaryon {ECO:0000269|PubMed:12417734, ECO:0000269|PubMed:15380484, ECO:0000269|PubMed:18093976}. Cell projection {ECO:0000269|PubMed:12417734, ECO:0000269|PubMed:15380484, ECO:0000269|PubMed:18093976}. Cell projection, axon {ECO:0000250|UniProtKB:P35922}. Cell projection, dendrite {ECO:0000250|UniProtKB:P35922}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:P35922}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:P35922}. Cell projection, growth cone {ECO:0000269|PubMed:15380484}. Cell projection, filopodium tip {ECO:0000250|UniProtKB:P35922}. Cell junction, synapse {ECO:0000250|UniProtKB:P35922}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:P35922}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:P35922}. Cell membrane {ECO:0000250|UniProtKB:P35922}. Cytoplasm, Stress granule {ECO:0000269|PubMed:16636078, ECO:0000269|PubMed:18632687, ECO:0000269|PubMed:18664458}. Note=Colocalizes with H2AFX/H2A.x in pericentromeric heterochromatin in response to DNA damaging agents (By similarity). Localizes on meiotic pachytene-stage chromosomes (By similarity). Forms nuclear foci representing sites of ongoing DNA replication in response to DNA damaging agents (By similarity). Shuttles between nucleus and cytoplasm in a XPO1/CRM1-dependent manner (PubMed:10196376). Localizes to cytoplasmic ribonucleoprotein granules, also referred to as messenger ribonucleoprotein particles or mRNPs, along dendrites and dendritic spines (PubMed:9659908, PubMed:14532325). FMR1-containing cytoplasmic granules colocalize to F-actin-rich structures, including filopodium, spines and growth cone during the development of hippocampal neurons (By similarity). FMR1-containing cytoplasmic granules are transported out of the soma along axon and dendrite to synaptic contacts in a microtubule- and kinesin-dependent manner (PubMed:12417734, PubMed:15380484). Colocalizes with CACNA1B in the cytoplasm and at the cell membrane of neurons (By similarity). Colocalizes with CYFIP1, CYFIP2, NXF2 and ribosomes in the perinuclear region (By similarity). Colocalizes with CYFIP1 and EIF4E in dendrites and probably at synapses (By similarity). Colocalizes with FXR1, kinesin, 60S acidic ribosomal protein RPLP0 and SMN in cytoplasmic granules in the soma and neurite cell processes (PubMed:12417734, PubMed:18093976, PubMed:16636078). Colocalizes with FXR1 and FXR2 in discrete granules, called fragile X granules (FXGs), along axon and presynaptic compartments (By similarity). Colocalizes with TDRD3 in cytoplasmic stress granules (SGs) in response to various cellular stress (PubMed:18632687, PubMed:18664458, PubMed:16636078). {ECO:0000250|UniProtKB:P35922, ECO:0000250|UniProtKB:Q80WE1, ECO:0000269|PubMed:10196376, ECO:0000269|PubMed:12417734, ECO:0000269|PubMed:14532325, ECO:0000269|PubMed:15380484, ECO:0000269|PubMed:16636078, ECO:0000269|PubMed:18093976, ECO:0000269|PubMed:18632687, ECO:0000269|PubMed:18664458, ECO:0000269|PubMed:9659908}.; SUBCELLULAR LOCATION: Isoform 6: Cytoplasm {ECO:0000269|PubMed:24204304, ECO:0000269|PubMed:8789445}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:24204304}.; SUBCELLULAR LOCATION: Isoform 9: Cytoplasm {ECO:0000269|PubMed:24204304, ECO:0000269|PubMed:8789445}.; SUBCELLULAR LOCATION: Isoform 10: Nucleus {ECO:0000269|PubMed:8789445}. Nucleus, Cajal body {ECO:0000269|PubMed:24204304}. Note=Colocalizes with Colin and SMN in Cajal bodies (PubMed:24204304).; SUBCELLULAR LOCATION: Isoform 11: Nucleus {ECO:0000269|PubMed:8789445}. Nucleus, Cajal body {ECO:0000269|PubMed:24204304}.


uniprotID: O75844
geneSymbol: ZMPSTE24
pdb: 2YPT;4AW6;5SYT;6BH8;
length: 475
go: ENSG00000084073;
snps: rs17853725 rs121908095 rs281875371 rs121908093
name:
CAAX prenyl protease 1 homolog (EC 3.4.24.84) (Farnesylated proteins-converting enzyme 1) (FACE-1) (Prenyl protein-specific endoprotease 1) (Zinc metalloproteinase Ste24 homolog)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; nuclear inner membrane [GO:0005637]; protein-containing complex [GO:0032991]; double-stranded DNA binding [GO:0003690]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metalloexopeptidase activity [GO:0008235]; adult walking behavior [GO:0007628]; bone mineralization [GO:0030282]; CAAX-box protein processing [GO:0071586]; calcium ion import into sarcoplasmic reticulum [GO:1990036]; CAMKK-AMPK signaling cascade [GO:0061762]; cardiac conduction [GO:0061337]; cardiac muscle fiber development [GO:0048739]; cardiac ventricle development [GO:0003231]; cellular lipid metabolic process [GO:0044255]; cellular response to gamma radiation [GO:0071480]; determination of adult lifespan [GO:0008340]; DNA repair [GO:0006281]; growth plate cartilage development [GO:0003417]; hair follicle development [GO:0001942]; heart morphogenesis [GO:0003007]; histone H2A phosphorylation [GO:1990164]; histone H2B-K5 acetylation [GO:0043979]; hypomethylation of CpG island [GO:0044029]; inflammatory cell apoptotic process [GO:0006925]; kidney morphogenesis [GO:0060993]; liver development [GO:0001889]; maintenance of rDNA [GO:0043007]; multicellular organism growth [GO:0035264]; negative regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903799]; neuromuscular process [GO:0050905]; nuclear envelope organization [GO:0006998]; prenylated protein catabolic process [GO:0030327]; proteolysis [GO:0006508]; regulation of autophagy [GO:0010506]; regulation of bone mineralization [GO:0030500]; regulation of cell shape [GO:0008360]; regulation of cellular senescence [GO:2000772]; regulation of defense response to virus [GO:0050688]; regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043516]; regulation of fibroblast proliferation [GO:0048145]; regulation of glucose metabolic process [GO:0010906]; regulation of histone H4-K16 acetylation [GO:2000618]; regulation of hormone metabolic process [GO:0032350]; regulation of lipid metabolic process [GO:0019216]; regulation of mitotic cell cycle DNA replication [GO:1903463]; regulation of multicellular organism growth [GO:0040014]; regulation of RNA polymerase II regulatory region sequence-specific DNA binding [GO:1903025]; regulation of stress-activated protein kinase signaling cascade [GO:0070302]; regulation of termination of RNA polymerase I transcription [GO:2000730]; regulation of TOR signaling [GO:0032006]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; response to DNA damage checkpoint signaling [GO:0072423]; thymus development [GO:0048538]; ventricular cardiac muscle tissue development [GO:0003229]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23539603}; Multi-pass membrane protein {ECO:0000269|PubMed:23539603}. Nucleus inner membrane {ECO:0000269|PubMed:23539603}; Multi-pass membrane protein {ECO:0000269|PubMed:23539603}.


uniprotID: Q86W67
geneSymbol: FAM228A
name: Protein FAM228A
length: 206
go: ENSG00000186453;
snps: rs2288073
sequence:


uniprotID: Q9UHL3
geneSymbol: FAM153A
name: Protein FAM153A (Renal carcinoma antigen NY-REN-7)
length: 310
go: ENSG00000170074;
sequence:


uniprotID: A6NCW3
geneSymbol: FAM231BP
name: Putative protein FAM231BP
length: 169
sequence:
MGCSKGLWKERPSAHTSECFSTTACPVAFILLVWNSQSPAGLQSFCTGRHPSLSVRAQRAGTGASREEGTFWTECVGQERRLIHSGSSENESQEDEGADLIPYTGLKADNRRKSSTWANEVEDRRPQSTPALNLTPSHPHPPRPLITFLRSVIGIQIPPGLVAAGGTVA


uniprotID: Q96KP1
geneSymbol: EXOC2
reactome: R-HSA-1445148;R-HSA-264876;R-HSA-5620916;
name: Exocyst complex component 2 (Exocyst complex component Sec5)
length: 924
go: ENSG00000112685;
snps: rs35600069
sequence:

opentargets:
cytosol [GO:0005829]; exocyst [GO:0000145]; Flemming body [GO:0090543]; membrane [GO:0016020]; plasma membrane [GO:0005886]; protein kinase binding [GO:0019901]; protein N-terminus binding [GO:0047485]; Ral GTPase binding [GO:0017160]; exocyst assembly [GO:0001927]; Golgi to plasma membrane transport [GO:0006893]; protein transport [GO:0015031]; regulation of entry of bacterium into host cell [GO:2000535]

location:
SUBCELLULAR LOCATION: Midbody, Midbody ring {ECO:0000269|PubMed:16213214, ECO:0000269|PubMed:18756269}. Note=Recruitment to the midbody does not require RALA, nor RALB (PubMed:18756269). Colocalizes with CNTRL/centriolin at the midbody ring (PubMed:16213214). {ECO:0000269|PubMed:16213214, ECO:0000269|PubMed:18756269}.


uniprotID: Q8NE31
geneSymbol: FAM13C
name: Protein FAM13C
length: 585
go: ENSG00000148541;
snps: rs17853626
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8NE31-1; Sequence=Displayed; Name=2; IsoId=Q8NE31-2; Sequence=VSP_035841, VSP_035842; Name=3; IsoId=Q8NE31-3; Sequence=VSP_035840; Name=4; IsoId=Q8NE31-4; Sequence=VSP_044286; Name=5; IsoId=Q8NE31-5; Sequence=VSP_044286, VSP_045812; Note=No experimental confirmation available.; 


uniprotID: P15090
geneSymbol: FABP4
reactome: R-HSA-163560;R-HSA-381340;
length: 132
go: ENSG00000170323;
drug: DB04474;DB02776;DB03009;DB02153;DB04557;DB03851;DB04224;DB03796;DB03766;
pdb:
1TOU;1TOW;2HNX;2NNQ;3FR2;3FR4;3FR5;3P6C;3P6D;3P6E;3P6F;3P6G;3P6H;3Q6L;3RZY;4NNS;4NNT;5D45;5D47;5D48;5D4A;5EDB;5EDC;5HZ6;5HZ8;5Y0F;5Y0G;5Y0X;5Y12;5Y13;6AYL;

name:
Fatty acid-binding protein, adipocyte (Adipocyte lipid-binding protein) (ALBP) (Adipocyte-type fatty acid-binding protein) (A-FABP) (AFABP) (Fatty acid-binding protein 4)

sequence:
MCDAFVGTWKLVSSENFDDYMKEVGVGFATRKVAGMAKPNMIISVNGDVITIKSESTFKNTEISFILGQEFDEVTADDRKVKSTITLDGGVLVHVQKWDGKSTTIKRKREDDKLVVECVMKGVTSTRVYERA

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; lipid droplet [GO:0005811]; nucleus [GO:0005634]; fatty acid binding [GO:0005504]; hormone receptor binding [GO:0051427]; long-chain fatty acid binding [GO:0036041]; long-chain fatty acid transporter activity [GO:0005324]; brown fat cell differentiation [GO:0050873]; cellular response to lithium ion [GO:0071285]; cellular response to tumor necrosis factor [GO:0071356]; cholesterol homeostasis [GO:0042632]; cytokine production [GO:0001816]; long-chain fatty acid transport [GO:0015909]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of inflammatory response [GO:0050729]; response to bacterium [GO:0009617]; triglyceride catabolic process [GO:0019433]; white fat cell differentiation [GO:0050872]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P04117}. Nucleus {ECO:0000250|UniProtKB:P04117}. Note=Depending on the nature of the ligand, a conformation change exposes a nuclear localization motif and the protein is transported into the nucleus. Subject to constitutive nuclear export. {ECO:0000250|UniProtKB:P04117}.


uniprotID: Q6GMR7
geneSymbol: FAAH2
reactome: R-HSA-2142753;
length: 532
go: ENSG00000165591;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Fatty-acid amide hydrolase 2 (EC 3.5.1.99) (Amidase domain-containing protein) (Anandamide amidohydrolase 2) (Oleamide hydrolase 2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; anandamide amidohydrolase activity [GO:0103073]; fatty acid amide hydrolase activity [GO:0017064]; oleamide hydrolase activity [GO:0102077]; arachidonic acid metabolic process [GO:0019369]


uniprotID: Q96K12
geneSymbol: FAR2
reactome: R-HSA-8848584;
name: Fatty acyl-CoA reductase 2 (EC 1.2.1.84) (Male sterility domain-containing protein 1)
length: 515
go: ENSG00000064763;
sequence:

opentargets:
integral component of peroxisomal membrane [GO:0005779]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; alcohol-forming fatty acyl-CoA reductase activity [GO:0102965]; fatty-acyl-CoA reductase (alcohol-forming) activity [GO:0080019]; oxidoreductase activity [GO:0016491]; lipid metabolic process [GO:0006629]; long-chain fatty-acyl-CoA metabolic process [GO:0035336]; wax biosynthetic process [GO:0010025]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96K12-1; Sequence=Displayed; Name=2; IsoId=Q96K12-2; Sequence=VSP_055648; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:15220348, ECO:0000269|PubMed:24108123}; Single-pass membrane protein {ECO:0000305|PubMed:24108123}.


uniprotID: P0DPD6
geneSymbol: ECE2
reactome: R-HSA-375276;
name: Endothelin-converting enzyme 2 (ECE-2) (EC 3.4.24.71)
length: 811
go: ENSG00000145194;
snps: rs35875049
sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; transport vesicle membrane [GO:0030658]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; methyltransferase activity [GO:0008168]; peptide hormone processing [GO:0016486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=ECE2-1; Synonyms=ECE2-2C {ECO:0000303|Ref.2}; IsoId=P0DPD6-4, O60344-5; Sequence=Displayed; Name=ECE2-2; Synonyms=ECE-2B {ECO:0000303|PubMed:11718899}; IsoId=P0DPD6-2, O60344-2; Sequence=VSP_059325; Name=ECE2-3; IsoId=P0DPD6-3, O60344-3; Sequence=VSP_059324; Name=EEF1AKMT4-ECE2-1; Synonyms=ECE-2A {ECO:0000303|PubMed:11718899}; IsoId=P0DPD8-1, O60344-1; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an EEF1AKMT4-ECE2 fusion protein. {ECO:0000269|PubMed:11718899}; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:F1N476}; Single-pass type II membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:F1N476}.


