# annotation

uniprotID: Q8N7K0
geneSymbol: ZNF433
reactome: R-HSA-212436;
name: Zinc finger protein 433
length: 673
go: ENSG00000197647;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N7K0-1; Sequence=Displayed; Name=2; IsoId=Q8N7K0-2; Sequence=VSP_035523; 


uniprotID: Q9BR84
geneSymbol: ZNF559
reactome: R-HSA-212436;
name: Zinc finger protein 559
length: 538
go: ENSG00000188321;
snps: rs16979670
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BR84-1; Sequence=Displayed; Name=2; IsoId=Q9BR84-2; Sequence=VSP_047039, VSP_047040; Note=No experimental confirmation available.; 


uniprotID: P21754
geneSymbol: ZP3
reactome: R-HSA-1300644;
length: 424
go: ENSG00000188372;
snps: rs2286428 rs2906999 rs2906997
name:
Zona pellucida sperm-binding protein 3 (Sperm receptor) (ZP3A/ZP3B) (Zona pellucida glycoprotein 3) (Zp-3) (Zona pellucida protein C) [Cleaved into: Processed zona pellucida sperm-binding protein 3]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; acrosin binding [GO:0032190]; carbohydrate binding [GO:0030246]; extracellular matrix structural constituent [GO:0005201]; identical protein binding [GO:0042802]; receptor ligand activity [GO:0048018]; binding of sperm to zona pellucida [GO:0007339]; blastocyst formation [GO:0001825]; egg coat formation [GO:0035803]; humoral immune response mediated by circulating immunoglobulin [GO:0002455]; negative regulation of binding of sperm to zona pellucida [GO:2000360]; negative regulation of transcription, DNA-templated [GO:0045892]; oocyte development [GO:0048599]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of acrosomal vesicle exocytosis [GO:2000368]; positive regulation of acrosome reaction [GO:2000344]; positive regulation of antral ovarian follicle growth [GO:2000388]; positive regulation of humoral immune response [GO:0002922]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of leukocyte migration [GO:0002687]; positive regulation of ovarian follicle development [GO:2000386]; positive regulation of phosphatidylinositol biosynthetic process [GO:0010513]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of type IV hypersensitivity [GO:0001809]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=ZP3A; IsoId=P21754-1; Sequence=Displayed; Name=ZP3B; IsoId=P21754-2; Sequence=VSP_006949, VSP_006950; Note=Found in a second polymorphic locus which, due to an extra G residue in exon 8, has the potential to encode a truncated protein of 372 amino acids.; Name=3; IsoId=P21754-3; Sequence=VSP_037556; 

location:
SUBCELLULAR LOCATION: Processed zona pellucida sperm-binding protein 3: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:P48833}. Note=The glycoproteinaceous translucent extracellular matrix that surrounds the mammalian oocyte is called zona pellucida. {ECO:0000305}.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P48833}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: Q9UQR1
geneSymbol: ZNF148
name: Zinc finger protein 148 (Transcription factor ZBP-89) (Zinc finger DNA-binding protein 89)
length: 794
go: ENSG00000163848;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; cellular defense response [GO:0006968]; gamete generation [GO:0007276]; negative regulation of gene expression [GO:0010629]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein-containing complex assembly [GO:0065003]; substantia nigra development [GO:0021762]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UQR1-1; Sequence=Displayed; Name=2; IsoId=Q9UQR1-2; Sequence=VSP_055938, VSP_055939; Note=No experimental confirmation available.; 


uniprotID: Q9NU63
geneSymbol: ZFP57
name: Zinc finger protein 57 homolog (Zfp-57) (Zinc finger protein 698)
length: 452
go: ENSG00000204644;
snps: rs9461544 rs199589695 rs78378398 rs2535241 rs79020217
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; DNA methylation involved in embryo development [GO:0043045]; regulation of gene expression by genetic imprinting [GO:0006349]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NU63-1; Sequence=Displayed; Name=2; IsoId=Q9NU63-2; Sequence=VSP_026329, VSP_026330; Name=3; IsoId=Q9NU63-3; Sequence=VSP_036659, VSP_026330; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Binds various differentially methylated regions (DMR), including the SNRPN DMR. {ECO:0000250}.


uniprotID: Q6NSZ9
geneSymbol: ZSCAN25
reactome: R-HSA-212436;
name: Zinc finger and SCAN domain-containing protein 25 (Zinc finger protein 498)
length: 544
go: ENSG00000197037;
snps: rs10239632
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6NSZ9-1; Sequence=Displayed; Name=2; IsoId=Q6NSZ9-2; Sequence=VSP_029147; Name=3; IsoId=Q6NSZ9-3; Sequence=VSP_029145; Name=4; IsoId=Q6NSZ9-4; Sequence=VSP_029146; 


uniprotID: Q9UGR2
geneSymbol: ZC3H7B
length: 993
go: ENSG00000100403;
snps: rs9607793
name:
Zinc finger CCCH domain-containing protein 7B (Rotavirus 'X'-associated non-structural protein) (RoXaN)

sequence:

opentargets:
nucleus [GO:0005634]; metal ion binding [GO:0046872]; miRNA binding [GO:0035198]; RNA binding [GO:0003723]; posttranscriptional regulation of gene expression [GO:0010608]; production of miRNAs involved in gene silencing by miRNA [GO:0035196]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGR2-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9UGR2-2; Sequence=VSP_006552; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18799579}. Note=Nuclear localization seems to be depleted upon rotavirus A infection.


uniprotID: Q9HAH1
geneSymbol: ZNF556
reactome: R-HSA-212436;
name: Zinc finger protein 556
length: 456
go: ENSG00000172000;
snps: rs10421121 rs35499960 rs35296337 rs35494032
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q8N988
geneSymbol: ZNF557
reactome: R-HSA-212436;
name: Zinc finger protein 557
length: 423
go: ENSG00000130544;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N988-1; Sequence=Displayed; Name=2; IsoId=Q8N988-2; Sequence=VSP_014515; 


uniprotID: Q96NG5
geneSymbol: ZNF558
reactome: R-HSA-212436;
name: Zinc finger protein 558
length: 402
go: ENSG00000167785;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96NG5-1; Sequence=Displayed; Name=2; IsoId=Q96NG5-2; Sequence=VSP_055963; Note=No experimental confirmation available.; 


uniprotID: Q9H8X9
geneSymbol: ZDHHC11
length: 412
go: ENSG00000188818;
snps: rs2878468 rs1809008 rs3747738
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Probable palmitoyltransferase ZDHHC11 (EC 2.3.1.225) (Zinc finger DHHC domain-containing protein 11) (DHHC-11) (Zinc finger protein 399)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; protein-cysteine S-palmitoyltransferase activity [GO:0019706]; peptidyl-L-cysteine S-palmitoylation [GO:0018230]; protein targeting to membrane [GO:0006612]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H8X9-1; Sequence=Displayed; Name=2; IsoId=Q9H8X9-2; Sequence=VSP_055997, VSP_055998, VSP_055999; Note=No experimental confirmation available.; 


uniprotID: Q5VZL5
geneSymbol: ZMYM4
name: Zinc finger MYM-type protein 4 (Zinc finger protein 262)
length: 1548
go: ENSG00000146463;
snps: rs34924462 rs191217255
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; zinc ion binding [GO:0008270]; cytoskeleton organization [GO:0007010]; multicellular organism development [GO:0007275]; regulation of cell morphogenesis [GO:0022604]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5VZL5-1; Sequence=Displayed; Name=2; IsoId=Q5VZL5-2; Sequence=VSP_027514; Note=Gene prediction based on EST data.; Name=3; IsoId=Q5VZL5-3; Sequence=VSP_027512; Note=No experimental confirmation available.; Name=4; IsoId=Q5VZL5-4; Sequence=VSP_027513; Note=No experimental confirmation available.; 


uniprotID: Q96N20
geneSymbol: ZNF75A
reactome: R-HSA-212436;
name: Zinc finger protein 75A
length: 296
go: ENSG00000162086;
snps: rs17611866
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q9UL36
geneSymbol: ZNF236
name: Zinc finger protein 236
length: 1845
go: ENSG00000130856;
snps: rs2276211 rs608433 rs8093707 rs3794873 rs3752078
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; cellular response to glucose stimulus [GO:0071333]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=B; IsoId=Q9UL36-1; Sequence=Displayed; Name=A; IsoId=Q9UL36-2; Sequence=VSP_006907, VSP_006908; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: P51523
geneSymbol: ZNF84
name: Zinc finger protein 84 (Zinc finger protein HPF2)
length: 738
go: ENSG00000198040;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q8NDW4
geneSymbol: ZNF248
reactome: R-HSA-212436;
name: Zinc finger protein 248
length: 579
go: ENSG00000198105;
snps: rs11011379
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDW4-1; Sequence=Displayed; Name=2; IsoId=Q8NDW4-2; Sequence=VSP_045321; 


uniprotID: P15622
geneSymbol: ZNF250
reactome: R-HSA-212436;
name: Zinc finger protein 250 (Zinc finger protein 647)
length: 560
go: ENSG00000196150;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P15622-1; Sequence=Displayed; Name=2; IsoId=P15622-2; Sequence=VSP_011039, VSP_011040; Name=3; IsoId=P15622-3; Sequence=VSP_011039; Note=No experimental confirmation available.; 


uniprotID: Q5HY98
geneSymbol: ZNF766
name: Zinc finger protein 766
length: 468
go: ENSG00000196214;
snps: rs12462608
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q75MW2
geneSymbol: ZNF767P
reactome: R-HSA-212436;
name: Protein ZNF767 (Zinc finger protein 767 pseudogene)
length: 155
snps: rs1723718 rs1723719 rs1808231 rs354055
sequence:
MEEAAAAPISPWTMAATIQAMERKIESQAAHLLSLEGQTGMAEKKLADCEKTAVEFGNQLEGKWAVLGTLLQEYGLLQRRLENVENLLHNRNFWILRLPPGSKGESPKTTPSPSPRSSPRLNKGRSPATGAALTPRFQMFLWTPVQMQKLRPSRD

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q75MW2-1; Sequence=Displayed; Name=2; IsoId=Q75MW2-2; Sequence=VSP_023681; Note=No experimental confirmation available.; 


uniprotID: Q9UC07
geneSymbol: ZNF69
name: Zinc finger protein 69 (hZNF3)
length: 566
go: ENSG00000198429;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UC07-1; Sequence=Displayed; Name=2; IsoId=Q9UC07-2; Sequence=VSP_026927, VSP_026928; 


uniprotID: Q9NUA8
geneSymbol: ZBTB40
name: Zinc finger and BTB domain-containing protein 40
length: 1239
go: ENSG00000184677;
snps: rs6659222 rs36115661 rs209729 rs209720
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; bone mineralization [GO:0030282]; cellular response to DNA damage stimulus [GO:0006974]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NUA8-1; Sequence=Displayed; Name=2; IsoId=Q9NUA8-2; Sequence=VSP_007757, VSP_007758, VSP_007759; Note=No experimental confirmation available.; 


uniprotID: O95049
geneSymbol: TJP3
pdb: 3KFV;
length: 919
go: ENSG00000105289;
opentargets: bicellular tight junction [GO:0005923]; nucleus [GO:0005634]; plasma membrane [GO:0005886]
snps: rs1046268
name:
Tight junction protein ZO-3 (Tight junction protein 3) (Zona occludens protein 3) (Zonula occludens protein 3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=5; IsoId=O95049-1; Sequence=Displayed; Name=3; IsoId=O95049-3; Sequence=VSP_040238; Note=No experimental confirmation available.; Name=4; IsoId=O95049-4; Sequence=VSP_047022; Name=6; IsoId=O95049-5; Sequence=VSP_053844; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21411630}; Peripheral membrane protein {ECO:0000269|PubMed:21411630}; Cytoplasmic side {ECO:0000269|PubMed:21411630}. Cell junction, tight junction {ECO:0000269|PubMed:21411630, ECO:0000269|PubMed:23608536}. Nucleus {ECO:0000269|PubMed:23608536}. Note=Exhibits predominant nuclear expression in proliferating cells but is exclusively junctionally expressed after confluence is reached (PubMed:23608536). Shows an epithelial-specific tight junction localization in a TJP1/TJP2-dependent fashion (By similarity). {ECO:0000250|UniProtKB:Q9QXY1, ECO:0000269|PubMed:23608536}.


uniprotID: Q8IYB9
geneSymbol: ZNF595
reactome: R-HSA-212436;
name: Zinc finger protein 595
length: 648
go: ENSG00000272602;
snps: rs2006764
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q8N141
geneSymbol: ZFP82
name: Zinc finger protein 82 homolog (Zfp-82) (Zinc finger protein 545)
length: 532
go: ENSG00000181007;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q5T4F4
geneSymbol: ZFYVE27
pdb: 1X4U;
name: Protrudin (Spastic paraplegia 33 protein) (Zinc finger FYVE domain-containing protein 27)
length: 411
go: ENSG00000155256;
snps: rs17108378 rs10882993 rs35077384
sequence:

opentargets:
axon [GO:0030424]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum tubular network [GO:0071782]; growth cone membrane [GO:0032584]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; recycling endosome membrane [GO:0055038]; metal ion binding [GO:0046872]; protein self-association [GO:0043621]; endoplasmic reticulum tubular network formation [GO:0071787]; neuron projection development [GO:0031175]; neurotrophin TRK receptor signaling pathway [GO:0048011]; positive regulation of axon extension [GO:0045773]; protein localization to plasma membrane [GO:0072659]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q5T4F4-1; Sequence=Displayed; Name=2; IsoId=Q5T4F4-2; Sequence=VSP_019754; Name=3; IsoId=Q5T4F4-3; Sequence=VSP_019753; Name=4; IsoId=Q5T4F4-4; Sequence=VSP_019751, VSP_019753, VSP_019754, VSP_019755, VSP_019756; Name=5; IsoId=Q5T4F4-5; Sequence=VSP_019752, VSP_019754; Name=6; IsoId=Q5T4F4-6; Sequence=VSP_045266, VSP_019754; Note=No experimental confirmation available.; Name=7; IsoId=Q5T4F4-7; Sequence=VSP_045265, VSP_019753, VSP_019754; Note=No experimental confirmation available.; Name=8; IsoId=Q5T4F4-8; Sequence=VSP_046051, VSP_019754; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Recycling endosome membrane {ECO:0000250|UniProtKB:Q6P7B7}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:19289470, ECO:0000269|PubMed:23969831, ECO:0000269|PubMed:24668814}; Multi-pass membrane protein {ECO:0000269|PubMed:23969831}. Cell projection, growth cone membrane {ECO:0000250|UniProtKB:Q3TXX3}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes at both dendrites and axons (By similarity). Localizes to endoplasmic reticulum tubular network. {ECO:0000250|UniProtKB:Q3TXX3, ECO:0000269|PubMed:23969831, ECO:0000269|PubMed:24668814}.


uniprotID: Q9Y2H8
geneSymbol: ZNF510
reactome: R-HSA-212436;
name: Zinc finger protein 510
length: 683
go: ENSG00000081386;
snps: rs2289651 rs3780548 rs10217154 rs11999094 rs10217494 rs10119874
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q53FD0
geneSymbol: ZC2HC1C
name: Zinc finger C2HC domain-containing protein 1C
length: 456
go: ENSG00000119703;
opentargets: metal ion binding [GO:0046872]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53FD0-1; Sequence=Displayed; Name=2; IsoId=Q53FD0-2; Sequence=VSP_043105; 


uniprotID: Q96ME7
geneSymbol: ZNF512
pdb: 2CTD;
name: Zinc finger protein 512
length: 567
go: ENSG00000243943;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96ME7-1; Sequence=Displayed; Name=2; IsoId=Q96ME7-2; Sequence=VSP_046933; Name=3; IsoId=Q96ME7-3; Sequence=VSP_046934, VSP_046935; 


uniprotID: Q96IQ9
geneSymbol: ZNF414
name: Zinc finger protein 414
length: 312
go: ENSG00000133250;
snps: rs8100431 rs1064010
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IQ9-1; Sequence=Displayed; Name=2; IsoId=Q96IQ9-2; Sequence=VSP_045351; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O60384
geneSymbol: ZNF861P
name: Putative zinc finger protein 861
length: 105
opentargets: metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]
sequence:
MWLSTSPYRKGSQCGEAFSQIPGHNLNKKTPPGVKPPESHVCGEVGVGYPSTERHIRDRLGRKPCEYQECRQKAYTCKPCGNAFRFHHSFHIHERPHSGENLYEC


uniprotID: Q86Y25
geneSymbol: ZNF354C
reactome: R-HSA-212436;
name: Zinc finger protein 354C (Kidney, ischemia, and developmentally-regulated protein 3) (hKID3)
length: 554
go: ENSG00000177932;
snps: rs17855823 rs1445846 rs1445845
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15555547}.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear membrane [GO:0031965]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]


uniprotID: Q96IU2
geneSymbol: ZBED3
name: Zinc finger BED domain-containing protein 3 (Axin-interacting protein)
length: 234
go: ENSG00000132846;
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein stabilization [GO:0050821]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}. Note=Colocalizes with AXIN1 in the cytoplasm. {ECO:0000250}.


uniprotID: Q6S9Z5
geneSymbol: ZNF474
name: Zinc finger protein 474 (Testis-specific zinc finger protein) (TSZFP)
length: 364
go: ENSG00000164185;
opentargets: metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]
snps: rs2560306
sequence:


uniprotID: P21506
geneSymbol: ZNF10
reactome: R-HSA-212436;
name: Zinc finger protein 10 (Zinc finger protein KOX1)
length: 573
go: ENSG00000256223;
snps: rs11147259
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23665872}.
sequence:


uniprotID: Q3KP31
geneSymbol: ZNF791
reactome: R-HSA-212436;
name: Zinc finger protein 791
length: 576
go: ENSG00000173875;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3KP31-1; Sequence=Displayed; Name=2; IsoId=Q3KP31-2; Sequence=VSP_056674; Note=No experimental confirmation available.; 


uniprotID: Q96E35
geneSymbol: ZMYND19
length: 227
go: ENSG00000165724;
name:
Zinc finger MYND domain-containing protein 19 (Melanin-concentrating hormone receptor 1-interacting zinc finger protein) (MCH-R1-interacting zinc finger protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; synapse [GO:0045202]; metal ion binding [GO:0046872]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12208518}. Cell membrane {ECO:0000269|PubMed:12208518}; Peripheral membrane protein {ECO:0000269|PubMed:12208518}.