uniprotID: Q13011
geneSymbol: ECH1
reactome: R-HSA-9033241;
pdb: 2VRE;
name: Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial (EC 5.3.3.-)
length: 328
go: ENSG00000104823;
snps: rs9419 rs2229259
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Peroxisome {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; mitochondrion [GO:0005739]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; delta3,5-delta2,4-dienoyl-CoA isomerase activity [GO:0051750]; signaling receptor binding [GO:0005102]; fatty acid beta-oxidation [GO:0006635]; protein targeting to peroxisome [GO:0006625]


uniprotID: Q14209
geneSymbol: E2F2
reactome: R-HSA-2559580;R-HSA-2559585;R-HSA-68689;R-HSA-69231;
pdb: 1N4M;
name: Transcription factor E2F2 (E2F-2)
length: 437
go: ENSG00000007968;
snps: rs2229297 rs2075995
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; proximal promoter sequence-specific DNA binding [GO:0000987]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; cell cycle [GO:0007049]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; lens fiber cell apoptotic process [GO:1990086]; negative regulation of sprouting angiogenesis [GO:1903671]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell cycle [GO:0051726]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: A8MWE9
geneSymbol: EFCAB8
name: EF-hand calcium-binding domain-containing protein 8
length: 144
go: ENSG00000215529;
opentargets: calcium ion binding [GO:0005509]
sequence:
MSSEDLAEIPQLQKLSIPHGFQNKEAASSPTPSITLSQVPDLQPGSQLFTEIHLAKIEKMFEEDINSTGALGMDAFIKAMKKVLSSVSDEMLKELFLKVDSDCEGFVTWQKYVDYMMREFQGKEDMRKSQYRLHFYLPMTVVPL


uniprotID: P24534
geneSymbol: EEF1B2
reactome: R-HSA-156842;
pdb: 1B64;5DQS;
name: Elongation factor 1-beta (EF-1-beta)
length: 225
go: ENSG00000114942;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation elongation factor 1 complex [GO:0005853]; translation elongation factor activity [GO:0003746]; response to ethanol [GO:0045471]; translational elongation [GO:0006414]


uniprotID: Q8N3D4
geneSymbol: EHBP1L1
name: EH domain-binding protein 1-like protein 1
length: 1523
go: ENSG00000173442;
opentargets: endosome [GO:0005768]; membrane [GO:0016020]
snps: rs1194100 rs3741380 rs6591182 rs1194099 rs7931052 rs7931269
location: SUBCELLULAR LOCATION: Endosome {ECO:0000305|PubMed:27552051}.
sequence:


uniprotID: P21802
geneSymbol: FGFR2
length: 821
go: ENSG00000066468;
drug: DB02491;DB09078;DB09079;DB00039;DB08901;DB08896;DB02058;DB01041;
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-190375;R-HSA-190377;R-HSA-2023837;R-HSA-2033519;R-HSA-2219530;R-HSA-5654221;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654727;R-HSA-5655253;R-HSA-5673001;R-HSA-6811558;R-HSA-8851708;R-HSA-8853333;

pdb:
1DJS;1E0O;1EV2;1GJO;1II4;1IIL;1NUN;1OEC;1WVZ;2FDB;2PSQ;2PVF;2PVY;2PWL;2PY3;2PZ5;2PZP;2PZR;2Q0B;3B2T;3CAF;3CLY;3CU1;3DAR;3EUU;3OJ2;3OJM;3RI1;4J23;4J95;4J96;4J97;4J98;4J99;4WV1;5EG3;5UGL;5UGX;5UHN;5UI0;

name:
Fibroblast growth factor receptor 2 (FGFR-2) (EC 2.7.10.1) (K-sam) (KGFR) (Keratinocyte growth factor receptor) (CD antigen CD332)

sequence:

opentargets:
cell cortex [GO:0005938]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; excitatory synapse [GO:0060076]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; ATP binding [GO:0005524]; fibroblast growth factor binding [GO:0017134]; fibroblast growth factor-activated receptor activity [GO:0005007]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein homodimerization activity [GO:0042803]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; angiogenesis [GO:0001525]; animal organ morphogenesis [GO:0009887]; apoptotic process [GO:0006915]; axonogenesis [GO:0007409]; bone development [GO:0060348]; bone mineralization [GO:0030282]; bone morphogenesis [GO:0060349]; branch elongation involved in salivary gland morphogenesis [GO:0060667]; branching involved in labyrinthine layer morphogenesis [GO:0060670]; branching involved in prostate gland morphogenesis [GO:0060442]; branching involved in salivary gland morphogenesis [GO:0060445]; branching morphogenesis of a nerve [GO:0048755]; bud elongation involved in lung branching [GO:0060449]; cell differentiation [GO:0030154]; cell fate commitment [GO:0045165]; cell-cell signaling [GO:0007267]; cellular response to retinoic acid [GO:0071300]; cellular response to transforming growth factor beta stimulus [GO:0071560]; digestive tract development [GO:0048565]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic digestive tract morphogenesis [GO:0048557]; embryonic organ development [GO:0048568]; embryonic organ morphogenesis [GO:0048562]; embryonic pattern specification [GO:0009880]; endochondral bone growth [GO:0003416]; epidermis morphogenesis [GO:0048730]; epithelial cell differentiation [GO:0030855]; epithelial cell proliferation involved in salivary gland morphogenesis [GO:0060664]; epithelial to mesenchymal transition [GO:0001837]; fibroblast growth factor receptor signaling pathway [GO:0008543]; fibroblast growth factor receptor signaling pathway involved in hemopoiesis [GO:0035603]; fibroblast growth factor receptor signaling pathway involved in mammary gland specification [GO:0060595]; fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow [GO:0035602]; fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development [GO:0035607]; fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow [GO:0035604]; gland morphogenesis [GO:0022612]; hair follicle morphogenesis [GO:0031069]; in utero embryonic development [GO:0001701]; inner ear morphogenesis [GO:0042472]; lacrimal gland development [GO:0032808]; lateral sprouting from an epithelium [GO:0060601]; limb bud formation [GO:0060174]; lung alveolus development [GO:0048286]; lung development [GO:0030324]; lung lobe morphogenesis [GO:0060463]; lung-associated mesenchyme development [GO:0060484]; mammary gland bud formation [GO:0060615]; MAPK cascade [GO:0000165]; membranous septum morphogenesis [GO:0003149]; mesenchymal cell differentiation [GO:0048762]; mesenchymal cell differentiation involved in lung development [GO:0060915]; mesenchymal cell proliferation involved in lung development [GO:0060916]; mesodermal cell differentiation [GO:0048333]; midbrain development [GO:0030901]; morphogenesis of embryonic epithelium [GO:0016331]; multicellular organism growth [GO:0035264]; negative regulation of apoptotic process [GO:0043066]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of signal transduction [GO:0009968]; negative regulation of transcription by RNA polymerase II [GO:0000122]; odontogenesis [GO:0042476]; orbitofrontal cortex development [GO:0021769]; organ growth [GO:0035265]; otic vesicle formation [GO:0030916]; outflow tract septum morphogenesis [GO:0003148]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of epithelial cell proliferation involved in lung morphogenesis [GO:0060501]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of phospholipase activity [GO:0010518]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of Wnt signaling pathway [GO:0030177]; post-embryonic development [GO:0009791]; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis [GO:0060527]; prostate epithelial cord elongation [GO:0060523]; prostate gland morphogenesis [GO:0060512]; protein autophosphorylation [GO:0046777]; pyramidal neuron development [GO:0021860]; regulation of branching involved in prostate gland morphogenesis [GO:0060687]; regulation of cell fate commitment [GO:0010453]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of fibroblast growth factor receptor signaling pathway [GO:0040036]; regulation of morphogenesis of a branching structure [GO:0060688]; regulation of multicellular organism growth [GO:0040014]; regulation of osteoblast differentiation [GO:0045667]; regulation of osteoblast proliferation [GO:0033688]; regulation of smooth muscle cell differentiation [GO:0051150]; regulation of smoothened signaling pathway [GO:0008589]; reproductive structure development [GO:0048608]; response to ethanol [GO:0045471]; response to lipopolysaccharide [GO:0032496]; skeletal system morphogenesis [GO:0048705]; squamous basal epithelial stem cell differentiation involved in prostate gland acinus development [GO:0060529]; ureteric bud development [GO:0001657]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]; ventricular zone neuroblast division [GO:0021847]; wound healing [GO:0042060]

snps:
rs3750819 rs56226109 rs1434545235 rs755793 rs281865420 rs121918498 rs79184941 rs79184941 rs77543610 rs779326224 rs121918505 rs1057519036 rs776587763 rs1057519038 rs121918497 rs121918499 rs121918501 rs121918501 rs121918500 rs121918504 rs121918510 rs121918493 rs387906676 rs1057519044 rs1057519043 rs121918489 rs121918495 rs121918487 rs121918488 rs121918488 rs121918488 rs121918496 rs121918487 rs121918492 rs121918494 rs121918502 rs121918490 rs121913477 rs121913478 rs387906678 rs387906677 rs121918507 rs1057519045 rs121918506 rs121918509 rs1057519047 rs121918508 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=23;  Name=1; Synonyms=BEK, FGFR2IIIc; IsoId=P21802-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P21802-2; Sequence=VSP_002978; Name=3; Synonyms=BFR-1, FGFR2IIIb, KGFR; IsoId=P21802-3; Sequence=VSP_002969, VSP_002970, VSP_002971, VSP_002972; Name=4; Synonyms=K-sam; IsoId=P21802-4; Sequence=VSP_002964, VSP_002969, VSP_002970, VSP_002971, VSP_002972, VSP_002975, VSP_002976; Name=5; Synonyms=K-sam-I, BEK, IgIIIc; IsoId=P21802-5; Sequence=VSP_002975; Name=6; Synonyms=K-sam-IIC2; IsoId=P21802-6; Sequence=VSP_002975, VSP_002984; Name=7; Synonyms=K-sam-IIO2; IsoId=P21802-7; Sequence=VSP_002969, VSP_002970, VSP_002971, VSP_002972, VSP_002979; Name=8; Synonyms=K-sam-IIC3; IsoId=P21802-8; Sequence=VSP_002975, VSP_002978; Name=9; Synonyms=K-sam-IIH1; IsoId=P21802-9; Sequence=VSP_002969, VSP_002970, VSP_002971, VSP_002972, VSP_002980; Name=10; Synonyms=K-sam-IIH2; IsoId=P21802-10; Sequence=VSP_002969, VSP_002970, VSP_002971, VSP_002972, VSP_002981; Name=11; Synonyms=K-sam-IIH3, K-sam-IIO4; IsoId=P21802-11; Sequence=VSP_002969, VSP_002970, VSP_002971, VSP_002972, VSP_002982; Name=12; Synonyms=K-sam-IIO1; IsoId=P21802-12; Sequence=VSP_002969, VSP_002970, VSP_002971, VSP_002972, VSP_002983; Name=13; Synonyms=K-sam-IIO3; IsoId=P21802-13; Sequence=VSP_002969, VSP_002970, VSP_002971, VSP_002972, VSP_002977; Name=14; Synonyms=K-sam-IV, Soluble KGFR; IsoId=P21802-14; Sequence=VSP_002965, VSP_002966; Name=15; Synonyms=K-sam-III; IsoId=P21802-15; Sequence=VSP_002968; Name=16; Synonyms=TK14; IsoId=P21802-16; Sequence=VSP_002967, VSP_002975; Name=17; IsoId=P21802-17; Sequence=VSP_002969, VSP_002970, VSP_002971, VSP_002972, VSP_002978; Name=18; Synonyms=K-sam-IIC1, KGFR, IgIIIb; IsoId=P21802-18; Sequence=VSP_002969, VSP_002970, VSP_002971, VSP_002972, VSP_002975; Name=19; Synonyms=Soluble KGFR; IsoId=P21802-19; Sequence=VSP_002969, VSP_002970, VSP_002971, VSP_002972, VSP_002973, VSP_002974; Name=20; IsoId=P21802-20; Sequence=VSP_019608, VSP_019609; Name=21; IsoId=P21802-21; Sequence=VSP_002964, VSP_041915; Name=22; IsoId=P21802-22; Sequence=VSP_002964, VSP_002969, VSP_002970, VSP_002971, VSP_002972, VSP_002978; Name=23; IsoId=P21802-23; Sequence=VSP_041914; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Golgi apparatus. Cytoplasmic vesicle. Note=Detected on osteoblast plasma membrane lipid rafts. After ligand binding, the activated receptor is rapidly internalized and degraded.; SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein. Note=After ligand binding, the activated receptor is rapidly internalized and degraded.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Single-pass type I membrane protein. Note=After ligand binding, the activated receptor is rapidly internalized and degraded.; SUBCELLULAR LOCATION: Isoform 14: Secreted.; SUBCELLULAR LOCATION: Isoform 19: Secreted.


uniprotID: P49770
geneSymbol: EIF2B2
reactome: R-HSA-72731;
pdb: 6CAJ;6EZO;
length: 351
go: ENSG00000119718;
name:
Translation initiation factor eIF-2B subunit beta (S20I15) (S20III15) (eIF-2B GDP-GTP exchange factor subunit beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation initiation factor 2B complex [GO:0005851]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; translation initiation factor activity [GO:0003743]; central nervous system development [GO:0007417]; myelination [GO:0042552]; oligodendrocyte development [GO:0014003]; ovarian follicle development [GO:0001541]; regulation of translational initiation [GO:0006446]; response to glucose [GO:0009749]; response to heat [GO:0009408]; response to peptide hormone [GO:0043434]; T cell receptor signaling pathway [GO:0050852]; translational initiation [GO:0006413]

snps:
rs397514648 rs150617429 rs104894428 rs113994011 rs113994012 rs104894425 rs113994016 rs104894426 rs113994020 


uniprotID: O60739
geneSymbol: EIF1B
name: Eukaryotic translation initiation factor 1b (eIF1b) (Protein translation factor SUI1 homolog GC20)
length: 113
go: ENSG00000114784;
sequence:
MSTIQNLQSFDPFADATKGDDLLPAGTEDYIHIRIQQRNGRKTLTTVQGIADDYDKKKLVKAFKKKFACNGTVIEHPEYGEVIQLQGDQRKNICQFLLEVGIVKEEQLKVHGF

opentargets:
eukaryotic 43S preinitiation complex [GO:0016282]; ribosomal small subunit binding [GO:0043024]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; regulation of translational initiation [GO:0006446]


uniprotID: Q14314
geneSymbol: FGL2
reactome: R-HSA-6798695;
name: Fibroleukin (Fibrinogen-like protein 2) (pT49)
length: 439
go: ENSG00000127951;
snps: rs2075761
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; fibrinogen complex [GO:0005577]; ficolin-1-rich granule lumen [GO:1904813]; peptidase activity [GO:0008233]; neutrophil degranulation [GO:0043312]


uniprotID: Q99613
geneSymbol: EIF3C
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 3J8B;3J8C;
length: 913
go: ENSG00000184110;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03002}.
name:
Eukaryotic translation initiation factor 3 subunit C (eIF3c) (Eukaryotic translation initiation factor 3 subunit 8) (eIF3 p110)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; translation initiation factor binding [GO:0031369]; formation of cytoplasmic translation initiation complex [GO:0001732]; positive regulation of mRNA binding [GO:1902416]; positive regulation of translation [GO:0045727]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99613-1; Sequence=Displayed; Name=2; IsoId=Q99613-2; Sequence=VSP_055472; Note=No experimental confirmation available.; 


uniprotID: Q96FG2
geneSymbol: ELMOD3
length: 381
go: ENSG00000115459;
snps: rs7564372 rs955592 rs587777040
name:
ELMO domain-containing protein 3 (RNA-binding motif and ELMO domain-containing protein 1) (RNA-binding motif protein 29) (RNA-binding protein 29)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; kinocilium [GO:0060091]; stereocilium [GO:0032420]; positive regulation of GTPase activity [GO:0043547]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=B/C/D; IsoId=Q96FG2-1; Sequence=Displayed; Name=2; IsoId=Q96FG2-2; Sequence=VSP_022922, VSP_022923; Name=3; IsoId=Q96FG2-3; Sequence=VSP_022918; Name=5; IsoId=Q96FG2-5; Sequence=VSP_022919, VSP_022920; Note=No experimental confirmation available.; Name=6; Synonyms=A; IsoId=Q96FG2-6; Sequence=VSP_022924; 

location:
SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000269|PubMed:24039609}. Cell projection, kinocilium {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24039609}. Note=Also present in the cuticular plate of auditory hair cells. Expressed along the length of the stereocilia, but excluded from the very tip (By similarity). Colocalizes with F-actin cytoskeleton. {ECO:0000250}.