uniprotID: Q7L945
geneSymbol: ZNF627
reactome: R-HSA-212436;
name: Zinc finger protein 627
length: 461
go: ENSG00000198551;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q8N4W9
geneSymbol: ZNF808
name: Zinc finger protein 808
length: 903
snps: rs329964 rs329965
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4W9-1; Sequence=Displayed; Name=2; IsoId=Q8N4W9-2; Sequence=VSP_034946; 


uniprotID: Q8IWY8
geneSymbol: ZSCAN29
name: Zinc finger and SCAN domain-containing protein 29 (Zinc finger protein 690)
length: 852
go: ENSG00000140265;
snps: rs3809482 rs3917221
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IWY8-1; Sequence=Displayed; Name=2; IsoId=Q8IWY8-2; Sequence=VSP_018179; Note=No experimental confirmation available.; Name=3; IsoId=Q8IWY8-3; Sequence=VSP_018181, VSP_018182; Note=No experimental confirmation available.; Name=4; IsoId=Q8IWY8-4; Sequence=VSP_018180; Note=No experimental confirmation available.; 


uniprotID: Q8N895
geneSymbol: ZNF366
name: Zinc finger protein 366 (Dendritic cell-specific transcript protein) (DC-SCRIPT)
length: 744
go: ENSG00000178175;
snps: rs13188519
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16393996, ECO:0000269|PubMed:17085477}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; estrogen receptor binding [GO:0030331]; metal ion binding [GO:0046872]; transcription corepressor activity [GO:0003714]; negative regulation of intracellular estrogen receptor signaling pathway [GO:0033147]; negative regulation of transcription by RNA polymerase II [GO:0000122]; response to estrogen [GO:0043627]


uniprotID: Q8TC21
geneSymbol: ZNF596
reactome: R-HSA-212436;
name: Zinc finger protein 596
length: 504
go: ENSG00000172748;
snps: rs2074718 rs2072174
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TC21-1; Sequence=Displayed; Name=2; IsoId=Q8TC21-2; Sequence=VSP_019802; Note=No experimental confirmation available.; Name=3; IsoId=Q8TC21-3; Sequence=VSP_019801, VSP_019803, VSP_019804; Note=No experimental confirmation available.; 


uniprotID: O95789
geneSymbol: ZMYM6
length: 1325
go: ENSG00000163867;
snps: rs10158256 rs16837147
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Zinc finger MYM-type protein 6 (Transposon-derived Buster2 transposase-like protein) (Zinc finger protein 258)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; zinc ion binding [GO:0008270]; cytoskeleton organization [GO:0007010]; multicellular organism development [GO:0007275]; regulation of cell morphogenesis [GO:0022604]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=3; IsoId=O95789-3; Sequence=Displayed; Name=2; IsoId=O95789-2; Sequence=VSP_011446, VSP_011447; Name=1; IsoId=O95789-1; Sequence=VSP_034682, VSP_034683; Name=4; IsoId=O95789-4; Sequence=VSP_034680, VSP_034681; Note=No experimental confirmation available.; Name=5; IsoId=O95789-5; Sequence=VSP_035287, VSP_035288; Note=No experimental confirmation available.; 


uniprotID: O15062
geneSymbol: ZBTB5
name: Zinc finger and BTB domain-containing protein 5
length: 677
go: ENSG00000168795;
snps: rs17502738
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
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]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cellular response to DNA damage stimulus [GO:0006974]; negative regulation of transcription by RNA polymerase II [GO:0000122]


uniprotID: Q15649
geneSymbol: ZNHIT3
pdb: 2YQQ;5L85;
length: 155
go: ENSG00000273611;
snps: rs148890852
name:
Zinc finger HIT domain-containing protein 3 (HNF-4a coactivator) (Thyroid hormone receptor interactor 3) (Thyroid receptor-interacting protein 3) (TR-interacting protein 3) (TRIP-3)

sequence:
MASLKCSTVVCVICLEKPKYRCPACRVPYCSVVCFRKHKEQCNPETRPVEKKIRSALPTKTVKPVENKDDDDSIADFLNSDEEEDRVSLQNLKNLGESATLRSLLLNPHLRQLMVNLDQGEDKAKLMRAYMQEPLFVEFADCCLGIVEPSQNEES

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; nucleus [GO:0005634]; pre-snoRNP complex [GO:0070761]; metal ion binding [GO:0046872]; thyroid hormone receptor binding [GO:0046966]; box C/D snoRNP assembly [GO:0000492]; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000463]; regulation of transcription, DNA-templated [GO:0006355]; snoRNA localization [GO:0048254]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15649-1; Sequence=Displayed; Name=2; IsoId=Q15649-2; Sequence=VSP_055155; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28335020}. Nucleus {ECO:0000269|PubMed:28335020}.


uniprotID: Q8N7Q3
geneSymbol: ZNF676
reactome: R-HSA-212436;
name: Zinc finger protein 676
length: 588
go: ENSG00000196109;
snps: rs8104929 rs12986319 rs11671538
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q8IZ13
geneSymbol: ZBED8
length: 594
go: ENSG00000221886;
opentargets: nucleoplasm [GO:0005654]
snps: rs10515808
name:
Protein ZBED8 (Transposon-derived Buster3 transposase-like protein) (Zinc finger BED domain-containing protein 8)

sequence:


uniprotID: P51786
geneSymbol: ZNF157
reactome: R-HSA-212436;
name: Zinc finger protein 157 (Zinc finger protein HZF22)
length: 506
go: ENSG00000147117;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
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]; metal ion binding [GO:0046872]; negative regulation of transcription by RNA polymerase II [GO:0000122]


uniprotID: Q9UNY5
geneSymbol: ZNF232
name: Zinc finger protein 232 (Zinc finger and SCAN domain-containing protein 11)
length: 417
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q9UNY5-1; Sequence=Displayed; Name=Short; IsoId=Q9UNY5-2; Sequence=VSP_006906; 


uniprotID: P51508
geneSymbol: ZNF81
name: Zinc finger protein 81 (HFZ20)
length: 661
go: ENSG00000197779;
snps: rs183846665 rs17147793 rs41312157 rs28933691 rs186251256 rs537825 rs182239885
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q7Z7L9
geneSymbol: ZSCAN2
length: 614
go: ENSG00000176371;
snps: rs2044502
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
name:
Zinc finger and SCAN domain-containing protein 2 (Zinc finger protein 29 homolog) (Zfp-29) (Zinc finger protein 854)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z7L9-1; Sequence=Displayed; Name=3; IsoId=Q7Z7L9-3; Sequence=VSP_011947, VSP_011948; Name=4; IsoId=Q7Z7L9-4; Sequence=VSP_040201, VSP_040202; Note=No experimental confirmation available.; 


uniprotID: Q15942
geneSymbol: ZYX
name: Zyxin (Zyxin-2)
length: 572
go: ENSG00000159840;
snps: rs11978404
sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; phagocytic vesicle [GO:0045335]; stress fiber [GO:0001725]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; cell-cell signaling [GO:0007267]; cell-matrix adhesion [GO:0007160]; cellular response to interferon-gamma [GO:0071346]; integrin-mediated signaling pathway [GO:0007229]; regulation of inflammatory response [GO:0050727]; stress fiber assembly [GO:0043149]; transforming growth factor beta receptor signaling pathway [GO:0007179]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15942-1; Sequence=Displayed; Name=2; IsoId=Q15942-2; Sequence=VSP_057288; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Nucleus. Cell junction, focal adhesion. Note=Associates with the actin cytoskeleton near the adhesion plaques. Enters the nucleus in the presence of HESX1.


uniprotID: Q9GZX5
geneSymbol: ZNF350
reactome: R-HSA-212436;R-HSA-3899300;
length: 532
go: ENSG00000256683;
snps: rs4987241 rs2278420 rs4987042 rs28997584 rs3764539 rs4986771 rs2278415 rs4988337
location: SUBCELLULAR LOCATION: Nucleus. Nucleus matrix. Note=Associated with the nuclear matrix.
name:
Zinc finger protein 350 (KRAB zinc finger protein ZFQR) (Zinc finger and BRCA1-interacting protein with a KRAB domain 1) (Zinc finger protein ZBRK1)

sequence:

opentargets:
nuclear body [GO:0016604]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; metal ion binding [GO:0046872]; RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding [GO:0001162]; transcription regulatory region DNA binding [GO:0044212]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q02386
geneSymbol: ZNF45
reactome: R-HSA-212436;
name: Zinc finger protein 45 (BRC1744) (Zinc finger protein 13) (Zinc finger protein KOX5)
length: 682
go: ENSG00000124459;
snps: rs1047452 rs399098 rs388706 rs388685 rs407731
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
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]; metal ion binding [GO:0046872]; multicellular organism development [GO:0007275]; regulation of transcription, DNA-templated [GO:0006355]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q68EA5
geneSymbol: ZNF57
name: Zinc finger protein 57 (Zinc finger protein 424)
length: 555
go: ENSG00000171970;
snps: rs2288958 rs2288957 rs55682587
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q6ZN08
geneSymbol: ZNF66
name: Putative zinc finger protein 66 (Zinc finger protein 66 pseudogene)
length: 573
go: ENSG00000160229;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q8N8L2
geneSymbol: ZNF491
name: Zinc finger protein 491
length: 437
go: ENSG00000177599;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q96PQ6
geneSymbol: ZNF317
reactome: R-HSA-212436;
name: Zinc finger protein 317
length: 595
go: ENSG00000130803;
snps: rs3752199
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=2; Synonyms=ZNF317-2; IsoId=Q96PQ6-1; Sequence=Displayed; Name=1; Synonyms=ZNF317-1; IsoId=Q96PQ6-2; Sequence=VSP_006916; Name=3; Synonyms=ZNF317-3; IsoId=Q96PQ6-3; Sequence=VSP_006915, VSP_006916; Name=4; Synonyms=ZNF317-4; IsoId=Q96PQ6-4; Sequence=VSP_006915; 


uniprotID: Q8IZ20
geneSymbol: ZNF683
length: 524
go: ENSG00000176083;
snps: rs35040247 rs10794532 rs10794531 rs17852672 rs11247933
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Tissue-resident T-cell transcription regulator protein ZNF683 (Homolog of Blimp-1 in T-cell) (Hobit) (Zinc finger protein 683)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; promoter-specific chromatin binding [GO:1990841]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; adaptive immune response [GO:0002250]; cellular response to ionomycin [GO:1904637]; innate immune response [GO:0045087]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of gene expression [GO:0010628]; regulation of extrathymic T cell differentiation [GO:0033082]; regulation of gene expression [GO:0010468]; regulation of natural killer cell differentiation [GO:0032823]; regulation of natural killer cell differentiation involved in immune response [GO:0032826]; regulation of NK T cell differentiation [GO:0051136]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Extra large, XL {ECO:0000303|PubMed:26179882}; IsoId=Q8IZ20-1; Sequence=Displayed; Name=2; Synonyms=Large, L {ECO:0000303|PubMed:26179882}; IsoId=Q8IZ20-2; Sequence=VSP_018167; Note=No experimental confirmation available.; 


uniprotID: Q96IT1
geneSymbol: ZNF496
reactome: R-HSA-212436;
name: Zinc finger protein 496 (Zinc finger protein with KRAB and SCAN domains 17)
length: 587
go: ENSG00000162714;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IT1-1; Sequence=Displayed; Name=2; IsoId=Q96IT1-2; Sequence=VSP_038755; Note=No experimental confirmation available.; 


uniprotID: Q9C0F3
geneSymbol: ZNF436
reactome: R-HSA-212436;
name: Zinc finger protein 436
length: 470
go: ENSG00000125945;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17089209}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]


uniprotID: Q6ZNH5
geneSymbol: ZNF497
name: Zinc finger protein 497
length: 498
go: ENSG00000174586;
snps: rs12609654
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q9UJW8
geneSymbol: ZNF180
reactome: R-HSA-212436;
name: Zinc finger protein 180 (HHZ168)
length: 692
snps: rs2571108 rs2253563 rs1897820
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UJW8-1; Sequence=Displayed; Name=2; IsoId=Q9UJW8-2; Sequence=VSP_056706; Name=3; IsoId=Q9UJW8-3; Sequence=VSP_056707; Name=4; IsoId=Q9UJW8-4; Sequence=VSP_056705; 


uniprotID: Q9UJN7
geneSymbol: ZNF391
name: Zinc finger protein 391
length: 358
go: ENSG00000124613;
snps: rs10807020 rs10807021
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: O14863
geneSymbol: SLC30A4
name: Zinc transporter 4 (ZnT-4) (Solute carrier family 30 member 4)
length: 429
go: ENSG00000104154;
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; zinc ion transmembrane transporter activity [GO:0005385]; regulation of sequestering of zinc ion [GO:0061088]; response to toxic substance [GO:0009636]; response to zinc ion [GO:0010043]; zinc ion homeostasis [GO:0055069]; zinc ion transmembrane transport [GO:0071577]

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Late endosome membrane {ECO:0000269|PubMed:17349999}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:17349999}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q96NB3
geneSymbol: ZNF830
reactome: R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;
name: Zinc finger protein 830 (Coiled-coil domain-containing protein 16)
length: 372
go: ENSG00000198783;
snps: rs8073825 rs8078059 rs931196 rs8078217 rs3744355
sequence:

opentargets:
chromosome [GO:0005694]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]; blastocyst growth [GO:0001832]; cell division [GO:0051301]; chromosome organization [GO:0051276]; intestinal epithelial structure maintenance [GO:0060729]; mitotic cell cycle [GO:0000278]; mitotic DNA damage checkpoint [GO:0044773]; mitotic DNA replication checkpoint [GO:0033314]; mRNA processing [GO:0006397]; negative regulation of apoptotic process [GO:0043066]; nuclear DNA replication [GO:0033260]; ovarian follicle development [GO:0001541]; preantral ovarian follicle growth [GO:0001546]; replication fork protection [GO:0048478]; RNA splicing [GO:0008380]; transcription-coupled nucleotide-excision repair [GO:0006283]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25599396}. Chromosome {ECO:0000250|UniProtKB:Q8R1N0}. Nucleus speckle {ECO:0000250|UniProtKB:Q8R1N0}. Note=Excluded from nucleolus. {ECO:0000250|UniProtKB:Q8R1N0}.


uniprotID: Q8N720
geneSymbol: ZNF655
reactome: R-HSA-212436;
name: Zinc finger protein 655 (Vav-interacting Krueppel-like protein)
length: 491
go: ENSG00000197343;
snps: rs17853754
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N720-1; Sequence=Displayed; Name=2; IsoId=Q8N720-2; Sequence=VSP_036030, VSP_036031; Name=3; IsoId=Q8N720-3; Sequence=VSP_041157; Name=4; IsoId=Q8N720-4; Sequence=VSP_044809, VSP_044810; Note=No experimental confirmation available.; 


uniprotID: P52744
geneSymbol: ZNF138
reactome: R-HSA-212436;
name: Zinc finger protein 138
length: 262
go: ENSG00000197008;
snps: rs10949946
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P52744-1; Sequence=Displayed; Name=2; IsoId=P52744-2; Sequence=VSP_044921; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=P52744-3; Sequence=VSP_044921, VSP_047446, VSP_047447; 


uniprotID: Q9UDV7
geneSymbol: ZNF282
reactome: R-HSA-212436;
name: Zinc finger protein 282 (HTLV-I U5RE-binding protein 1) (HUB-1)
length: 671
go: ENSG00000170265;
snps: rs1202418
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; zinc ion binding [GO:0008270]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UDV7-1; Sequence=Displayed; Name=2; IsoId=Q9UDV7-2; Sequence=VSP_056545, VSP_056546; Note=No experimental confirmation available.; 


uniprotID: Q96N58
geneSymbol: ZNF578
name: Zinc finger protein 578
length: 590
go: ENSG00000258405;
snps: rs161931
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q9HBT7
geneSymbol: ZNF287
reactome: R-HSA-212436;
name: Zinc finger protein 287 (Zinc finger protein with KRAB and SCAN domains 13)
length: 754
snps: rs7224723
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cytokine biosynthetic process [GO:0042035]


uniprotID: Q9H4T2
geneSymbol: ZSCAN16
pdb: 2COT;
length: 348
go: ENSG00000196812;
snps: rs750071607
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Zinc finger and SCAN domain-containing protein 16 (Zinc finger protein 392) (Zinc finger protein 435)

sequence:


uniprotID: P17040
geneSymbol: ZSCAN20
length: 1043
go: ENSG00000121903;
snps: rs34446695 rs4403594
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
name:
Zinc finger and SCAN domain-containing protein 20 (Zinc finger protein 31) (Zinc finger protein 360) (Zinc finger protein KOX29)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P17040-1; Sequence=Displayed; Name=2; IsoId=P17040-2; Sequence=VSP_036735; Name=3; IsoId=P17040-3; Sequence=VSP_036738; Note=No experimental confirmation available.; Name=4; IsoId=P17040-4; Sequence=VSP_036736, VSP_036737, VSP_036739; Note=No experimental confirmation available.; 


uniprotID: Q96NG8
geneSymbol: ZNF582
reactome: R-HSA-212436;
name: Zinc finger protein 582
length: 517
go: ENSG00000018869;
snps: rs369155373 rs11883260 rs149022328
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q8WUU4
geneSymbol: ZNF296
name: Zinc finger protein 296 (ZFP296) (Zinc finger protein 342)
length: 475
go: ENSG00000170684;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:E9Q6W4}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; spermatogenesis [GO:0007283]


uniprotID: Q9H6B1
geneSymbol: ZNF385D
name: Zinc finger protein 385D (Zinc finger protein 659)
length: 395
go: ENSG00000151789;
opentargets: nucleus [GO:0005634]; nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q3MJ62
geneSymbol: ZSCAN23
length: 389
go: ENSG00000187987;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
name:
Zinc finger and SCAN domain-containing protein 23 (Zinc finger protein 390) (Zinc finger protein 453)

sequence:


uniprotID: Q15911
geneSymbol: ZFHX3
reactome: R-HSA-8941855;
pdb: 2DA1;2DA2;2DA3;
length: 3703
go: ENSG00000140836;
snps: rs7193297 rs58480263 rs16971436 rs2073852 rs4788682 rs2213978 rs8044440
name:
Zinc finger homeobox protein 3 (AT motif-binding factor 1) (AT-binding transcription factor 1) (Alpha-fetoprotein enhancer-binding protein) (Zinc finger homeodomain protein 3) (ZFH-3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; 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]; enzyme binding [GO:0019899]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; brain development [GO:0007420]; circadian regulation of gene expression [GO:0032922]; muscle organ development [GO:0007517]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell adhesion [GO:0045785]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of locomotor rhythm [GO:1904059]; regulation of neuron differentiation [GO:0045664]; regulation of transcription, DNA-templated [GO:0006355]; response to transforming growth factor beta [GO:0071559]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q15911-1; Sequence=Displayed; Name=B; IsoId=Q15911-2; Sequence=VSP_006825; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20599712, ECO:0000269|PubMed:24651376}. Cytoplasm {ECO:0000269|PubMed:20599712}. Note=Translocates from the cytoplasm to the nucleus following TGF-beta stimulation. Expressed in nuclear body (NB)-like dots in the nucleus some of which overlap or closely associate with PML body. {ECO:0000269|PubMed:20599712, ECO:0000269|PubMed:24651376}.