uniprotID: Q15723
geneSymbol: ELF2
reactome: R-HSA-8939245;
name: ETS-related transcription factor Elf-2 (E74-like factor 2) (New ETS-related factor)
length: 593
go: ENSG00000109381;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; cell differentiation [GO:0030154]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of B cell receptor signaling pathway [GO:0050855]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=5 {ECO:0000269|PubMed:8756667}; Synonyms=NERF-2b {ECO:0000303|PubMed:8756667}; IsoId=Q15723-5; Sequence=Displayed; Name=1 {ECO:0000269|PubMed:8756667}; Synonyms=NERF-2 {ECO:0000303|PubMed:8756667}, NERF-2a {ECO:0000303|PubMed:8756667}; IsoId=Q15723-1; Sequence=VSP_014155; Name=2 {ECO:0000269|PubMed:8756667}; Synonyms=NERF-1a {ECO:0000303|PubMed:8756667}; IsoId=Q15723-2; Sequence=VSP_014154, VSP_014155; Name=3 {ECO:0000269|PubMed:8756667}; Synonyms=NERF-1b {ECO:0000303|PubMed:8756667}; IsoId=Q15723-3; Sequence=VSP_014154; Name=4 {ECO:0000305}; IsoId=Q15723-4; Sequence=VSP_014154, VSP_014156; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q96JJ3
geneSymbol: ELMO2
reactome: R-HSA-2029482;R-HSA-4420097;R-HSA-8849471;
name: Engulfment and cell motility protein 2 (Protein ced-12 homolog A) (hCed-12A)
length: 720
go: ENSG00000062598;
snps: rs34630674
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; receptor tyrosine kinase binding [GO:0030971]; SH3 domain binding [GO:0017124]; apoptotic process [GO:0006915]; cell chemotaxis [GO:0060326]; cell-cell adhesion [GO:0098609]; cytoskeleton organization [GO:0007010]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JJ3-1; Sequence=Displayed; Name=2; IsoId=Q96JJ3-3; Sequence=VSP_055477; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20679435}. Cytoplasm, cytosol {ECO:0000269|PubMed:20679435}. Membrane {ECO:0000269|PubMed:20679435}.


uniprotID: Q99607
geneSymbol: ELF4
name: ETS-related transcription factor Elf-4 (E74-like factor 4) (Myeloid Elf-1-like factor)
length: 663
go: ENSG00000102034;
sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cell differentiation [GO:0030154]; innate immune response [GO:0045087]; natural killer cell proliferation [GO:0001787]; NK T cell proliferation [GO:0001866]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]

location:
SUBCELLULAR LOCATION: Nucleus, PML body {ECO:0000269|PubMed:14976184}. Note=Accumulation into PML nuclear bodies is mediated by PML.


uniprotID: P08246
geneSymbol: ELANE
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;R-HSA-6798695;R-HSA-6803157;R-HSA-977606;
length: 267
go: ENSG00000197561;
drug: DB00058;DB05161;DB00099;DB03925;DB00019;
pdb:
1B0F;1H1B;1HNE;1PPF;1PPG;2RG3;2Z7F;3Q76;3Q77;4NZL;4WVP;5A09;5A0A;5A0B;5A0C;5A8X;5A8Y;5A8Z;5ABW;6F5M;

name:
Neutrophil elastase (EC 3.4.21.37) (Bone marrow serine protease) (Elastase-2) (Human leukocyte elastase) (HLE) (Medullasin) (PMN elastase)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; specific granule lumen [GO:0035580]; transcriptional repressor complex [GO:0017053]; cytokine binding [GO:0019955]; endopeptidase activity [GO:0004175]; heparin binding [GO:0008201]; peptidase activity [GO:0008233]; protease binding [GO:0002020]; serine-type endopeptidase activity [GO:0004252]; transcription corepressor activity [GO:0003714]; acute inflammatory response to antigenic stimulus [GO:0002438]; antimicrobial humoral response [GO:0019730]; biosynthetic process of antibacterial peptides active against Gram-negative bacteria [GO:0002812]; cellular calcium ion homeostasis [GO:0006874]; defense response to bacterium [GO:0042742]; extracellular matrix disassembly [GO:0022617]; leukocyte migration involved in inflammatory response [GO:0002523]; negative regulation of chemokine biosynthetic process [GO:0045079]; negative regulation of chemotaxis [GO:0050922]; negative regulation of growth of symbiont in host [GO:0044130]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-8 biosynthetic process [GO:0045415]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neutrophil degranulation [GO:0043312]; neutrophil mediated killing of fungus [GO:0070947]; neutrophil mediated killing of gram-negative bacterium [GO:0070945]; phagocytosis [GO:0006909]; positive regulation of immune response [GO:0050778]; positive regulation of interleukin-8 biosynthetic process [GO:0045416]; positive regulation of leukocyte tethering or rolling [GO:1903238]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of smooth muscle cell proliferation [GO:0048661]; protein catabolic process [GO:0030163]; proteolysis [GO:0006508]; response to lipopolysaccharide [GO:0032496]; response to UV [GO:0009411]; response to yeast [GO:0001878]

snps:
rs1396230082 rs878855320 rs878855319 rs1131691882 rs1057520110 rs137854447 rs878855315 rs28931611 rs1064793108 rs267606781 rs137854449 rs137854449 rs1382122842 rs1131691520 rs377698556 rs137854450 rs201729066 rs774457980 rs137854448 rs200993994 rs57246956 rs57246956 rs201788817 rs201139487 rs137854446 rs137854451 rs17216656 rs137854445 rs17216663 rs17216670 


uniprotID: P15502
geneSymbol: ELN
reactome: R-HSA-1474228;R-HSA-1566948;R-HSA-2129379;
name: Elastin (Tropoelastin)
length: 786
go: ENSG00000049540;
drug: DB00533;
snps: rs2071307 rs17855988
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; elastic fiber [GO:0071953]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular matrix constituent conferring elasticity [GO:0030023]; extracellular matrix structural constituent [GO:0005201]; animal organ morphogenesis [GO:0009887]; aortic valve morphogenesis [GO:0003180]; blood circulation [GO:0008015]; cell proliferation [GO:0008283]; extracellular matrix organization [GO:0030198]; outflow tract morphogenesis [GO:0003151]; respiratory gaseous exchange [GO:0007585]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=13;  Comment=Additional isoforms seem to exist.; Name=3; IsoId=P15502-3; Sequence=Displayed; Name=1; IsoId=P15502-1; Sequence=VSP_012484, VSP_012485, VSP_012487; Name=2; IsoId=P15502-2; Sequence=VSP_012484, VSP_012487; Name=4; IsoId=P15502-4; Sequence=VSP_012484; Name=5; IsoId=P15502-5; Sequence=VSP_012481, VSP_012484, VSP_012487, VSP_012488; Note=No experimental confirmation available.; Name=6; IsoId=P15502-6; Sequence=VSP_012483, VSP_012487, VSP_012488; Name=7; IsoId=P15502-7; Sequence=VSP_012479, VSP_012483, VSP_012487, VSP_012488; Note=No experimental confirmation available.; Name=8; IsoId=P15502-8; Sequence=VSP_012482, VSP_012483, VSP_012486, VSP_012487, VSP_012488; Note=No experimental confirmation available.; Name=9; IsoId=P15502-9; Sequence=VSP_012485; Note=No experimental confirmation available.; Name=10; IsoId=P15502-10; Sequence=VSP_012485, VSP_012487; Note=No experimental confirmation available.; Name=11; IsoId=P15502-11; Sequence=VSP_012480, VSP_012482, VSP_012483, VSP_012487, VSP_012488; Note=No experimental confirmation available.; Name=12; IsoId=P15502-12; Sequence=VSP_012481, VSP_012483, VSP_012487, VSP_012488; Name=13; IsoId=P15502-13; Sequence=VSP_012483, VSP_012487; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:17035250}. Note=Extracellular matrix of elastic fibers. {ECO:0000269|PubMed:17035250}.


uniprotID: Q9HB65
geneSymbol: ELL3
reactome: R-HSA-6807505;
name: RNA polymerase II elongation factor ELL3
length: 397
snps: rs2277531 rs35454865
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10882741}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription elongation factor complex [GO:0008023]; enhancer binding [GO:0035326]; DNA-templated transcription, elongation [GO:0006354]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; positive regulation of DNA-templated transcription, elongation [GO:0032786]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of neurogenesis [GO:0050769]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of epithelial to mesenchymal transition [GO:0010717]; snRNA transcription by RNA polymerase II [GO:0042795]; spermatogenesis [GO:0007283]; stem cell differentiation [GO:0048863]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HB65-1; Sequence=Displayed; Name=2; IsoId=Q9HB65-2; Sequence=VSP_045937; Note=No experimental confirmation available.; 


uniprotID: Q15370
geneSymbol: ELOB
length: 118
go: ENSG00000103363;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
reactome:
R-HSA-112382;R-HSA-1234176;R-HSA-167152;R-HSA-167200;R-HSA-167238;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-180585;R-HSA-674695;R-HSA-6796648;R-HSA-75955;R-HSA-8951664;R-HSA-9010553;R-HSA-983168;

pdb:
1LM8;1LQB;1VCB;2C9W;2IZV;2JZ3;2MA9;3DCG;3ZKJ;3ZNG;3ZRC;3ZRF;3ZTC;3ZTD;3ZUN;4AJY;4AWJ;4B95;4B9K;4BKS;4BKT;4N9F;4W9C;4W9D;4W9E;4W9F;4W9G;4W9H;4W9I;4W9J;4W9K;4W9L;4WQO;5BO4;5LLI;5N4W;5NVV;5NVW;5NVX;5NVY;5NVZ;5NW0;5NW1;5NW2;5T35;6BVB;6C5X;6FMI;6FMJ;6FMK;6GFX;6GFY;6GFZ;6GMN;6GMQ;6GMR;6GMX;

name:
Elongin-B (EloB) (Elongin 18 kDa subunit) (RNA polymerase II transcription factor SIII subunit B) (SIII p18) (Transcription elongation factor B polypeptide 2)

sequence:
MDVFLMIRRHKTTIFTDAKESSTVFELKRIVEGILKRPPDEQRLYKDDQLLDDGKTLGECGFTSQTARPQAPATVGLAFRADDTFEALCIEPFSSPPELPDVMKPQDSGSSANEQAVQ

opentargets:
Cul2-RING ubiquitin ligase complex [GO:0031462]; Cul5-RING ubiquitin ligase complex [GO:0031466]; cytosol [GO:0005829]; elongin complex [GO:0070449]; nucleoplasm [GO:0005654]; VCB complex [GO:0030891]; ubiquitin protein ligase binding [GO:0031625]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; protein-containing complex assembly [GO:0065003]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15370-1; Sequence=Displayed; Name=2; IsoId=Q15370-2; Sequence=VSP_045784; Note=No experimental confirmation available.; 


uniprotID: Q96EB1
geneSymbol: ELP4
reactome: R-HSA-3214847;
name: Elongator complex protein 4 (hELP4) (PAX6 neighbor gene protein)
length: 424
go: ENSG00000109911;
snps: rs34804357
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; Elongator holoenzyme complex [GO:0033588]; nucleoplasm [GO:0005654]; transcription elongation factor complex [GO:0008023]; phosphorylase kinase regulator activity [GO:0008607]; RNA polymerase II complex binding [GO:0000993]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription elongation from RNA polymerase II promoter [GO:0006368]; tRNA wobble uridine modification [GO:0002098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96EB1-1; Sequence=Displayed; Name=2; IsoId=Q96EB1-2; Sequence=VSP_024409; Name=3; IsoId=Q96EB1-3; Sequence=VSP_054128, VSP_054129; Note=No experimental confirmation available.; 


uniprotID: Q6ZMW3
geneSymbol: EML6
length: 1958
go: ENSG00000214595;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
name:
Echinoderm microtubule-associated protein-like 6 (EMAP-6) (Echinoderm microtubule-associated protein-like 5-like)

sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; microtubule binding [GO:0008017]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZMW3-1; Sequence=Displayed; Name=2; IsoId=Q6ZMW3-2; Sequence=VSP_034221; 


uniprotID: Q15006
geneSymbol: EMC2
name: ER membrane protein complex subunit 2 (Tetratricopeptide repeat protein 35) (TPR repeat protein 35)
length: 297
go: ENSG00000104412;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:22119785}.
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; ER membrane protein complex [GO:0072546]; nucleus [GO:0005634]; protein folding in endoplasmic reticulum [GO:0034975]


uniprotID: Q32P44
geneSymbol: EML3
name: Echinoderm microtubule-associated protein-like 3 (EMAP-3)
length: 896
go: ENSG00000149499;
snps: rs34098002 rs34709729
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; microtubule binding [GO:0008017]; microtubule cytoskeleton organization [GO:0000226]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q32P44-1; Sequence=Displayed; Name=2; IsoId=Q32P44-2; Sequence=VSP_024483; Note=No experimental confirmation available.; Name=3; IsoId=Q32P44-3; Sequence=VSP_039926, VSP_039927, VSP_039928; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9HC35
geneSymbol: EML4
pdb: 4CGC;
length: 981
go: ENSG00000143924;
snps: rs6736913 rs10202624 rs28651764 rs28364731
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
name:
Echinoderm microtubule-associated protein-like 4 (EMAP-4) (Restrictedly overexpressed proliferation-associated protein) (Ropp 120)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; microtubule binding [GO:0008017]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HC35-1; Sequence=Displayed; Name=2; IsoId=Q9HC35-2; Sequence=VSP_047192; Note=No experimental confirmation available.; 


uniprotID: P02751
geneSymbol: FN1
name: Fibronectin (FN) (Cold-insoluble globulin) (CIG) [Cleaved into: Anastellin; Ugl-Y1; Ugl-Y2; Ugl-Y3]
length: 2386
go: ENSG00000115414;
drug: DB08888;
reactome:
R-HSA-114608;R-HSA-1474228;R-HSA-1474244;R-HSA-1566977;R-HSA-202733;R-HSA-2129379;R-HSA-216083;R-HSA-3000170;R-HSA-3000171;R-HSA-3000178;R-HSA-354192;R-HSA-354194;R-HSA-372708;R-HSA-381426;R-HSA-5674135;R-HSA-6785807;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-8874081;R-HSA-8957275;

pdb:
1E88;1E8B;1FBR;1FNA;1FNF;1FNH;1J8K;1O9A;1OWW;1Q38;1QGB;1QO6;1TTF;1TTG;2CG6;2CG7;2CK2;2CKU;2EC3;2FN2;2FNB;2GEE;2H41;2H45;2HA1;2MNU;2N1K;2OCF;2RKY;2RKZ;2RL0;3CAL;3EJH;3GXE;3M7P;3MQL;3R8Q;3T1W;3ZRZ;4GH7;4JE4;4JEG;4LXO;4MMX;4MMY;4MMZ;4PZ5;5DC0;5DC4;5DC9;5DFT;5J6Z;5J7C;5M0A;5N47;5N48;

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basement membrane [GO:0005604]; blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; fibrinogen complex [GO:0005577]; platelet alpha granule lumen [GO:0031093]; chaperone binding [GO:0051087]; collagen binding [GO:0005518]; disordered domain specific binding [GO:0097718]; enzyme binding [GO:0019899]; extracellular matrix structural constituent [GO:0005201]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; integrin binding [GO:0005178]; peptidase activator activity [GO:0016504]; protease binding [GO:0002020]; protein C-terminus binding [GO:0008022]; signaling receptor binding [GO:0005102]; acute-phase response [GO:0006953]; angiogenesis [GO:0001525]; calcium-independent cell-matrix adhesion [GO:0007161]; cell adhesion [GO:0007155]; cell-substrate junction assembly [GO:0007044]; cellular protein metabolic process [GO:0044267]; cytokine-mediated signaling pathway [GO:0019221]; endodermal cell differentiation [GO:0035987]; extracellular matrix organization [GO:0030198]; integrin activation [GO:0033622]; interaction with other organism via secreted substance involved in symbiotic interaction [GO:0052047]; interaction with symbiont [GO:0051702]; leukocyte migration [GO:0050900]; negative regulation of transforming growth factor-beta secretion [GO:2001202]; neural crest cell migration involved in autonomic nervous system development [GO:1901166]; peptide cross-linking [GO:0018149]; platelet degranulation [GO:0002576]; positive regulation of axon extension [GO:0045773]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of gene expression [GO:0010628]; positive regulation of substrate-dependent cell migration, cell attachment to substrate [GO:1904237]; post-translational protein modification [GO:0043687]; regulation of cell shape [GO:0008360]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of protein phosphorylation [GO:0001932]; response to wounding [GO:0009611]; substrate adhesion-dependent cell spreading [GO:0034446]; wound healing [GO:0042060]

snps:
rs1250259 rs2577301 rs752106647 rs137854488 rs11687611 rs137854486 rs137854487 rs1250209 rs17449032 rs1250209 rs1373375768 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=17;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P02751-1; Sequence=Displayed; Name=2; Synonyms=MSF-FN70, Migration stimulation factor FN70; IsoId=P02751-2; Sequence=VSP_003255, VSP_003256, VSP_003257; Name=3; Synonyms=V89; IsoId=P02751-3; Sequence=VSP_008110; Name=4; Synonyms=Fibronectin III-15X; IsoId=P02751-4; Sequence=VSP_008107, VSP_008111, VSP_008112; Name=5; Synonyms=Fibronectin (V+I-10)-; IsoId=P02751-5; Sequence=VSP_008107, VSP_008113; Name=6; Synonyms=Fibronectin (V+III-15)-; IsoId=P02751-6; Sequence=VSP_008109; Name=7; Synonyms=Fibronectin containing extra ED-B domain; IsoId=P02751-7; Sequence=VSP_008104, VSP_008110; Name=8; Synonyms=Fibronectin not containing EIIIA domain; IsoId=P02751-8; Sequence=VSP_008106; Name=9; Synonyms=Fibronectin not containing EIIIA and EIIIB and uses V64 variant of IIICS region; IsoId=P02751-9; Sequence=VSP_008106, VSP_008108, VSP_008110; Name=10; IsoId=P02751-10; Sequence=VSP_008106, VSP_008107; Name=11; Synonyms=Fibronectin containing extra type III repeat (EDII), exon x+2; IsoId=P02751-11; Sequence=VSP_008105; Name=12; IsoId=P02751-12; Sequence=VSP_013681, VSP_008106, VSP_008108, VSP_008110; Name=13; IsoId=P02751-13; Sequence=VSP_008104, VSP_008106, VSP_008107; Note=No experimental confirmation available.; Name=14; IsoId=P02751-14; Sequence=VSP_008106, VSP_008110; Name=15; IsoId=P02751-15; Sequence=VSP_008104; Note=No experimental confirmation available.; Name=16; Synonyms=Migration stimulation factor, MSF; IsoId=P02751-16; Sequence=VSP_003256, VSP_003257; Note=Expressed by fetal and tumor-associated cells.; Name=17; IsoId=P02751-17; Sequence=VSP_047310, VSP_047311; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000305|PubMed:29100092}.


uniprotID: P62942
geneSymbol: FKBP1A
reactome: R-HSA-2025928;R-HSA-2173789;R-HSA-2173791;R-HSA-3645790;R-HSA-3656532;R-HSA-3656535;
length: 108
go: ENSG00000088832;
drug: DB04094;DB02888;DB01951;DB05814;DB03338;DB02311;DB08231;DB00337;DB00877;DB00864;
pdb:
1A7X;1B6C;1BKF;1BL4;1D6O;1D7H;1D7I;1D7J;1EYM;1F40;1FAP;1FKB;1FKD;1FKF;1FKG;1FKH;1FKI;1FKJ;1FKR;1FKS;1FKT;1J4H;1J4I;1J4R;1NSG;1QPF;1QPL;2DG3;2DG4;2DG9;2FAP;2FKE;2ND5;2PPN;2PPO;2PPP;2RSE;3FAP;3H9R;3MDY;4DH0;4FAP;4IPX;4N19;4ODP;4ODQ;4ODR;5I7P;5I7Q;

name:
Peptidyl-prolyl cis-trans isomerase FKBP1A (PPIase FKBP1A) (EC 5.2.1.8) (12 kDa FK506-binding protein) (12 kDa FKBP) (FKBP-12) (Calstabin-1) (FK506-binding protein 1A) (FKBP-1A) (Immunophilin FKBP12) (Rotamase)

sequence:
MGVQVETISPGDGRTFPKRGQTCVVHYTGMLEDGKKFDSSRDRNKPFKFMLGKQEVIRGWEEGVAQMSVGQRAKLTISPDYAYGATGHPGIIPPHATLVFDVELLKLE

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of membrane [GO:0098562]; cytosol [GO:0005829]; extrinsic component of organelle membrane [GO:0031312]; membrane [GO:0016020]; ryanodine receptor complex [GO:1990425]; sarcoplasmic reticulum [GO:0016529]; terminal cisterna [GO:0014802]; Z disc [GO:0030018]; activin binding [GO:0048185]; FK506 binding [GO:0005528]; ion channel binding [GO:0044325]; macrolide binding [GO:0005527]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; SMAD binding [GO:0046332]; transforming growth factor beta receptor binding [GO:0005160]; type I transforming growth factor beta receptor binding [GO:0034713]; 'de novo' protein folding [GO:0006458]; amyloid fibril formation [GO:1990000]; calcium ion transmembrane transport [GO:0070588]; chaperone-mediated protein folding [GO:0061077]; heart morphogenesis [GO:0003007]; heart trabecula formation [GO:0060347]; negative regulation of phosphoprotein phosphatase activity [GO:0032515]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of protein binding [GO:0032092]; positive regulation of protein ubiquitination [GO:0031398]; protein folding [GO:0006457]; protein maturation by protein folding [GO:0022417]; protein peptidyl-prolyl isomerization [GO:0000413]; protein refolding [GO:0042026]; regulation of activin receptor signaling pathway [GO:0032925]; regulation of amyloid precursor protein catabolic process [GO:1902991]; regulation of immune response [GO:0050776]; regulation of protein localization [GO:0032880]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; SMAD protein complex assembly [GO:0007183]; supramolecular fiber organization [GO:0097435]; T cell activation [GO:0042110]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:1701173}. Sarcoplasmic reticulum membrane {ECO:0000250|UniProtKB:P62943}; Peripheral membrane protein {ECO:0000250|UniProtKB:P62943}; Cytoplasmic side {ECO:0000250|UniProtKB:P62943}.


uniprotID: Q9H0I2
geneSymbol: ENKD1
name: Enkurin domain-containing protein 1
length: 346
go: ENSG00000124074;
opentargets: cytoplasmic microtubule [GO:0005881]; microtubule cytoskeleton [GO:0015630]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0I2-1; Sequence=Displayed; Name=2; IsoId=Q9H0I2-2; Sequence=VSP_021904, VSP_021905; Note=No experimental confirmation available.; 


uniprotID: Q8TC29
geneSymbol: ENKUR
name: Enkurin
length: 256
go: ENSG00000151023;
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; sperm principal piece [GO:0097228]; calmodulin binding [GO:0005516]; SH3 domain binding [GO:0017124]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum. Note=Sperm acrosomal crescent and flagellar principal piece.


uniprotID: Q9N2J8
length: 555
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
name:
HERV-H_2q24.1 provirus ancestral Env polyprotein (Env protein HERV-H/p59) (Envelope polyprotein) (HERV-H/env59) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:

location:
SUBCELLULAR LOCATION: Virion.; SUBCELLULAR LOCATION: Transmembrane protein: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: O75521
geneSymbol: ECI2
reactome: R-HSA-390247;R-HSA-9033241;
pdb: 2CQU;2F6Q;4U18;4U19;4U1A;
length: 394
go: ENSG00000198721;
drug: DB08231;
snps: rs3177253 rs7166
name:
Enoyl-CoA delta isomerase 2, mitochondrial (EC 5.3.3.8) (DRS-1) (Delta(3),delta(2)-enoyl-CoA isomerase) (D3,D2-enoyl-CoA isomerase) (Diazepam-binding inhibitor-related protein 1) (DBI-related protein 1) (Dodecenoyl-CoA isomerase) (Hepatocellular carcinoma-associated antigen 88) (Peroxisomal 3,2-trans-enoyl-CoA isomerase) (pECI) (Renal carcinoma antigen NY-REN-1)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; dodecenoyl-CoA delta-isomerase activity [GO:0004165]; fatty-acyl-CoA binding [GO:0000062]; signaling receptor binding [GO:0005102]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; fatty acid catabolic process [GO:0009062]; protein targeting to peroxisome [GO:0006625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75521-1; Sequence=Displayed; Name=2; IsoId=O75521-2; Sequence=VSP_037854; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Peroxisome matrix.


uniprotID: Q5JST6
geneSymbol: EFHC2
pdb: 2Z13;2Z14;
name: EF-hand domain-containing family member C2
length: 749
go: ENSG00000183690;
opentargets: calcium ion binding [GO:0005509]; cellular response to leukemia inhibitory factor [GO:1990830]
snps: rs17146914 rs61636783 rs7062352 rs2208592 rs3747354
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JST6-1; Sequence=Displayed; Name=2; IsoId=Q5JST6-2; Sequence=VSP_020766; Note=No experimental confirmation available.; 


uniprotID: P05305
geneSymbol: EDN1
reactome: R-HSA-375276;R-HSA-416476;
pdb: 1EDN;1EDP;1T7H;1V6R;5GLH;
name: Endothelin-1 (Preproendothelin-1) (PPET1) [Cleaved into: Endothelin-1 (ET-1); Big endothelin-1]
length: 212
go: ENSG00000078401;
drug: DB05407;
snps: rs587777233 rs587777232 rs587777231 rs6413478 rs5370
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
basal part of cell [GO:0045178]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; rough endoplasmic reticulum lumen [GO:0048237]; transport vesicle [GO:0030133]; Weibel-Palade body [GO:0033093]; cytokine activity [GO:0005125]; endothelin A receptor binding [GO:0031707]; endothelin B receptor binding [GO:0031708]; hormone activity [GO:0005179]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; artery smooth muscle contraction [GO:0014824]; body fluid secretion [GO:0007589]; branching involved in blood vessel morphogenesis [GO:0001569]; calcium-mediated signaling [GO:0019722]; cartilage development [GO:0051216]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cellular response to calcium ion [GO:0071277]; cellular response to drug [GO:0035690]; cellular response to fatty acid [GO:0071398]; cellular response to glucocorticoid stimulus [GO:0071385]; cellular response to hypoxia [GO:0071456]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to mineralocorticoid stimulus [GO:0071389]; cellular response to peptide hormone stimulus [GO:0071375]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cellular response to tumor necrosis factor [GO:0071356]; dorsal/ventral pattern formation [GO:0009953]; epithelial fluid transport [GO:0042045]; G protein-coupled receptor signaling pathway [GO:0007186]; heart development [GO:0007507]; histamine secretion [GO:0001821]; in utero embryonic development [GO:0001701]; inositol phosphate-mediated signaling [GO:0048016]; leukocyte activation [GO:0045321]; maternal process involved in parturition [GO:0060137]; membrane depolarization [GO:0051899]; middle ear morphogenesis [GO:0042474]; multicellular organism aging [GO:0010259]; negative regulation of blood coagulation [GO:0030195]; negative regulation of cellular protein metabolic process [GO:0032269]; negative regulation of hormone secretion [GO:0046888]; negative regulation of nitric-oxide synthase biosynthetic process [GO:0051771]; negative regulation of smooth muscle cell apoptotic process [GO:0034392]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neural crest cell development [GO:0014032]; nitric oxide transport [GO:0030185]; peptide hormone secretion [GO:0030072]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phospholipase D-activating G protein-coupled receptor signaling pathway [GO:0031583]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of cell growth involved in cardiac muscle cell development [GO:0061051]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell size [GO:0045793]; positive regulation of chemokine-mediated signaling pathway [GO:0070101]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of heart rate [GO:0010460]; positive regulation of hormone secretion [GO:0046887]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of odontogenesis [GO:0042482]; positive regulation of prostaglandin secretion [GO:0032308]; positive regulation of prostaglandin-endoperoxide synthase activity [GO:0060585]; positive regulation of receptor biosynthetic process [GO:0010870]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of sarcomere organization [GO:0060298]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of urine volume [GO:0035810]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; prostaglandin biosynthetic process [GO:0001516]; protein kinase C deactivation [GO:0042313]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of glucose transmembrane transport [GO:0010827]; regulation of pH [GO:0006885]; regulation of sensory perception of pain [GO:0051930]; regulation of systemic arterial blood pressure by endothelin [GO:0003100]; regulation of vasoconstriction [GO:0019229]; respiratory gaseous exchange [GO:0007585]; response to activity [GO:0014823]; response to amino acid [GO:0043200]; response to dexamethasone [GO:0071548]; response to leptin [GO:0044321]; response to lipopolysaccharide [GO:0032496]; response to muscle stretch [GO:0035994]; response to nicotine [GO:0035094]; response to ozone [GO:0010193]; response to prostaglandin F [GO:0034696]; response to salt [GO:1902074]; response to testosterone [GO:0033574]; rhythmic excitation [GO:0043179]; sensory perception of pain [GO:0019233]; superoxide anion generation [GO:0042554]; vasoconstriction [GO:0042310]; vein smooth muscle contraction [GO:0014826]