uniprotID: Q9P2F9
geneSymbol: ZNF319
name: Zinc finger protein 319
length: 582
go: ENSG00000166188;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q6X784
geneSymbol: ZPBP2
name: Zona pellucida-binding protein 2 (ZPBP-like protein)
length: 338
go: ENSG00000186075;
snps: rs35591738 rs189660050 rs35829084 rs11557467 rs35302660
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cell body [GO:0044297]; extracellular region [GO:0005576]; nucleus [GO:0005634]; zona pellucida receptor complex [GO:0002199]; acrosome assembly [GO:0001675]; binding of sperm to zona pellucida [GO:0007339]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6X784-1; Sequence=Displayed; Name=2; IsoId=Q6X784-2; Sequence=VSP_011683; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q6X786}. Secreted {ECO:0000305}. Note=Released after the acrosomal reaction. {ECO:0000250|UniProtKB:Q6X786}.


uniprotID: Q9Y6X8
geneSymbol: ZHX2
pdb: 2DMP;3NAU;
length: 837
go: ENSG00000178764;
snps: rs9649951 rs35319449 rs3802264
name:
Zinc fingers and homeoboxes protein 2 (Alpha-fetoprotein regulator 1) (AFP regulator 1) (Regulator of AFP) (Zinc finger and homeodomain protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; transcription corepressor activity [GO:0003714]; mRNA catabolic process [GO:0006402]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; somatic stem cell population maintenance [GO:0035019]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:12741956, ECO:0000269|PubMed:17056598}.


uniprotID: P51815
geneSymbol: ZNF75D
reactome: R-HSA-212436;
name: Zinc finger protein 75D (Zinc finger protein 75) (Zinc finger protein 82)
length: 510
go: ENSG00000186376;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51815-1; Sequence=Displayed; Name=2; IsoId=P51815-2; Sequence=VSP_044460; 


uniprotID: Q3KNS6
geneSymbol: ZNF829
name: Zinc finger protein 829
length: 432
go: ENSG00000185869;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3KNS6-1; Sequence=Displayed; Name=2; IsoId=Q3KNS6-2; Sequence=VSP_033769, VSP_033770; Name=3; IsoId=Q3KNS6-3; Sequence=VSP_057606; 


uniprotID: Q96MU6
geneSymbol: ZNF778
reactome: R-HSA-212436;
name: Zinc finger protein 778
length: 729
go: ENSG00000170100;
snps: rs55974122
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MU6-1; Sequence=Displayed; Name=2; IsoId=Q96MU6-2; Sequence=VSP_040338, VSP_040339; 


uniprotID: Q96K58
geneSymbol: ZNF668
reactome: R-HSA-212436;
name: Zinc finger protein 668
length: 619
snps: rs2032917 rs17851949 rs8046978
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96K58-1; Sequence=Displayed; Name=2; IsoId=Q96K58-2; Sequence=VSP_053786; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9UPR6
geneSymbol: ZFR2
name: Zinc finger RNA-binding protein 2
length: 939
go: ENSG00000105278;
snps: rs2240235 rs2240234 rs2240233 rs2240232 rs2301843 rs2301839 rs45465594
sequence:

opentargets:
nucleus [GO:0005634]; double-stranded RNA binding [GO:0003725]; single-stranded RNA binding [GO:0003727]; zinc ion binding [GO:0008270]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UPR6-1; Sequence=Displayed; Name=2; IsoId=Q9UPR6-2; Sequence=VSP_040635, VSP_040636; Name=3; IsoId=Q9UPR6-3; Sequence=VSP_057301, VSP_057302; Note=No experimental confirmation available.; 


uniprotID: Q9BRR0
geneSymbol: ZKSCAN3
reactome: R-HSA-212436;
length: 538
go: ENSG00000189298;
snps: rs733743 rs3857554 rs3857555 rs17856167 rs371085669 rs13201752 rs13201753 rs213227
name:
Zinc finger protein with KRAB and SCAN domains 3 (Zinc finger and SCAN domain-containing protein 13) (Zinc finger protein 306) (Zinc finger protein 309) (Zinc finger protein 47 homolog) (Zf47) (Zfp-47)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; autophagy [GO:0006914]; lysosome organization [GO:0007040]; negative regulation of autophagy [GO:0010507]; negative regulation of cellular senescence [GO:2000773]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRR0-1; Sequence=Displayed; Name=2; IsoId=Q9BRR0-2; Sequence=VSP_045908; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly localizes in the nucleus. Under starvation conditions translocates to the cytoplasm, allowing expression of target genes involved in autophagy and lysosome biogenesis/function.


uniprotID: Q96ND8
geneSymbol: ZNF583
reactome: R-HSA-212436;
name: Zinc finger protein 583 (Zinc finger protein L3-5)
length: 569
go: ENSG00000198440;
snps: rs12976917
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q96MX3
geneSymbol: ZNF48
name: Zinc finger protein 48 (Zinc finger protein 553)
length: 618
go: ENSG00000180035;
snps: rs7200143 rs12921440 rs34843513
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q9ULT6
geneSymbol: ZNRF3
reactome: R-HSA-4641263;
length: 936
go: ENSG00000183579;
name:
E3 ubiquitin-protein ligase ZNRF3 (EC 2.3.2.27) (RING finger protein 203) (RING-type E3 ubiquitin transferase ZNRF3) (Zinc/RING finger protein 3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; frizzled binding [GO:0005109]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of non-canonical Wnt signaling pathway [GO:2000051]; protein ubiquitination [GO:0016567]; regulation of Wnt signaling pathway, planar cell polarity pathway [GO:2000095]; stem cell proliferation [GO:0072089]; ubiquitin-dependent protein catabolic process [GO:0006511]; Wnt receptor catabolic process [GO:0038018]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULT6-1; Sequence=Displayed; Name=2; IsoId=Q9ULT6-2; Sequence=VSP_044043; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22575959}; Single-pass type I membrane protein {ECO:0000269|PubMed:22575959}.


uniprotID: A6NFI3
geneSymbol: ZNF316
name: Zinc finger protein 316
length: 1004
go: ENSG00000205903;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:


uniprotID: Q9HCG1
geneSymbol: ZNF160
reactome: R-HSA-212436;
name: Zinc finger protein 160 (Zinc finger protein HZF5) (Zinc finger protein Kr18) (HKr18)
length: 818
go: ENSG00000170949;
snps: rs329709 rs8105668
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; hemopoiesis [GO:0030097]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCG1-1; Sequence=Displayed; Name=2; IsoId=Q9HCG1-2; Sequence=VSP_055940, VSP_055941; Note=No experimental confirmation available.; 


uniprotID: Q8NB50
geneSymbol: ZFP62
name: Zinc finger protein 62 homolog (Zfp-62)
length: 900
go: ENSG00000196670;
snps: rs705441 rs168726
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NB50-1; Sequence=Displayed; Name=2; IsoId=Q8NB50-2; Sequence=VSP_010136; Note=No experimental confirmation available.; Name=3; IsoId=Q8NB50-3; Sequence=VSP_045257; Note=No experimental confirmation available.; 


uniprotID: Q6P3V2
geneSymbol: ZNF585A
reactome: R-HSA-212436;
name: Zinc finger protein 585A
length: 769
go: ENSG00000196967;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P3V2-1; Sequence=Displayed; Name=2; IsoId=Q6P3V2-2; Sequence=VSP_016017, VSP_016018; Note=No experimental confirmation available.; 


uniprotID: Q9UK33
geneSymbol: ZNF580
name: Zinc finger protein 580 (LDL-induced EC protein)
length: 172
go: ENSG00000213015;
sequence:
MLLLPPRPPHPRSSSPEAMDPPPPKAPPFPKAEGPSSTPSSAAGPRPPRLGRHLLIDANGVPYTYTVQLEEEPRGPPQREAPPGEPGPRKGYSCPECARVFASPLRLQSHRVSHSDLKPFTCGACGKAFKRSSHLSRHRATHRARAGPPHTCPLCPRRFQDAAELAQHVRLH

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; cellular response to hydrogen peroxide [GO:0070301]; chemotaxis [GO:0006935]; inflammatory response [GO:0006954]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of leukocyte chemotaxis [GO:0002690]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20382120, ECO:0000269|PubMed:21599657}. Note=Colocalized with SMAD2 in the nucleus.