uniprotID: Q63HQ2
geneSymbol: EGFLAM
length: 1017
go: ENSG00000164318;
snps: rs12522205 rs2561111 rs1465567 rs16903965 rs6897179 rs2561818
name:
Pikachurin (Agrin-like protein) (EGF-like, fibronectin type-III and laminin G-like domain-containing protein)

sequence:

opentargets:
basement membrane [GO:0005604]; cell junction [GO:0030054]; interstitial matrix [GO:0005614]; synapse [GO:0045202]; calcium ion binding [GO:0005509]; glycosaminoglycan binding [GO:0005539]; extracellular matrix organization [GO:0030198]; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan [GO:0019800]; positive regulation of cell-substrate adhesion [GO:0010811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q63HQ2-1; Sequence=Displayed; Name=2; IsoId=Q63HQ2-2; Sequence=VSP_028481; Name=3; IsoId=Q63HQ2-3; Sequence=VSP_028476, VSP_028481; Name=4; IsoId=Q63HQ2-4; Sequence=VSP_028477, VSP_028478, VSP_028481; Name=5; IsoId=Q63HQ2-5; Sequence=VSP_028475; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:Q4VBE4}. Cell junction, synapse {ECO:0000250|UniProtKB:Q4VBE4}. Note=Detected in the synaptic cleft of the ribbon synapse around the postsynaptic terminals of bipolar cells. Colocalizes with BSN, CTBP2 and DAG1 in photoreceptor synaptic terminals. {ECO:0000250|UniProtKB:Q4VBE4}.


uniprotID: Q9GZT9
geneSymbol: EGLN1
reactome: R-HSA-1234176;
length: 426
go: ENSG00000135766;
drug: DB04847;DB08687;DB07112;DB00126;
snps: rs186996510 rs12097901 rs80358193 rs119476044
pdb:
2G19;2G1M;2HBT;2HBU;2Y33;2Y34;3HQR;3HQU;3OUH;3OUI;3OUJ;4BQW;4BQX;4BQY;4JZR;4KBZ;4UWD;5A3U;5L9B;5L9R;5L9V;5LA9;5LAS;5LAT;5LB6;5LBB;5LBC;5LBE;5LBF;5OX5;5OX6;5V18;

name:
Egl nine homolog 1 (EC 1.14.11.29) (Hypoxia-inducible factor prolyl hydroxylase 2) (HIF-PH2) (HIF-prolyl hydroxylase 2) (HPH-2) (Prolyl hydroxylase domain-containing protein 2) (PHD2) (SM-20)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; enzyme binding [GO:0019899]; ferrous iron binding [GO:0008198]; L-ascorbic acid binding [GO:0031418]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors [GO:0016706]; peptidyl-proline 4-dioxygenase activity [GO:0031545]; peptidyl-proline dioxygenase activity [GO:0031543]; cardiac muscle tissue morphogenesis [GO:0055008]; cellular iron ion homeostasis [GO:0006879]; heart trabecula formation [GO:0060347]; labyrinthine layer development [GO:0060711]; negative regulation of cyclic-nucleotide phosphodiesterase activity [GO:0051344]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; oxygen homeostasis [GO:0032364]; peptidyl-proline hydroxylation to 4-hydroxy-L-proline [GO:0018401]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of angiogenesis [GO:0045765]; regulation of neuron death [GO:1901214]; regulation of postsynapse organization [GO:0099175]; regulation of protein catabolic process at postsynapse, modulating synaptic transmission [GO:0099576]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; response to hypoxia [GO:0001666]; response to nitric oxide [GO:0071731]; ventricular septum morphogenesis [GO:0060412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9GZT9-1; Sequence=Displayed; Name=2; IsoId=Q9GZT9-2; Sequence=VSP_007569; Note=Inactive isoform.; Name=3; IsoId=Q9GZT9-3; Sequence=VSP_042191; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12615973, ECO:0000269|PubMed:19339211, ECO:0000269|PubMed:19631610}. Nucleus {ECO:0000269|PubMed:12615973, ECO:0000269|PubMed:19339211, ECO:0000269|PubMed:19631610}. Note=Mainly cytoplasmic. Shuttles between the nucleus and cytoplasm (PubMed:19631610). Nuclear export requires functional XPO1. {ECO:0000269|PubMed:19339211, ECO:0000269|PubMed:19631610}.


uniprotID: Q05215
geneSymbol: EGR4
name: Early growth response protein 4 (EGR-4) (AT133)
length: 589
go: ENSG00000135625;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; cellular response to growth factor stimulus [GO:0071363]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q9NZN3
geneSymbol: EHD3
reactome: R-HSA-983231;
name: EH domain-containing protein 3 (PAST homolog 3)
length: 535
go: ENSG00000013016;
sequence:

opentargets:
ciliary pocket membrane [GO:0020018]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; endosome membrane [GO:0010008]; focal adhesion [GO:0005925]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; recycling endosome membrane [GO:0055038]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; GTP binding [GO:0005525]; nucleic acid binding [GO:0003676]; blood coagulation [GO:0007596]; cilium assembly [GO:0060271]; early endosome to Golgi transport [GO:0034498]; endocytic recycling [GO:0032456]; Golgi to lysosome transport [GO:0090160]; positive regulation of voltage-gated calcium channel activity [GO:1901387]; protein homooligomerization [GO:0051260]; protein localization to plasma membrane [GO:0072659]; protein transport [GO:0015031]; receptor recycling [GO:0001881]; regulation of cardiac conduction [GO:1903779]; regulation of cardiac muscle cell membrane potential [GO:0086036]; regulation of cardiac muscle contraction [GO:0055117]; regulation of Golgi organization [GO:1903358]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZN3-1; Sequence=Displayed; Name=2; IsoId=Q9NZN3-2; Sequence=VSP_056606, VSP_056607; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Recycling endosome membrane {ECO:0000269|PubMed:17233914}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:17233914}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell projection, cilium membrane {ECO:0000269|PubMed:25686250}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Note=Localizes to the ciliary pocket from where the cilium protrudes (PubMed:25686250). Colocalizes with RAB8A and MYO5B to a cytoplasmic tubular network devoid of RAB11A (By similarity). Colocalizes with ANK2 in myocyte perinuclear region (PubMed:20489164). Colocalizes with BACE1 in tubulovesicular cytoplasmic membranes. Colocalizes with BACE1 and APP amyloid beta proteins in hippocampal mossy fiber terminals (By similarity). {ECO:0000250|UniProtKB:Q9QXY6, ECO:0000269|PubMed:20489164, ECO:0000269|PubMed:25686250}.


uniprotID: Q13144
geneSymbol: EIF2B5
reactome: R-HSA-72731;
pdb: 3JUI;6CAJ;6EZO;
length: 721
go: ENSG00000145191;
name:
Translation initiation factor eIF-2B subunit epsilon (eIF-2B GDP-GTP exchange factor subunit epsilon)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation initiation factor 2B complex [GO:0005851]; nucleus [GO:0005634]; guanyl-nucleotide exchange factor activity [GO:0005085]; translation initiation factor activity [GO:0003743]; translation initiation factor binding [GO:0031369]; aging [GO:0007568]; astrocyte development [GO:0014002]; astrocyte differentiation [GO:0048708]; hippocampus development [GO:0021766]; myelination [GO:0042552]; oligodendrocyte development [GO:0014003]; ovarian follicle development [GO:0001541]; positive regulation of apoptotic process [GO:0043065]; positive regulation of translational initiation [GO:0045948]; response to endoplasmic reticulum stress [GO:0034976]; response to glucose [GO:0009749]; response to heat [GO:0009408]; response to lithium ion [GO:0010226]; response to peptide hormone [GO:0043434]; T cell receptor signaling pathway [GO:0050852]; translational initiation [GO:0006413]

snps:
rs113994044 rs113994045 rs113994046 rs28939717 rs113994048 rs113994050 rs113994049 rs113994055 rs113994054 rs2971409 rs113994058 rs113994057 rs397514646 rs113994060 rs113994062 rs113994063 rs113994063 rs113994064 rs113994067 rs113994069 rs113994069 rs113994068 rs113994074 rs113994079 rs113994080 rs843358 rs28937596 rs113994085 


uniprotID: Q9NZC4
geneSymbol: EHF
length: 300
go: ENSG00000135373;
snps: rs9804460
name:
ETS homologous factor (hEHF) (ETS domain-containing transcription factor) (Epithelium-specific Ets transcription factor 3) (ESE-3)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; epithelial cell differentiation [GO:0030855]; epithelial cell proliferation [GO:0050673]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:10527851, ECO:0000269|PubMed:10644770, ECO:0000269|PubMed:11259407}; Synonyms=ESE-3B {ECO:0000269|PubMed:10644770}; IsoId=Q9NZC4-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:10644770}; Synonyms=ESE-3A {ECO:0000269|PubMed:10644770}; IsoId=Q9NZC4-2; Sequence=VSP_052190; Name=3; IsoId=Q9NZC4-3; Sequence=VSP_046373; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00237, ECO:0000269|PubMed:11259407, ECO:0000269|PubMed:12444029}.


uniprotID: Q9NR50
geneSymbol: EIF2B3
reactome: R-HSA-72731;
pdb: 6CAJ;6EZO;
name: Translation initiation factor eIF-2B subunit gamma (eIF-2B GDP-GTP exchange factor subunit gamma)
length: 452
go: ENSG00000070785;
snps: rs397514647 rs113994022 rs113994024 rs3738247 rs119474039
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation initiation factor 2B complex [GO:0005851]; guanyl-nucleotide exchange factor activity [GO:0005085]; nucleotidyltransferase activity [GO:0016779]; translation initiation factor activity [GO:0003743]; hippocampus development [GO:0021766]; oligodendrocyte development [GO:0014003]; response to glucose [GO:0009749]; response to heat [GO:0009408]; response to peptide hormone [GO:0043434]; T cell receptor signaling pathway [GO:0050852]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9NR50-1; Sequence=Displayed; Name=2; IsoId=Q9NR50-2; Sequence=VSP_001436; Name=3; IsoId=Q9NR50-3; Sequence=VSP_001435; 


uniprotID: P22455
geneSymbol: FGFR4
pdb: 1QCT;4QQ5;4QQC;4QQJ;4QQT;4QRC;4R6V;4TYE;4TYG;4TYI;4TYJ;4UXQ;4XCU;5JKG;5NUD;5NWZ;5XFF;5XFJ;
name: Fibroblast growth factor receptor 4 (FGFR-4) (EC 2.7.10.1) (CD antigen CD334)
length: 802
go: ENSG00000160867;
drug: DB09078;DB00039;DB08901;
snps: rs1966265 rs376618 rs55675160 rs351855 rs55879131 rs34158682 rs34284947 rs774571806
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1307965;R-HSA-1839128;R-HSA-190322;R-HSA-2219530;R-HSA-5654228;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654733;R-HSA-5655291;R-HSA-5673001;R-HSA-6811558;

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endosome [GO:0005768]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; transport vesicle [GO:0030133]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; ATP binding [GO:0005524]; fibroblast growth factor binding [GO:0017134]; fibroblast growth factor-activated receptor activity [GO:0005007]; heparin binding [GO:0008201]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; cholesterol homeostasis [GO:0042632]; fibroblast growth factor receptor signaling pathway [GO:0008543]; glucose homeostasis [GO:0042593]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; peptidyl-tyrosine phosphorylation [GO:0018108]; phosphate ion homeostasis [GO:0055062]; positive regulation of catalytic activity [GO:0043085]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of proteolysis [GO:0045862]; protein autophosphorylation [GO:0046777]; regulation of bile acid biosynthetic process [GO:0070857]; regulation of extracellular matrix disassembly [GO:0010715]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P22455-1; Sequence=Displayed; Name=2; Synonyms=Soluble-form; IsoId=P22455-2; Sequence=VSP_035108; Name=3; IsoId=P22455-3; Sequence=VSP_053542; Note=Lacks a signal peptide. Constitutively phosphorylated.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Endosome. Endoplasmic reticulum. Note=Internalized from the cell membrane to recycling endosomes, and from there back to the cell membrane.; SUBCELLULAR LOCATION: Isoform 2: Secreted.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:11781352}.


uniprotID: Q14152
geneSymbol: EIF3A
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 3J8B;3J8C;
length: 1382
go: ENSG00000107581;
snps: rs967185 rs431898 rs532138
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03000, ECO:0000269|PubMed:9150439}.
name:
Eukaryotic translation initiation factor 3 subunit A (eIF3a) (Eukaryotic translation initiation factor 3 subunit 10) (eIF-3-theta) (eIF3 p167) (eIF3 p180) (eIF3 p185)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; eukaryotic translation initiation factor 3 complex, eIF3e [GO:0071540]; eukaryotic translation initiation factor 3 complex, eIF3m [GO:0071541]; membrane [GO:0016020]; microtubule [GO:0005874]; multi-eIF complex [GO:0043614]; nucleolus [GO:0005730]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; mRNA binding [GO:0003729]; receptor tyrosine kinase binding [GO:0030971]; RNA binding [GO:0003723]; structural molecule activity [GO:0005198]; translation initiation factor activity [GO:0003743]; formation of cytoplasmic translation initiation complex [GO:0001732]; IRES-dependent viral translational initiation [GO:0075522]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; translation reinitiation [GO:0002188]; translational initiation [GO:0006413]; viral translational termination-reinitiation [GO:0075525]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14152-1; Sequence=Displayed; Name=2; IsoId=Q14152-2; Sequence=VSP_055471; Note=No experimental confirmation available.; 


uniprotID: Q8N441
geneSymbol: FGFRL1
reactome: R-HSA-5658623;
length: 504
go: ENSG00000127418;
snps: rs4647930 rs4647932
name:
Fibroblast growth factor receptor-like 1 (FGF receptor-like protein 1) (FGF homologous factor receptor) (FGFR-like protein) (Fibroblast growth factor receptor 5) (FGFR-5)

sequence:

opentargets:
cell-cell contact zone [GO:0044291]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; transport vesicle [GO:0030133]; fibroblast growth factor binding [GO:0017134]; fibroblast growth factor-activated receptor activity [GO:0005007]; heparin binding [GO:0008201]; cell-cell adhesion via plasma-membrane adhesion molecules [GO:0098742]; diaphragm development [GO:0060539]; fibroblast growth factor receptor signaling pathway [GO:0008543]; heart valve morphogenesis [GO:0003179]; negative regulation of cell proliferation [GO:0008285]; protein homooligomerization [GO:0051260]; skeletal system development [GO:0001501]; ventricular septum morphogenesis [GO:0060412]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:12813049}; Single-pass type I membrane protein {ECO:0000269|PubMed:12813049}. Note=Predominantly localized in the plasma membrane but also detected in the Golgi and in secretory vesicles.