uniprotID: A8MUV8
geneSymbol: ZNF727
reactome: R-HSA-212436;
name: Putative zinc finger protein 727 (Zinc finger protein 727 pseudogene)
length: 499
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:


uniprotID: Q8WVZ1
geneSymbol: ZDHHC19
length: 309
go: ENSG00000163958;
snps: rs13315830
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Probable palmitoyltransferase ZDHHC19 (EC 2.3.1.225) (Zinc finger DHHC domain-containing protein 19) (DHHC-19)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; protein-cysteine S-palmitoyltransferase activity [GO:0019706]; peptidyl-L-cysteine S-palmitoylation [GO:0018230]; protein targeting to membrane [GO:0006612]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WVZ1-1; Sequence=Displayed; Name=2; IsoId=Q8WVZ1-2; Sequence=VSP_056001; Note=No experimental confirmation available.; 


uniprotID: Q3SY52
geneSymbol: ZIK1
reactome: R-HSA-212436;
name: Zinc finger protein interacting with ribonucleoprotein K (Zinc finger protein 762)
length: 487
go: ENSG00000171649;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3SY52-1; Sequence=Displayed; Name=2; IsoId=Q3SY52-2; Sequence=VSP_025147; Name=3; IsoId=Q3SY52-3; Sequence=VSP_025148; 


uniprotID: Q9NW07
geneSymbol: ZNF358
name: Zinc finger protein 358
length: 568
go: ENSG00000198816;
snps: rs11555037
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; embryonic forelimb morphogenesis [GO:0035115]; neural tube development [GO:0021915]; stem cell population maintenance [GO:0019827]


uniprotID: Q6IV72
geneSymbol: ZNF425
reactome: R-HSA-212436;
name: Zinc finger protein 425
length: 752
go: ENSG00000204947;
snps: rs6965052
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; negative regulation of transcription, DNA-templated [GO:0045892]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21266108}. Cytoplasm {ECO:0000269|PubMed:21266108}. Note=Predominantly expressed in the nucleus.


uniprotID: Q3KQV3
geneSymbol: ZNF792
reactome: R-HSA-212436;
name: Zinc finger protein 792
length: 632
go: ENSG00000180884;
snps: rs2651079 rs3746244
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q9ULC8
geneSymbol: ZDHHC8
reactome: R-HSA-8963896;
length: 765
go: ENSG00000099904;
name:
Probable palmitoyltransferase ZDHHC8 (EC 2.3.1.225) (Zinc finger DHHC domain-containing protein 8) (DHHC-8) (Zinc finger protein 378)

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; palmitoyltransferase activity [GO:0016409]; protein-cysteine S-palmitoyltransferase activity [GO:0019706]; high-density lipoprotein particle assembly [GO:0034380]; locomotory behavior [GO:0007626]; protein palmitoylation [GO:0018345]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9ULC8-1; Sequence=Displayed; Name=2; IsoId=Q9ULC8-2; Sequence=VSP_012572; Note=No experimental confirmation available.; Name=3; IsoId=Q9ULC8-3; Sequence=VSP_012573; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q9UKY1
geneSymbol: ZHX1
pdb: 2ECB;2GHF;2LY9;3NAR;
name: Zinc fingers and homeoboxes protein 1
length: 873
go: ENSG00000165156;
sequence:

opentargets:
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]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; transcription corepressor activity [GO:0003714]; cell differentiation [GO:0030154]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKY1-1; Sequence=Displayed; Name=2; Synonyms=ZHX1-C8orf76; IsoId=Q96EF9-1; Sequence=External; Note=Based on a readthrough transcript which may produce a ZHX1-C8orf76 fusion protein. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:12237128, ECO:0000269|PubMed:17056598}. Note=Colocalized in the nucleus with DNMT3B.


uniprotID: Q9UJW7
geneSymbol: ZNF229
name: Zinc finger protein 229
length: 825
snps: rs2571174 rs12151338 rs57014690 rs1434579 rs10409807
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UJW7-1; Sequence=Displayed; Name=2; IsoId=Q9UJW7-2; Sequence=VSP_054778; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: B7Z6K7
geneSymbol: ZNF814
name: Putative uncharacterized zinc finger protein 814 (Putative zinc finger protein LOC730051)
length: 855
go: ENSG00000204514;
sequence:


uniprotID: Q96MR9
geneSymbol: ZNF560
reactome: R-HSA-212436;
name: Zinc finger protein 560
length: 790
go: ENSG00000198028;
snps: rs10416098
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q86XN6
geneSymbol: ZNF761
reactome: R-HSA-212436;
name: Zinc finger protein 761
length: 746
go: ENSG00000160336;
snps: rs2708743 rs1984432 rs2708742 rs2617726 rs139713552
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q8N554
geneSymbol: ZNF276
name: Zinc finger protein 276 (Zfp-276) (Zinc finger protein 477)
length: 614
go: ENSG00000158805;
snps: rs6500437 rs17719249 rs17227424
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; kinetochore [GO:0000776]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; zinc ion binding [GO:0008270]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N554-1; Sequence=Displayed; Name=2; IsoId=Q8N554-2; Sequence=VSP_026104; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}.


uniprotID: Q6NZY4
geneSymbol: ZCCHC8
pdb: 5LXR;5LXY;6C90;
name: Zinc finger CCHC domain-containing protein 8 (TRAMP-like complex RNA-binding factor ZCCHC8)
length: 707
go: ENSG00000033030;
snps: rs1063155
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; TRAMP complex [GO:0031499]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; mRNA splicing, via spliceosome [GO:0000398]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NZY4-1; Sequence=Displayed; Name=2; IsoId=Q6NZY4-2; Sequence=VSP_013717; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:16263084, ECO:0000269|PubMed:21855801}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00768}. Note=Excluded from nucleolus. {ECO:0000269|PubMed:21855801}.


uniprotID: Q9UDV6
geneSymbol: ZNF212
reactome: R-HSA-212436;
name: Zinc finger protein 212 (Zinc finger protein C2H2-150)
length: 495
snps: rs34185245
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; zinc ion binding [GO:0008270]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q3SXZ3
geneSymbol: ZNF718
reactome: R-HSA-212436;
name: Zinc finger protein 718
length: 478
go: ENSG00000250312;
snps: rs9684215 rs9684214 rs7677201 rs7440274
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3SXZ3-1; Sequence=Displayed; Name=2; IsoId=Q3SXZ3-2; Sequence=VSP_018110; 


uniprotID: Q6PDB4
geneSymbol: ZNF880
name: Zinc finger protein 880
length: 577
go: ENSG00000221923;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PDB4-1; Sequence=Displayed; Name=2; IsoId=Q6PDB4-2; Sequence=VSP_032509, VSP_032510; Note=No experimental confirmation available.; 


uniprotID: A8MTY0
geneSymbol: ZNF724
reactome: R-HSA-212436;
name: Zinc finger protein 724
length: 619
go: ENSG00000196081;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: A6NNF4
geneSymbol: ZNF726
reactome: R-HSA-212436;
name: Zinc finger protein 726
length: 738
go: ENSG00000213967;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A6NNF4-1; Sequence=Displayed; Name=2; IsoId=A6NNF4-2; Sequence=VSP_034216, VSP_034217; Name=3; IsoId=A6NNF4-3; Sequence=VSP_054850; 


uniprotID: Q9BUY5
geneSymbol: ZNF426
reactome: R-HSA-212436;
name: Zinc finger protein 426
length: 554
go: ENSG00000130818;
snps: rs2042200 rs10420644
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:


uniprotID: Q7Z340
geneSymbol: ZNF551
reactome: R-HSA-212436;
name: Zinc finger protein 551 (Zinc finger protein KOX23)
length: 670
go: ENSG00000204519;
snps: rs10413864 rs12611105
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z340-1; Sequence=Displayed; Name=2; IsoId=Q7Z340-2; Sequence=VSP_014799; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z340-3; Sequence=VSP_014800; Note=No experimental confirmation available.; 


uniprotID: Q8NEP9
geneSymbol: ZNF555
reactome: R-HSA-212436;
name: Zinc finger protein 555
length: 628
go: ENSG00000186300;
snps: rs17856649 rs36012545 rs17851955 rs17856648
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NEP9-1; Sequence=Displayed; Name=2; IsoId=Q8NEP9-2; Sequence=VSP_018382, VSP_018383, VSP_018384; Name=3; IsoId=Q8NEP9-4; Sequence=VSP_018382; Note=No experimental confirmation available.; 


uniprotID: B2RXF5
geneSymbol: ZBTB42
name: Zinc finger and BTB domain-containing protein 42
length: 422
go: ENSG00000179627;
snps: rs730882163
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; cellular response to DNA damage stimulus [GO:0006974]; muscle organ development [GO:0007517]; negative regulation of transcription by RNA polymerase II [GO:0000122]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q811H0}. Nucleus {ECO:0000269|PubMed:21193930}. Nucleus, nucleoplasm {ECO:0000250|UniProtKB:Q811H0}. Note=In skeletal myofibers, highly enriched in subsynaptic nuclei at the neuromuscular junctions. {ECO:0000250|UniProtKB:Q811H0}.