uniprotID: O75821
geneSymbol: EIF3G
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 2CQ0;2MJC;5K0Y;
length: 320
go: ENSG00000130811;
name:
Eukaryotic translation initiation factor 3 subunit G (eIF3g) (Eukaryotic translation initiation factor 3 RNA-binding subunit) (eIF-3 RNA-binding subunit) (Eukaryotic translation initiation factor 3 subunit 4) (eIF-3-delta) (eIF3 p42) (eIF3 p44)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; perinuclear region of cytoplasm [GO:0048471]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; formation of cytoplasmic translation initiation complex [GO:0001732]; translational initiation [GO:0006413]; viral translational termination-reinitiation [GO:0075525]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03006}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03006, ECO:0000269|PubMed:17094969}. Cytoplasm, perinuclear region {ECO:0000255|HAMAP-Rule:MF_03006, ECO:0000269|PubMed:17094969}. Note=Colocalizes with AIFM1 in the nucleus and perinuclear region.


uniprotID: B5ME19
geneSymbol: EIF3CL
name: Eukaryotic translation initiation factor 3 subunit C-like protein
length: 914
go: ENSG00000205609;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q99613}.
sequence:

opentargets:
eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; translation initiation factor activity [GO:0003743]; translation initiation factor binding [GO:0031369]; formation of cytoplasmic translation initiation complex [GO:0001732]; translational initiation [GO:0006413]


uniprotID: Q15717
geneSymbol: ELAVL1
reactome: R-HSA-450520;R-HSA-72163;
pdb: 3HI9;4ED5;4EGL;4FXV;5SZW;
name: ELAV-like protein 1 (Hu-antigen R) (HuR)
length: 326
go: ENSG00000066044;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; postsynapse [GO:0098794]; ribonucleoprotein complex [GO:1990904]; AU-rich element binding [GO:0017091]; double-stranded RNA binding [GO:0003725]; miRNA binding [GO:0035198]; mRNA 3'-UTR AU-rich region binding [GO:0035925]; mRNA 3'-UTR binding [GO:0003730]; mRNA binding [GO:0003729]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; 3'-UTR-mediated mRNA stabilization [GO:0070935]; mRNA splicing, via spliceosome [GO:0000398]; mRNA stabilization [GO:0048255]; multicellular organism development [GO:0007275]; negative regulation of gene silencing by miRNA [GO:0060965]; positive regulation of translation [GO:0045727]; protein homooligomerization [GO:0051260]; regulation of mRNA stability [GO:0043488]; regulation of stem cell population maintenance [GO:2000036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15717-1; Sequence=Displayed; Name=2; IsoId=Q15717-2; Sequence=VSP_056148; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14517288, ECO:0000269|PubMed:17632515, ECO:0000269|PubMed:18285462, ECO:0000269|PubMed:19029303}. Nucleus {ECO:0000269|PubMed:14517288, ECO:0000269|PubMed:17632515, ECO:0000269|PubMed:18285462}. Cytoplasm, Stress granule {ECO:0000250|UniProtKB:P70372}. Note=Translocates into the cytoplasm following phosphorylation by MAPKAPK2 (PubMed:14517288). Likewise, phosphorylation by PRKCD promotes translocation from the nucleus into the cytoplasm, where it is associated with free and cytoskeleton-bound polysomes (PubMed:18285462).Localizes to the stress granules in the presence of PLEKHN1 (By similarity). {ECO:0000250|UniProtKB:P70372, ECO:0000269|PubMed:14517288, ECO:0000269|PubMed:18285462}.


uniprotID: Q5T6L9
geneSymbol: ERMARD
length: 678
go: ENSG00000130023;
snps: rs398122410 rs4716346
name:
Endoplasmic reticulum membrane-associated RNA degradation protein (ER membrane-associated RNA degradation protein)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; multicellular organism development [GO:0007275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5T6L9-1; Sequence=Displayed; Name=2; IsoId=Q5T6L9-2; Sequence=VSP_026951; Note=No experimental confirmation available.; Name=3; IsoId=Q5T6L9-3; Sequence=VSP_026952; Note=No experimental confirmation available.; Name=4; IsoId=Q5T6L9-4; Sequence=VSP_053708; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:24056535}; Multi-pass membrane protein {ECO:0000269|PubMed:24056535}.


uniprotID: P50402
geneSymbol: EMD
reactome: R-HSA-2993913;R-HSA-2995383;R-HSA-4419969;
pdb: 1JEI;2ODC;2ODG;6GHD;
name: Emerin
length: 254
go: ENSG00000102119;
snps: rs2070818 rs104894805 rs104894806
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; microtubule [GO:0005874]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]; nuclear membrane [GO:0031965]; nuclear outer membrane [GO:0005640]; nucleoplasm [GO:0005654]; spindle [GO:0005819]; actin binding [GO:0003779]; beta-tubulin binding [GO:0048487]; cadherin binding [GO:0045296]; cellular response to growth factor stimulus [GO:0071363]; mitotic nuclear envelope reassembly [GO:0007084]; muscle contraction [GO:0006936]; muscle organ development [GO:0007517]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of fibroblast proliferation [GO:0048147]; positive regulation of protein export from nucleus [GO:0046827]; regulation of canonical Wnt signaling pathway [GO:0060828]; skeletal muscle cell differentiation [GO:0035914]

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000269|PubMed:19167377}; Single-pass membrane protein; Nucleoplasmic side {ECO:0000269|PubMed:19167377}. Nucleus outer membrane. Note=Colocalized with BANF1 at the central region of the assembling nuclear rim, near spindle-attachment sites. The accumulation of different intermediates of prelamin-A/C (non-farnesylated or carboxymethylated farnesylated prelamin-A/C) in fibroblasts modify its localization in the nucleus.


uniprotID: Q6PCB8
geneSymbol: EMB
reactome: R-HSA-433692;
name: Embigin
length: 327
go: ENSG00000170571;
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; synapse [GO:0045202]; cell-cell adhesion mediator activity [GO:0098632]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; axon guidance [GO:0007411]; dendrite self-avoidance [GO:0070593]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; plasma membrane lactate transport [GO:0035879]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PCB8-1; Sequence=Displayed; Name=2; IsoId=Q6PCB8-2; Sequence=VSP_055593; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O88775}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:O88775}. Cell junction, synapse {ECO:0000250|UniProtKB:P21995}. Note=Localizes to the neuromuscular junctions. {ECO:0000250|UniProtKB:P21995}.


uniprotID: Q9BVA6
geneSymbol: FICD
pdb: 4U04;4U07;4U0S;4U0U;4U0Z;
length: 458
go: ENSG00000198855;
name:
Adenosine monophosphate-protein transferase FICD (EC 2.7.7.n1) (AMPylator FICD) (De-AMPylase FICD) (EC 3.1.4.-) (FIC domain-containing protein) (Huntingtin yeast partner E) (Huntingtin-interacting protein 13) (HIP-13) (Huntingtin-interacting protein E)

sequence:

opentargets:
integral component of endoplasmic reticulum membrane [GO:0030176]; ATP binding [GO:0005524]; chaperone binding [GO:0051087]; Hsp70 protein binding [GO:0030544]; identical protein binding [GO:0042802]; protein adenylylhydrolase activity [GO:0044603]; protein adenylyltransferase activity [GO:0070733]; protein homodimerization activity [GO:0042803]; negative regulation of GTPase activity [GO:0034260]; protein adenylylation [GO:0018117]; protein deadenylylation [GO:0044602]; regulation of IRE1-mediated unfolded protein response [GO:1903894]; response to endoplasmic reticulum stress [GO:0034976]; response to unfolded protein [GO:0006986]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:25601083}; Single-pass type II membrane protein {ECO:0000305|PubMed:25601083}.


uniprotID: Q8N766
geneSymbol: EMC1
name: ER membrane protein complex subunit 1
length: 993
go: ENSG00000127463;
snps: rs869320625 rs869320623 rs3850531 rs709683 rs709682 rs879253819 rs869320626
sequence:

opentargets:
ER membrane protein complex [GO:0072546]; integral component of membrane [GO:0016021]; protein-containing complex [GO:0032991]; protein folding in endoplasmic reticulum [GO:0034975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N766-1; Sequence=Displayed; Name=2; IsoId=Q8N766-2; Sequence=VSP_020328; Note=No experimental confirmation available.; Name=3; IsoId=Q8N766-3; Sequence=VSP_020329; Name=4; IsoId=Q8N766-4; Sequence=VSP_020327; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:22119785}; Single-pass type I membrane protein {ECO:0000269|PubMed:22119785}.


uniprotID: Q9BXX0
geneSymbol: EMILIN2
reactome: R-HSA-2129379;
length: 1053
go: ENSG00000132205;
snps: rs16943977 rs35267664 rs56288451
name:
EMILIN-2 (Elastin microfibril interface-located protein 2) (Elastin microfibril interfacer 2) (Protein FOAP-10)

sequence:

opentargets:
collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular matrix constituent conferring elasticity [GO:0030023]; cell adhesion [GO:0007155]; positive regulation of cell-substrate adhesion [GO:0010811]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Note=Found mainly at the interface between amorphous elastin and microfibrils.


uniprotID: Q04741
geneSymbol: EMX1
name: Homeobox protein EMX1 (Empty spiracles homolog 1) (Empty spiracles-like protein 1)
length: 257
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; brain morphogenesis [GO:0048854]; cerebral cortex neuron differentiation [GO:0021895]; cerebral cortex regionalization [GO:0021796]; homeostasis of number of cells [GO:0048872]; in utero embryonic development [GO:0001701]; neuroepithelial cell differentiation [GO:0060563]; neuron projection extension [GO:1990138]; post-embryonic development [GO:0009791]; radial glial cell differentiation [GO:0060019]; regulation of oligodendrocyte progenitor proliferation [GO:0070445]; response to drug [GO:0042493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q04741-1; Sequence=Displayed; Name=2; IsoId=Q04741-2; Sequence=VSP_022145, VSP_022146; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:20887964}. Cytoplasm {ECO:0000269|PubMed:20887964}. Note=Might be shuttling between the nucleus and the cytoplasm.


uniprotID: Q902F9
geneSymbol: HERVK_113
length: 699
name:
Endogenous retrovirus group K member 113 Env polyprotein (EnvK5 protein) (Envelope polyprotein) (HERV-K113 envelope protein) (HERV-K_19p13.11 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:

location:
SUBCELLULAR LOCATION: Transmembrane protein: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Surface protein: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=The surface protein is not anchored to the membrane, but localizes to the extracellular surface through its binding to TM. {ECO:0000250}.; SUBCELLULAR LOCATION: Endogenous retrovirus group K member 113 Env polyprotein: Virion {ECO:0000250}.


uniprotID: Q9H4I9
geneSymbol: SMDT1
reactome: R-HSA-8949215;R-HSA-8949664;
length: 107
go: ENSG00000183172;
snps: rs17852210
name:
Essential MCU regulator, mitochondrial (Single-pass membrane protein with aspartate-rich tail 1, mitochondrial)

sequence:
MASGAARWLVLAPVRSGALRSGPSLRKDGDVSAAWSGSGRSLVPSRSVIVTRSGAILPKPVKMSFGLLRVFSIVIPFLYVGTLISKNFAALLEEHDIFVPEDDDDDD

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; uniplex complex [GO:1990246]; calcium import into the mitochondrion [GO:0036444]; mitochondrial calcium ion homeostasis [GO:0051560]; mitochondrial calcium ion transmembrane transport [GO:0006851]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:24231807, ECO:0000269|PubMed:26774479, ECO:0000269|PubMed:27099988, ECO:0000269|PubMed:27642048}; Single-pass membrane protein {ECO:0000269|PubMed:24231807, ECO:0000269|PubMed:27099988}. Note=MAIP1 is required to assist sorting of EMRE/SMDT1 into mitochondrion by protecting EMRE/SMDT1 against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB) (PubMed:27642048). {ECO:0000269|PubMed:27642048}.


uniprotID: P54852
geneSymbol: EMP3
length: 163
go: ENSG00000142227;
snps: rs4893
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Epithelial membrane protein 3 (EMP-3) (Hematopoietic neural membrane protein 1) (HNMP-1) (Protein YMP)

sequence:
MSLLLLVVSALHILILILLFVATLDKSWWTLPGKESLNLWYDCTWNNDTKTWACSNVSENGWLKAVQVLMVLSLILCCLSFILFMFQLYTMRRGGLFYATGLCQLCTSVAVFTGALIYAIHAEEILEKHPRGGSFGYCFALAWVAFPLALVSGIIYIHLRKRE

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bleb assembly [GO:0032060]; cell death [GO:0008219]; negative regulation of cell proliferation [GO:0008285]


uniprotID: Q7Z589
geneSymbol: EMSY
pdb: 1UTU;1UZ3;2FMM;
name: BRCA2-interacting transcriptional repressor EMSY
length: 1322
go: ENSG00000158636;
sequence:

opentargets:
nucleoplasm [GO:0005654]; protein homodimerization activity [GO:0042803]; chromatin organization [GO:0006325]; DNA repair [GO:0006281]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q7Z589-1; Sequence=Displayed; Name=2; IsoId=Q7Z589-2; Sequence=VSP_010431; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z589-3; Sequence=VSP_020774, VSP_020775; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z589-4; Sequence=VSP_054139, VSP_054140, VSP_054143; Note=No experimental confirmation available.; Name=5; IsoId=Q7Z589-5; Sequence=VSP_054140; Note=No experimental confirmation available.; Name=6; IsoId=Q7Z589-6; Sequence=VSP_054139, VSP_054141, VSP_054142; Note=No experimental confirmation available.; Name=7; IsoId=Q7Z589-7; Sequence=VSP_054139, VSP_054140; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14651845}. Note=Localizes to DNA damage markers in irradiated cells, suggesting that it participates in DNA repair process.


uniprotID: Q5D862
geneSymbol: FLG2
reactome: R-HSA-6798695;
length: 2391
go: ENSG00000143520;
name:
Filaggrin-2 (FLG-2) (Intermediate filament-associated and psoriasis-susceptibility protein) (Ifapsoriasin)

sequence:

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; keratohyalin granule [GO:0036457]; nucleus [GO:0005634]; tertiary granule lumen [GO:1904724]; calcium ion binding [GO:0005509]; structural constituent of epidermis [GO:0030280]; transition metal ion binding [GO:0046914]; establishment of skin barrier [GO:0061436]; neutrophil degranulation [GO:0043312]

snps:
rs3818831 rs2282304 rs6587667 rs2282303 rs2282302 rs16842865 rs79239476 rs12411129 rs16833974 rs1858484 rs12736606 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19384417}. Cytoplasmic granule {ECO:0000269|PubMed:19384417}. Note=In the stratum corneum of the epidermis, dispersed diffusely throughout the cytoplasm, while in the stratum granulosum, localized within keratohyalin granules (PubMed:19384417) (PubMed:21531719). In granular keratinocytes and in lower corneocytes, colocalizes with calpain-1/CAPN1. {ECO:0000269|PubMed:19384417, ECO:0000269|PubMed:21531719}.


uniprotID: O14972
geneSymbol: DSCR3
name: Down syndrome critical region protein 3 (Down syndrome critical region protein A)
length: 297
go: ENSG00000157538;
sequence:

opentargets:
endosome [GO:0005768]; nucleus [GO:0005634]; protein transporter activity [GO:0008565]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14972-1; Sequence=Displayed; Name=2; IsoId=O14972-2; Sequence=VSP_056598; Note=No experimental confirmation available.; 


uniprotID: P42126
geneSymbol: ECI1
reactome: R-HSA-77288;
pdb: 1SG4;
length: 302
go: ENSG00000167969;
drug: DB03127;DB02910;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Enoyl-CoA delta isomerase 1, mitochondrial (EC 5.3.3.8) (3,2-trans-enoyl-CoA isomerase) (Delta(3),Delta(2)-enoyl-CoA isomerase) (D3,D2-enoyl-CoA isomerase) (Dodecenoyl-CoA isomerase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; dodecenoyl-CoA delta-isomerase activity [GO:0004165]; enoyl-CoA hydratase activity [GO:0004300]; intramolecular oxidoreductase activity [GO:0016860]; fatty acid beta-oxidation [GO:0006635]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P42126-1; Sequence=Displayed; Name=2; IsoId=P42126-2; Sequence=VSP_001358; Note=No experimental confirmation available.; 


uniprotID: Q92838
geneSymbol: EDA
reactome: R-HSA-5669034;
pdb: 1RJ7;1RJ8;
length: 391
go: ENSG00000158813;
name:
Ectodysplasin-A (Ectodermal dysplasia protein) (EDA protein) [Cleaved into: Ectodysplasin-A, membrane form; Ectodysplasin-A, secreted form]

sequence:

opentargets:
apical part of cell [GO:0045177]; collagen trimer [GO:0005581]; cytoskeleton [GO:0005856]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; lipid droplet [GO:0005811]; membrane [GO:0016020]; plasma membrane [GO:0005886]; death receptor agonist activity [GO:0038177]; death receptor binding [GO:0005123]; signaling receptor binding [GO:0005102]; tumor necrosis factor receptor binding [GO:0005164]; cell differentiation [GO:0030154]; cell-matrix adhesion [GO:0007160]; cytokine-mediated signaling pathway [GO:0019221]; gene expression [GO:0010467]; hair follicle placode formation [GO:0060789]; immune response [GO:0006955]; odontogenesis of dentin-containing tooth [GO:0042475]; pigmentation [GO:0043473]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of gene expression [GO:0010628]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; regulation of NIK/NF-kappaB signaling [GO:1901222]; salivary gland cavitation [GO:0060662]; trachea gland development [GO:0061153]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

snps:
rs132630308 rs132630311 rs132630319 rs132630309 rs397516662 rs140642493 rs132630312 rs132630313 rs132630314 rs727504649 rs132630315 rs132630316 rs879255552 rs1064793105 rs879255611 rs879255551 rs397516677 rs397516679 rs142948132 rs132630321 rs132630317 rs876657639 rs61747506 rs132630320 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=A1, II, EDA1 {ECO:0000303|PubMed:27144394}; IsoId=Q92838-1; Sequence=Displayed; Name=2; Synonyms=I; IsoId=Q92838-2; Sequence=VSP_006454, VSP_006455; Name=3; Synonyms=A2, EDA2 {ECO:0000303|PubMed:27144394}; IsoId=Q92838-3; Sequence=VSP_006464; Name=4; Synonyms=C; IsoId=Q92838-5; Sequence=VSP_006458, VSP_006461; Name=5; Synonyms=D; IsoId=Q92838-6; Sequence=VSP_006456, VSP_006457; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; Synonyms=E; IsoId=Q92838-7; Sequence=VSP_006459, VSP_006461; Name=7; Synonyms=F; IsoId=Q92838-8; Sequence=VSP_006460, VSP_006461; Name=8; IsoId=Q92838-9; Sequence=VSP_038402, VSP_006464; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O54693}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:O54693}.; SUBCELLULAR LOCATION: Ectodysplasin-A, secreted form: Secreted {ECO:0000269|PubMed:11309369}.


uniprotID: Q6ZNL6
geneSymbol: FGD5
pdb: 3MPX;
name: FYVE, RhoGEF and PH domain-containing protein 5 (Zinc finger FYVE domain-containing protein 23)
length: 1462
go: ENSG00000154783;
snps: rs7636593 rs17038795 rs2307092
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; ruffle [GO:0001726]; ruffle membrane [GO:0032587]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; small GTPase binding [GO:0031267]; actin cytoskeleton organization [GO:0030036]; cytoskeleton organization [GO:0007010]; filopodium assembly [GO:0046847]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZNL6-1; Sequence=Displayed; Name=2; IsoId=Q6ZNL6-2; Sequence=VSP_013088; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:22328776}. Cell projection, ruffle membrane {ECO:0000269|PubMed:22328776}. Endoplasmic reticulum {ECO:0000269|PubMed:22328776}. Golgi apparatus {ECO:0000269|PubMed:22328776}. Early endosome {ECO:0000269|PubMed:22328776}. Note=In peripheral membrane ruffles, colocolizes with F-actin. In confluent HUVECs, detected at cell-cell-contact sites where it colocalizes with vascular endothelial cadherin/CDH5.


uniprotID: Q6ZV73
geneSymbol: FGD6
name: FYVE, RhoGEF and PH domain-containing protein 6 (Zinc finger FYVE domain-containing protein 24)
length: 1430
go: ENSG00000180263;
snps: rs10507047 rs3794255
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; ruffle [GO:0001726]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; small GTPase binding [GO:0031267]; actin cytoskeleton organization [GO:0030036]; cytoskeleton organization [GO:0007010]; filopodium assembly [GO:0046847]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZV73-1; Sequence=Displayed; Name=2; IsoId=Q6ZV73-2; Sequence=VSP_013091, VSP_013092; Note=No experimental confirmation available.; 


uniprotID: P61328
geneSymbol: FGF12
reactome: R-HSA-5576892;
pdb: 1Q1U;4JQ0;
length: 243
go: ENSG00000114279;
snps: rs886039903
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Fibroblast growth factor 12 (FGF-12) (Fibroblast growth factor homologous factor 1) (FHF-1) (Myocyte-activating factor)

sequence:

opentargets:
extracellular space [GO:0005615]; intracellular [GO:0005622]; nucleus [GO:0005634]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; ion channel binding [GO:0044325]; sodium channel regulator activity [GO:0017080]; adult locomotory behavior [GO:0008344]; cardiac muscle cell action potential involved in contraction [GO:0086002]; cell-cell signaling [GO:0007267]; chemical synaptic transmission [GO:0007268]; fibroblast growth factor receptor signaling pathway [GO:0008543]; heart development [GO:0007507]; JNK cascade [GO:0007254]; negative regulation of cation channel activity [GO:2001258]; nervous system development [GO:0007399]; neuromuscular process [GO:0050905]; positive regulation of sodium ion transport [GO:0010765]; regulation of membrane depolarization [GO:0003254]; regulation of neuronal action potential [GO:0098908]; regulation of sodium ion transmembrane transport [GO:1902305]; regulation of sodium ion transmembrane transporter activity [GO:2000649]; regulation of voltage-gated sodium channel activity [GO:1905150]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=FGF-12A; IsoId=P61328-1; Sequence=Displayed; Name=2; Synonyms=FGF-12B; IsoId=P61328-2; Sequence=VSP_010222; 


uniprotID: Q92913
geneSymbol: FGF13
reactome: R-HSA-5576892;
pdb: 3HBW;4DCK;4JPZ;
name: Fibroblast growth factor 13 (FGF-13) (Fibroblast growth factor homologous factor 2) (FHF-2)
length: 245
go: ENSG00000129682;
snps: rs17510270
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular region [GO:0005576]; filopodium [GO:0030175]; growth cone [GO:0030426]; intercalated disc [GO:0014704]; lateral plasma membrane [GO:0016328]; microtubule [GO:0005874]; neuron projection [GO:0043005]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; beta-tubulin binding [GO:0048487]; growth factor activity [GO:0008083]; ion channel binding [GO:0044325]; microtubule binding [GO:0008017]; protein kinase activator activity [GO:0030295]; sodium channel regulator activity [GO:0017080]; cell-cell signaling [GO:0007267]; cerebral cortex cell migration [GO:0021795]; establishment of neuroblast polarity [GO:0045200]; hippocampus development [GO:0021766]; learning [GO:0007612]; MAPK cascade [GO:0000165]; memory [GO:0007613]; microtubule polymerization [GO:0046785]; negative regulation of collateral sprouting [GO:0048671]; negative regulation of microtubule depolymerization [GO:0007026]; nervous system development [GO:0007399]; neuron migration [GO:0001764]; protein localization to plasma membrane [GO:0072659]; regulation of cardiac muscle cell action potential involved in regulation of contraction [GO:0098909]; signal transduction [GO:0007165]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=FGF13A, 1A, hFHF-2(1S), FGF13S; IsoId=Q92913-1; Sequence=Displayed; Name=2; Synonyms=FGF13B, 1B, hFHF-2(1U), FGF13U; IsoId=Q92913-2; Sequence=VSP_001529; Name=3; Synonyms=hFHF-2(1Y+1V), FGF13YV; IsoId=Q92913-3; Sequence=VSP_043461; Name=4; Synonyms=hFHF-2(1Z+1Y), FGF13V; IsoId=Q92913-4; Sequence=VSP_043460; Name=5; Synonyms=hFHF-2(1X+1W+1V), FGF13Y; IsoId=Q92913-5; Sequence=VSP_044129; 

location:
SUBCELLULAR LOCATION: Cell projection, filopodium {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Nucleus {ECO:0000269|PubMed:10644718}. Cytoplasm {ECO:0000269|PubMed:10644718}. Note=Not secreted. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus.


uniprotID: Q8TAT2
geneSymbol: FGFBP3
reactome: R-HSA-190377;
name: Fibroblast growth factor-binding protein 3 (FGF-BP3) (FGF-binding protein 3) (FGFBP-3)
length: 258
go: ENSG00000174721;
snps: rs10881994 rs1107947
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:18669637}.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; fibroblast growth factor binding [GO:0017134]; heparin binding [GO:0008201]; cell-cell signaling [GO:0007267]; positive regulation of fibroblast growth factor receptor signaling pathway [GO:0045743]; positive regulation of vascular permeability [GO:0043117]


uniprotID: P01133
geneSymbol: EGF
pdb: 1IVO;1JL9;1NQL;1P9J;2KV4;3NJP;
name: Pro-epidermal growth factor (EGF) [Cleaved into: Epidermal growth factor (Urogastrone)]
length: 1207
go: ENSG00000138798;
drug: DB04454;DB00364;DB05007;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
reactome:
R-HSA-114608;R-HSA-1227986;R-HSA-1236382;R-HSA-1236394;R-HSA-1250196;R-HSA-1251932;R-HSA-1257604;R-HSA-177929;R-HSA-179812;R-HSA-180292;R-HSA-180336;R-HSA-182971;R-HSA-1963640;R-HSA-1963642;R-HSA-212718;R-HSA-2219530;R-HSA-5637810;R-HSA-5638303;R-HSA-5673001;R-HSA-6785631;R-HSA-6811558;R-HSA-8847993;R-HSA-8856825;R-HSA-8856828;R-HSA-8863795;R-HSA-9013507;

sequence:

opentargets:
clathrin-coated vesicle membrane [GO:0030665]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; platelet alpha granule lumen [GO:0031093]; receptor complex [GO:0043235]; calcium ion binding [GO:0005509]; epidermal growth factor receptor binding [GO:0005154]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; transmembrane receptor protein tyrosine kinase activator activity [GO:0030297]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; activation of MAPK activity [GO:0000187]; activation of MAPKK activity [GO:0000186]; angiogenesis [GO:0001525]; branching morphogenesis of an epithelial tube [GO:0048754]; canonical Wnt signaling pathway [GO:0060070]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; ERK1 and ERK2 cascade [GO:0070371]; mammary gland alveolus development [GO:0060749]; MAPK cascade [GO:0000165]; membrane organization [GO:0061024]; negative regulation of cholesterol efflux [GO:0090370]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of ERBB signaling pathway [GO:1901185]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of secretion [GO:0051048]; platelet degranulation [GO:0002576]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cerebellar granule cell precursor proliferation [GO:0021940]; positive regulation of DNA binding [GO:0043388]; positive regulation of epidermal growth factor-activated receptor activity [GO:0045741]; positive regulation of gene expression [GO:0010628]; positive regulation of hyaluronan biosynthetic process [GO:1900127]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of phosphorylation [GO:0042327]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of receptor internalization [GO:0002092]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of ubiquitin-dependent protein catabolic process [GO:2000060]; regulation of calcium ion import [GO:0090279]; regulation of cell motility [GO:2000145]; regulation of JAK-STAT cascade [GO:0046425]; regulation of protein localization to cell surface [GO:2000008]; signal transduction [GO:0007165]

snps:
rs11568849 rs9991664 rs11568911 rs35191533 rs11568943 rs11568992 rs2237051 rs6413481 rs11569017 rs11569046 rs4698803 rs11569086 rs11569098 rs121434567 rs11569111 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P01133-1; Sequence=Displayed; Name=2; IsoId=P01133-2; Sequence=VSP_041586; Name=3; IsoId=P01133-3; Sequence=VSP_047190; Note=No experimental confirmation available. Gene prediction based on cDNA data.; 


uniprotID: Q9Y6B2
geneSymbol: EID1
length: 187
go: ENSG00000255302;
name:
EP300-interacting inhibitor of differentiation 1 (21 kDa pRb-associated protein) (CREBBP/EP300 inhibitory protein 1) (E1A-like inhibitor of differentiation 1) (EID-1)

sequence:
MSEMAELSELYEESSDLQMDVMPGEGDLPQMEVGSGSRELSLRPSRSGAQQLEEEGPMEEEEAQPMAAPEGKRSLANGPNAGEQPGQVAGADFESEDEGEEFDDWEDDYDYPEEEQLSGAGYRVSAALEEADKMFLRTREPALDGGFQMHYEKTPFDQLAFIEELFSLMVVNRLTEELGCDEIIDRE

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone acetyltransferase binding [GO:0035035]; histone acetyltransferase regulator activity [GO:0035034]; transcription corepressor activity [GO:0003714]; cell cycle [GO:0007049]; cell differentiation [GO:0030154]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of cell differentiation [GO:0045595]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:11073990, ECO:0000269|PubMed:11223246, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}; IsoId=Q9Y6B2-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14702039}; IsoId=Q9Y6B2-2; Sequence=VSP_052454; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11223246}. Cytoplasm {ECO:0000269|PubMed:11223246}. Note=May shuttle between nucleus and cytoplasm. {ECO:0000250|UniProtKB:Q9DCR4, ECO:0000269|PubMed:11223246}.


uniprotID: P22607
geneSymbol: FGFR3
pdb: 1RY7;2LZL;4K33;
name: Fibroblast growth factor receptor 3 (FGFR-3) (EC 2.7.10.1) (CD antigen CD333)
length: 806
go: ENSG00000068078;
drug: DB09078;DB09079;DB00039;DB06589;DB08901;DB05014;
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839130;R-HSA-190371;R-HSA-190372;R-HSA-2033514;R-HSA-2033515;R-HSA-2219530;R-HSA-5654227;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654732;R-HSA-5673001;R-HSA-6811558;R-HSA-8853334;R-HSA-8853338;

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; transport vesicle [GO:0030133]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; ATP binding [GO:0005524]; fibroblast growth factor binding [GO:0017134]; fibroblast growth factor-activated receptor activity [GO:0005007]; identical protein binding [GO:0042802]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; bone maturation [GO:0070977]; bone mineralization [GO:0030282]; bone morphogenesis [GO:0060349]; cell differentiation [GO:0030154]; cell-cell signaling [GO:0007267]; chondrocyte differentiation [GO:0002062]; chondrocyte proliferation [GO:0035988]; endochondral bone growth [GO:0003416]; endochondral ossification [GO:0001958]; fibroblast growth factor receptor apoptotic signaling pathway [GO:1902178]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; negative regulation of developmental growth [GO:0048640]; negative regulation of signal transduction [GO:0009968]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of phospholipase activity [GO:0010518]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; protein autophosphorylation [GO:0046777]; skeletal system development [GO:0001501]

snps:
rs2305178 rs121913482 rs121913483 rs4647924 rs121913111 rs121913479 rs121913484 rs121913485 rs75790268 rs28931614 rs17881656 rs28931615 rs17884368 rs121913112 rs80053154 rs28933068 rs77722678 rs77722678 rs121913113 rs78311289 rs121913105 rs78311289 rs17882190 rs17880763 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=IIIc; IsoId=P22607-1; Sequence=Displayed; Name=2; Synonyms=IIIb; IsoId=P22607-2; Sequence=VSP_002988; Name=3; Synonyms=FGFR3deltaTM; IsoId=P22607-3; Sequence=VSP_002989; Name=4; IsoId=P22607-4; Sequence=VSP_040945; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle. Endoplasmic reticulum. Note=The activated receptor is rapidly internalized and degraded. Detected in intracellular vesicles after internalization of the autophosphorylated receptor.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 3: Secreted.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: P55884
geneSymbol: EIF3B
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 2KRB;2NLW;5K1H;
length: 814
go: ENSG00000106263;
snps: rs9690787 rs1063257
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03001}.
name:
Eukaryotic translation initiation factor 3 subunit B (eIF3b) (Eukaryotic translation initiation factor 3 subunit 9) (Prt1 homolog) (hPrt1) (eIF-3-eta) (eIF3 p110) (eIF3 p116)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; eukaryotic translation initiation factor 3 complex, eIF3m [GO:0071541]; extracellular exosome [GO:0070062]; synapse [GO:0045202]; protein-containing complex scaffold activity [GO:0032947]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; translation initiation factor binding [GO:0031369]; formation of cytoplasmic translation initiation complex [GO:0001732]; IRES-dependent viral translational initiation [GO:0075522]; regulation of translational initiation [GO:0006446]; translational initiation [GO:0006413]; viral translational termination-reinitiation [GO:0075525]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55884-1; Sequence=Displayed; Name=2; IsoId=P55884-2; Sequence=VSP_017274; 


uniprotID: O15371
geneSymbol: EIF3D
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
length: 548
go: ENSG00000100353;
snps: rs745920273
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03003}.
name:
Eukaryotic translation initiation factor 3 subunit D (eIF3d) (Eukaryotic translation initiation factor 3 subunit 7) (eIF-3-zeta) (eIF3 p66)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; eukaryotic translation initiation factor 3 complex, eIF3m [GO:0071541]; membrane [GO:0016020]; mRNA cap binding [GO:0098808]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; cap-dependent translational initiation [GO:0002191]; formation of cytoplasmic translation initiation complex [GO:0001732]; IRES-dependent viral translational initiation [GO:0075522]; positive regulation of mRNA binding [GO:1902416]; positive regulation of translation [GO:0045727]; translational initiation [GO:0006413]; viral translational termination-reinitiation [GO:0075525]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15371-1; Sequence=Displayed; Name=2; IsoId=O15371-2; Sequence=VSP_055473; Note=No experimental confirmation available.; Name=3; IsoId=O15371-3; Sequence=VSP_055474; Note=No experimental confirmation available.; 


uniprotID: Q9NVK5
geneSymbol: FGFR1OP2
reactome: R-HSA-1839117;R-HSA-5655302;
name: FGFR1 oncogene partner 2
length: 253
go: ENSG00000111790;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; protein homodimerization activity [GO:0042803]; protein tyrosine kinase activity [GO:0004713]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NVK5-1; Sequence=Displayed; Name=2; IsoId=Q9NVK5-2; Sequence=VSP_027538; Name=3; IsoId=Q9NVK5-3; Sequence=VSP_027539, VSP_027540; Note=No experimental confirmation available.; 


uniprotID: Q9Y262
geneSymbol: EIF3L
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 3J8B;3J8C;6FEC;
length: 564
go: ENSG00000100129;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03011}.
name:
Eukaryotic translation initiation factor 3 subunit L (eIF3l) (Eukaryotic translation initiation factor 3 subunit 6-interacting protein) (Eukaryotic translation initiation factor 3 subunit E-interacting protein)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; fibrillar center [GO:0001650]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; formation of cytoplasmic translation initiation complex [GO:0001732]; translational initiation [GO:0006413]; viral translational termination-reinitiation [GO:0075525]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y262-1; Sequence=Displayed; Name=2; IsoId=Q9Y262-2; Sequence=VSP_045881; Note=No experimental confirmation available.; 


uniprotID: Q53HC9
geneSymbol: EIPR1
length: 387
go: ENSG00000032389;
opentargets: Golgi apparatus [GO:0005794]; protein ubiquitination [GO:0016567]
location: SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:27440922}.
name:
EARP and GARP complex-interacting protein 1 (Endosome-associated recycling protein-interacting protein) (Golgi-associated retrograde protein-interacting protein) (Tumor-suppressing STF cDNA 1 protein) (Tumor-suppressing subchromosomal transferable fragment candidate gene 1 protein)

sequence:


uniprotID: P19957
geneSymbol: PI3
reactome: R-HSA-6803157;R-HSA-6809371;
pdb: 1FLE;2REL;6ATU;
length: 117
go: ENSG00000124102;
snps: rs17333103 rs2664581
location: SUBCELLULAR LOCATION: Secreted.
name:
Elafin (Elastase-specific inhibitor) (ESI) (Peptidase inhibitor 3) (PI-3) (Protease inhibitor WAP3) (Skin-derived antileukoproteinase) (SKALP) (WAP four-disulfide core domain protein 14)

sequence:
MRASSFLIVVVFLIAGTLVLEAAVTGVPVKGQDTVKGRVPFNGQDPVKGQVSVKGQDKVKAQEPVKGPVSTKPGSCPIILIRCAMLNPPNRCLKDTDCPGIKKCCEGSCGMACFVPQ

opentargets:
cornified envelope [GO:0001533]; cytosol [GO:0005829]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase inhibitor activity [GO:0004867]; structural constituent of epidermis [GO:0030280]; antimicrobial humoral response [GO:0019730]; copulation [GO:0007620]; cornification [GO:0070268]; peptide cross-linking [GO:0018149]


uniprotID: P32519
geneSymbol: ELF1
reactome: R-HSA-8939245;R-HSA-8939247;
name: ETS-related transcription factor Elf-1 (E74-like factor 1)
length: 619
go: ENSG00000120690;
snps: rs7799 rs1056820 rs7323148
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cell differentiation [GO:0030154]; negative regulation of T cell receptor signaling pathway [GO:0050860]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of B cell receptor signaling pathway [GO:0050855]; regulation of cytokine production [GO:0001817]; regulation of cytokine-mediated signaling pathway [GO:0001959]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P32519-1; Sequence=Displayed; Name=2; IsoId=P32519-2; Sequence=VSP_045682; Note=No experimental confirmation available.; 


uniprotID: P02675
geneSymbol: FGB
name: Fibrinogen beta chain [Cleaved into: Fibrinopeptide B; Fibrinogen beta chain]
length: 491
go: ENSG00000171564;
drug: DB04919;DB00364;
reactome:
R-HSA-114608;R-HSA-140875;R-HSA-216083;R-HSA-354192;R-HSA-354194;R-HSA-372708;R-HSA-5674135;R-HSA-5686938;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

pdb:
1FZA;1FZB;1FZC;1FZE;1FZF;1FZG;1LT9;1LTJ;1N86;1N8E;1RE3;1RE4;1RF0;1RF1;2A45;2FFD;2H43;2HLO;2HOD;2HPC;2OYH;2OYI;2Q9I;2XNX;2XNY;2Z4E;3BVH;3E1I;3GHG;3H32;3HUS;6ATZ;6BIJ;6BIL;

sequence:

opentargets:
blood microparticle [GO:0072562]; cell cortex [GO:0005938]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum [GO:0005783]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; fibrinogen complex [GO:0005577]; plasma membrane [GO:0005886]; platelet alpha granule [GO:0031091]; platelet alpha granule lumen [GO:0031093]; synapse [GO:0045202]; chaperone binding [GO:0051087]; extracellular matrix structural constituent [GO:0005201]; signaling receptor binding [GO:0005102]; structural molecule activity [GO:0005198]; adaptive immune response [GO:0002250]; blood coagulation [GO:0007596]; blood coagulation, fibrin clot formation [GO:0072378]; cell-matrix adhesion [GO:0007160]; cellular protein-containing complex assembly [GO:0034622]; cellular response to interleukin-1 [GO:0071347]; cellular response to leptin stimulus [GO:0044320]; extracellular matrix organization [GO:0030198]; fibrinolysis [GO:0042730]; induction of bacterial agglutination [GO:0043152]; innate immune response [GO:0045087]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; plasminogen activation [GO:0031639]; platelet aggregation [GO:0070527]; platelet degranulation [GO:0002576]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of exocytosis [GO:0045921]; positive regulation of heterotypic cell-cell adhesion [GO:0034116]; positive regulation of peptide hormone secretion [GO:0090277]; positive regulation of protein secretion [GO:0050714]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; positive regulation of vasoconstriction [GO:0045907]; protein polymerization [GO:0051258]; response to calcium ion [GO:0051592]; toll-like receptor signaling pathway [GO:0002224]

snps:
rs6053 rs121909616 rs121909619 rs121909620 rs2227434 rs2227409 rs121909623 rs121909624 rs6054 rs121909617 rs121909621 rs121909622 rs4220 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10074346, ECO:0000269|PubMed:19296670, ECO:0000269|PubMed:9628725}.


uniprotID: Q9NVF9
geneSymbol: ETNK2
reactome: R-HSA-1483213;
name: Ethanolamine kinase 2 (EKI 2) (EC 2.7.1.82) (Ethanolamine kinase-like protein)
length: 386
go: ENSG00000143845;
snps: rs3737657
sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; ethanolamine kinase activity [GO:0004305]; in utero embryonic development [GO:0001701]; multicellular organism growth [GO:0035264]; phosphatidylethanolamine biosynthetic process [GO:0006646]; placenta development [GO:0001890]; post-embryonic development [GO:0009791]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NVF9-1; Sequence=Displayed; Name=2; IsoId=Q9NVF9-2; Sequence=VSP_039098; Name=3; IsoId=Q9NVF9-3; Sequence=VSP_039558; Note=No experimental confirmation available.; 


uniprotID: Q96BJ8
geneSymbol: ELMO3
name: Engulfment and cell motility protein 3
length: 720
go: ENSG00000102890;
snps: rs12923138 rs8058861 rs33948247
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; SH3 domain binding [GO:0017124]; apoptotic process [GO:0006915]; cell migration [GO:0016477]; phagocytosis [GO:0006909]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=Q96BJ8-1; Sequence=Displayed; Name=1; IsoId=Q96BJ8-2; Sequence=VSP_037341; Name=3; IsoId=Q96BJ8-3; Sequence=VSP_037342; 


uniprotID: P26378
geneSymbol: ELAVL4
pdb: 1FXL;1G2E;
name: ELAV-like protein 4 (Hu-antigen D) (HuD) (Paraneoplastic encephalomyelitis antigen HuD)
length: 380
go: ENSG00000162374;
snps: rs17853533 rs2494876 rs17853531
sequence:

opentargets:
AU-rich element binding [GO:0017091]; mRNA 3'-UTR binding [GO:0003730]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=HUD1PRO; IsoId=P26378-1; Sequence=Displayed; Name=2; Synonyms=HUD1; IsoId=P26378-2; Sequence=VSP_005791; Name=3; Synonyms=HUD4; IsoId=P26378-3; Sequence=VSP_014150, VSP_005791; Name=4; Synonyms=HUD3; IsoId=P26378-4; Sequence=VSP_037608, VSP_005791; Name=5; IsoId=P26378-5; Sequence=VSP_043450, VSP_005791; Note=No experimental confirmation available.; 


uniprotID: P28324
geneSymbol: ELK4
pdb: 1BC7;1BC8;1HBX;1K6O;
length: 431
go: ENSG00000158711;
location: SUBCELLULAR LOCATION: Nucleus.
name:
ETS domain-containing protein Elk-4 (Serum response factor accessory protein 1) (SAP-1) (SRF accessory protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; core promoter binding [GO:0001047]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coregulator activity [GO:0003712]; cell differentiation [GO:0030154]; histone H3 deacetylation [GO:0070932]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=SAP-1A; IsoId=P28324-1; Sequence=Displayed; Name=2; Synonyms=SAP-1B; IsoId=P28324-2; Sequence=VSP_001468; 