uniprotID: Q9UK55
geneSymbol: SERPINA10
reactome: R-HSA-381426;R-HSA-8957275;
pdb: 3F1S;3H5C;4AFX;4AJU;
name: Protein Z-dependent protease inhibitor (PZ-dependent protease inhibitor) (PZI) (Serpin A10)
length: 444
go: ENSG00000140093;
snps: rs941590 rs941591 rs56137907 rs2232699 rs2232700 rs2232701 rs2232708 rs2232710 rs546304706
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; heparin binding [GO:0008201]; serine-type endopeptidase inhibitor activity [GO:0004867]; blood coagulation [GO:0007596]; cellular protein metabolic process [GO:0044267]; negative regulation of endopeptidase activity [GO:0010951]; post-translational protein modification [GO:0043687]


uniprotID: Q6UX98
geneSymbol: ZDHHC24
length: 284
go: ENSG00000174165;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Probable palmitoyltransferase ZDHHC24 (EC 2.3.1.225) (Zinc finger DHHC domain-containing protein 24) (DHHC-24)

sequence:


uniprotID: Q9UHW5
geneSymbol: GPN3
name: GPN-loop GTPase 3 (ATP-binding domain 1 family member C)
length: 284
go: ENSG00000111231;
opentargets: protein-containing complex [GO:0032991]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]
snps: rs17856906 rs17850320
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UHW5-1; Sequence=Displayed; Name=2; IsoId=Q9UHW5-2; Sequence=VSP_028125; Name=3; IsoId=Q9UHW5-3; Sequence=VSP_047327; Note=Gene prediction based on EST data.; 


uniprotID: P56537
geneSymbol: EIF6
length: 245
go: ENSG00000242372;
name:
Eukaryotic translation initiation factor 6 (eIF-6) (B(2)GCN homolog) (B4 integrin interactor) (CAB) (p27(BBP))

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; preribosome, large subunit precursor [GO:0030687]; ribosomal large subunit binding [GO:0043023]; ribosome binding [GO:0043022]; translation initiation factor activity [GO:0003743]; assembly of large subunit precursor of preribosome [GO:1902626]; gene silencing by miRNA [GO:0035195]; mature ribosome assembly [GO:0042256]; miRNA mediated inhibition of translation [GO:0035278]; positive regulation of translation [GO:0045727]; regulation of fatty acid biosynthetic process [GO:0042304]; regulation of glycolytic process [GO:0006110]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of reactive oxygen species metabolic process [GO:2000377]; response to insulin [GO:0032868]; ribosomal large subunit biogenesis [GO:0042273]; ribosomal subunit export from nucleus [GO:0000054]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P56537-1; Sequence=Displayed; Name=2; IsoId=P56537-2; Sequence=VSP_046747; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Shuttles between cytoplasm and nucleus/nucleolus.


uniprotID: P46091
geneSymbol: GPR1
name: G-protein coupled receptor 1
length: 355
go: ENSG00000183671;
snps: rs3732083
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; neuropeptide binding [GO:0042923]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]


uniprotID: P40305
geneSymbol: IFI27
reactome: R-HSA-909733;
length: 122
go: ENSG00000165949;
snps: rs2227974
name:
Interferon alpha-inducible protein 27, mitochondrial (p27) (Interferon alpha-induced 11.5 kDa protein) (Interferon-stimulated gene 12a protein) (ISG12(a)) (ISG12A)

sequence:
MEASALTSSAVTSVAKVVRVASGSAVVLPLARIATVVIGGVVAMAAVPMVLSAMGFTAAGIASSSIAAKMMSAAAIANGGGVASGSLVATLQSLGATGLSGLTKFILGSIGSAIAAVIARFY

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]; identical protein binding [GO:0042802]; lamin binding [GO:0005521]; RNA polymerase II activating transcription factor binding [GO:0001102]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; defense response to virus [GO:0051607]; extrinsic apoptotic signaling pathway [GO:0097191]; innate immune response [GO:0045087]; modulation by host of viral genome replication [GO:0044827]; negative regulation of transcription by RNA polymerase II [GO:0000122]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein K48-linked ubiquitination [GO:0070936]; regulation of protein export from nucleus [GO:0046825]; type I interferon signaling pathway [GO:0060337]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=ISG12 {ECO:0000303|PubMed:12878323}, ISG12A {ECO:0000303|PubMed:27673746}; IsoId=P40305-2; Sequence=Displayed; Name=2; Synonyms=ISG12delta {ECO:0000303|PubMed:12878323}, ISG12Adelta {ECO:0000303|PubMed:27673746}; IsoId=P40305-1; Sequence=VSP_059909; Name=3; Synonyms=ISG12-S {ECO:0000303|PubMed:12878323}, ISG12A-S {ECO:0000303|PubMed:27673746}; IsoId=P40305-3; Sequence=VSP_059908; Note=Major isoform in blood and cervix. {ECO:0000269|PubMed:12878323}; Name=4; Synonyms=ISG12-Sdelta {ECO:0000303|PubMed:12878323}, ISG12A-Sdelta {ECO:0000303|PubMed:27673746}; IsoId=P40305-4; Sequence=VSP_059907; 

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:18330707, ECO:0000269|PubMed:27673746}; Multi-pass membrane protein {ECO:0000255}. Nucleus inner membrane {ECO:0000269|PubMed:11722583, ECO:0000269|PubMed:22427340}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:22427340}; Multi-pass membrane protein {ECO:0000255}. Note=Exclusive localizations in either the nucleus or the mitochondrion have been reported. {ECO:0000269|PubMed:22427340, ECO:0000269|PubMed:27673746}.


uniprotID: O43194
geneSymbol: GPR39
reactome: R-HSA-373076;R-HSA-416476;R-HSA-418555;
name: G-protein coupled receptor 39
length: 453
go: ENSG00000183840;
snps: rs2241764 rs16838944
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; metal ion binding [GO:0046872]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: O75388
geneSymbol: GPR32
reactome: R-HSA-418555;
name: Probable G-protein coupled receptor 32
length: 356
go: ENSG00000142511;
snps: rs1864011
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; N-formyl peptide receptor activity [GO:0004982]; complement receptor mediated signaling pathway [GO:0002430]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]


uniprotID: Q9HC97
geneSymbol: GPR35
reactome: R-HSA-373076;
name: G-protein coupled receptor 35 (Kynurenic acid receptor) (KYNA receptor)
length: 309
go: ENSG00000178623;
snps: rs35146537 rs139197368 rs13387859 rs3749171 rs34778053 rs12468485 rs3749172
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; C-X-C chemokine receptor activity [GO:0016494]; G protein-coupled receptor activity [GO:0004930]; chemokine-mediated signaling pathway [GO:0070098]; cytoskeleton organization [GO:0007010]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of neuronal action potential [GO:1904456]; negative regulation of voltage-gated calcium channel activity [GO:1901386]; 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 Rho protein signal transduction [GO:0035025]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HC97-1; Sequence=Displayed; Name=2; IsoId=Q9HC97-2; Sequence=VSP_045871; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16754668}; Multi-pass membrane protein {ECO:0000269|PubMed:16754668}. Note=Internalized to the cytoplasm after exposure to kynurenic acid.


uniprotID: Q9Y2T6
geneSymbol: GPR55
reactome: R-HSA-373076;R-HSA-418594;
name: G-protein coupled receptor 55
length: 319
go: ENSG00000135898;
snps: rs3749073 rs34229723
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cannabinoid receptor activity [GO:0004949]; G protein-coupled receptor activity [GO:0004930]; activation of phospholipase C activity [GO:0007202]; bone resorption [GO:0045453]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of osteoclast differentiation [GO:0045671]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of Rho protein signal transduction [GO:0035025]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18757503}; Multi-pass membrane protein {ECO:0000269|PubMed:18757503}.


uniprotID: P09913
geneSymbol: IFIT2
reactome: R-HSA-909733;
pdb: 4G1T;
length: 472
go: ENSG00000119922;
snps: rs17468739 rs2070845 rs1727
name:
Interferon-induced protein with tetratricopeptide repeats 2 (IFIT-2) (ISG-54 K) (Interferon-induced 54 kDa protein) (IFI-54K) (P54)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; RNA binding [GO:0003723]; apoptotic mitochondrial changes [GO:0008637]; cellular response to interferon-alpha [GO:0035457]; defense response to virus [GO:0051607]; negative regulation of protein binding [GO:0032091]; positive regulation of apoptotic process [GO:0043065]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21190939}. Endoplasmic reticulum {ECO:0000269|PubMed:21190939}.


uniprotID: Q9NYM4
geneSymbol: GPR83
reactome: R-HSA-418555;
name: Probable G-protein coupled receptor 83 (G-protein coupled receptor 72)
length: 423
go: ENSG00000123901;
snps: rs3740868
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; non-motile cilium [GO:0097730]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; neuropeptide Y receptor activity [GO:0004983]; G protein-coupled receptor signaling pathway [GO:0007186]; response to glucocorticoid [GO:0051384]


uniprotID: Q01629
geneSymbol: IFITM2
reactome: R-HSA-909733;
length: 132
go: ENSG00000185201;
snps: rs1058900 rs14408 rs1059091
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Interferon-induced transmembrane protein 2 (Dispanin subfamily A member 2c) (DSPA2c) (Interferon-inducible protein 1-8D)

sequence:
MNHIVQTFSPVNSGQPPNYEMLKEEQEVAMLGVPHNPAPPMSTVIHIRSETSVPDHVVWSLFNTLFMNTCCLGFIAFAYSVKSRDRKMVGDVTGAQAYASTAKCLNIWALILGIFMTILLIIIPVLVVQAQR

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; defense response to virus [GO:0051607]; immune response [GO:0006955]; negative regulation of viral entry into host cell [GO:0046597]; negative regulation of viral genome replication [GO:0045071]; response to interferon-alpha [GO:0035455]; response to interferon-beta [GO:0035456]; response to interferon-gamma [GO:0034341]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9GZN0
geneSymbol: GPR88
name: Probable G-protein coupled receptor 88 (Striatum-specific G-protein coupled receptor)
length: 384
go: ENSG00000181656;
snps: rs2809819 rs3001995
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; G protein-coupled photoreceptor activity [GO:0008020]; motor activity [GO:0003774]; cellular response to light stimulus [GO:0071482]; G protein-coupled receptor signaling pathway [GO:0007186]; locomotory behavior [GO:0007626]; motor learning [GO:0061743]; neuromuscular process controlling balance [GO:0050885]; neuronal action potential [GO:0019228]; phototransduction [GO:0007602]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9ESP4}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000250|UniProtKB:Q9ESP4}. Nucleus {ECO:0000250|UniProtKB:Q9ESP4}. Note=During cortical lamination, subcellular location shifts, on the day of birth, from expression at the plasma membrane and in the cytoplasm to the nuclei of neurons. This intranuclear localization remains throughout adulthood. {ECO:0000250|UniProtKB:Q9ESP4}.


uniprotID: P07203
geneSymbol: GPX1
reactome: R-HSA-2142688;R-HSA-2142712;R-HSA-2142770;R-HSA-3299685;R-HSA-74259;
pdb: 2F8A;
name: Glutathione peroxidase 1 (GPx-1) (GSHPx-1) (EC 1.11.1.9) (Cellular glutathione peroxidase)
length: 203
go: ENSG00000233276;
drug: DB00143;
snps: rs8179169 rs6446261 rs1050450
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; glutathione peroxidase activity [GO:0004602]; SH3 domain binding [GO:0017124]; angiogenesis involved in wound healing [GO:0060055]; blood vessel endothelial cell migration [GO:0043534]; cell redox homeostasis [GO:0045454]; cellular response to oxidative stress [GO:0034599]; endothelial cell development [GO:0001885]; fat cell differentiation [GO:0045444]; glutathione metabolic process [GO:0006749]; heart contraction [GO:0060047]; hydrogen peroxide catabolic process [GO:0042744]; interaction with symbiont [GO:0051702]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; lipoxygenase pathway [GO:0019372]; myoblast proliferation [GO:0051450]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of inflammatory response to antigenic stimulus [GO:0002862]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of supramolecular fiber organization [GO:1902905]; protein oxidation [GO:0018158]; purine nucleotide catabolic process [GO:0006195]; regulation of gene expression, epigenetic [GO:0040029]; regulation of mammary gland epithelial cell proliferation [GO:0033599]; regulation of neuron apoptotic process [GO:0043523]; regulation of proteasomal protein catabolic process [GO:0061136]; response to gamma radiation [GO:0010332]; response to hydrogen peroxide [GO:0042542]; response to hydroperoxide [GO:0033194]; response to selenium ion [GO:0010269]; response to symbiotic bacterium [GO:0009609]; response to xenobiotic stimulus [GO:0009410]; sensory perception of sound [GO:0007605]; skeletal muscle fiber development [GO:0048741]; skeletal muscle tissue regeneration [GO:0043403]; temperature homeostasis [GO:0001659]; triglyceride metabolic process [GO:0006641]; UV protection [GO:0009650]; vasodilation [GO:0042311]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P07203-1; Sequence=Displayed; Name=2; IsoId=P07203-2; Sequence=VSP_047369, VSP_047370; Note=Gene prediction based on EST data.; 


uniprotID: Q5T3I0
geneSymbol: GPATCH4
name: G patch domain-containing protein 4
length: 446
opentargets: RNA binding [GO:0003723]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T3I0-1; Sequence=Displayed; Name=2; IsoId=Q5T3I0-2; Sequence=VSP_025479, VSP_025480, VSP_025481; Note=No experimental confirmation available.; Name=3; IsoId=Q5T3I0-3; Sequence=VSP_040831; 


uniprotID: P18283
geneSymbol: GPX2
reactome: R-HSA-2142688;R-HSA-2142712;R-HSA-2142770;R-HSA-3299685;R-HSA-5628897;
pdb: 2HE3;
length: 190
go: ENSG00000176153;
drug: DB00143;
snps: rs17881652 rs17880492
location: SUBCELLULAR LOCATION: Cytoplasm. Note=Mainly cytoplasmic.
name:
Glutathione peroxidase 2 (GPx-2) (GSHPx-2) (EC 1.11.1.9) (Gastrointestinal glutathione peroxidase) (Glutathione peroxidase-gastrointestinal) (GPx-GI) (GSHPx-GI) (Glutathione peroxidase-related protein 2) (GPRP-2)

sequence:
MAFIAKSFYDLSAISLDGEKVDFNTFRGRAVLIENVASLUGTTTRDFTQLNELQCRFPRRLVVLGFPCNQFGHQENCQNEEILNSLKYVRPGGGYQPTFTLVQKCEVNGQNEHPVFAYLKDKLPYPYDDPFSLMTDPKLIIWSPVRRSDVAWNFEKFLIGPEGEPFRRYSRTFPTINIEPDIKRLLKVAI

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; electron transfer activity [GO:0009055]; glutathione peroxidase activity [GO:0004602]; cellular response to oxidative stress [GO:0034599]


uniprotID: P12544
geneSymbol: GZMA
pdb: 1HF1;1OP8;1ORF;
length: 262
go: ENSG00000145649;
snps: rs3104233
location: SUBCELLULAR LOCATION: Isoform alpha: Secreted. Cytoplasmic granule.
name:
Granzyme A (EC 3.4.21.78) (CTL tryptase) (Cytotoxic T-lymphocyte proteinase 1) (Fragmentin-1) (Granzyme-1) (Hanukkah factor) (H factor) (HF)

sequence:

opentargets:
extracellular region [GO:0005576]; immunological synapse [GO:0001772]; nucleus [GO:0005634]; protein homodimerization activity [GO:0042803]; serine-type endopeptidase activity [GO:0004252]; apoptotic process [GO:0006915]; cytolysis [GO:0019835]; immune response [GO:0006955]; negative regulation of DNA binding [GO:0043392]; negative regulation of endodeoxyribonuclease activity [GO:0032078]; negative regulation of oxidoreductase activity [GO:0051354]; positive regulation of apoptotic process [GO:0043065]; proteolysis involved in cellular protein catabolic process [GO:0051603]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=alpha; IsoId=P12544-1; Sequence=Displayed; Name=beta; IsoId=P12544-2; Sequence=VSP_038571, VSP_038572; 


uniprotID: Q6IC98
geneSymbol: GRAMD4
name: GRAM domain-containing protein 4 (Death-inducing protein)
length: 578
go: ENSG00000075240;
snps: rs36211078
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; apoptotic process [GO:0006915]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IC98-1; Sequence=Displayed; Name=2; IsoId=Q6IC98-2; Sequence=VSP_032771; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Colocalizes with COX4I1. {ECO:0000269|PubMed:15565177}.


uniprotID: Q14449
geneSymbol: GRB14
reactome: R-HSA-210993;
pdb: 2AUG;2AUH;4K81;
name: Growth factor receptor-bound protein 14 (GRB14 adapter protein)
length: 540
go: ENSG00000115290;
snps: rs61748245 rs144301087
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; receptor tyrosine kinase binding [GO:0030971]; SH3/SH2 adaptor activity [GO:0005070]; leukocyte migration [GO:0050900]; negative regulation of insulin receptor signaling pathway [GO:0046627]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14449-1; Sequence=Displayed; Name=2; IsoId=Q14449-2; Sequence=VSP_056582, VSP_056583; Note=No experimental confirmation available. {ECO:0000244|PubMed:24275569}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15210700, ECO:0000269|PubMed:19648926}. Endosome membrane {ECO:0000269|PubMed:15210700, ECO:0000269|PubMed:19648926}; Peripheral membrane protein {ECO:0000269|PubMed:15210700, ECO:0000269|PubMed:19648926}. Note=Upon insulin stimulation, translocates to the plasma membrane. {ECO:0000269|PubMed:15210700, ECO:0000269|PubMed:19648926}.


uniprotID: A4D2P6
geneSymbol: GRID2IP
name: Delphilin (Glutamate receptor, ionotropic, delta 2-interacting protein 1)
length: 1211
go: ENSG00000215045;
snps: rs11761490
location: SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}.
sequence:

opentargets:
cell junction [GO:0030054]; postsynaptic membrane [GO:0045211]; long-term synaptic depression [GO:0060292]


uniprotID: Q9Y366
geneSymbol: IFT52
reactome: R-HSA-5610787;R-HSA-5620924;
name: Intraflagellar transport protein 52 homolog (Protein NGD5 homolog)
length: 437
go: ENSG00000101052;
snps: rs886037869
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q62559}.
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary base [GO:0097546]; ciliary tip [GO:0097542]; cilium [GO:0005929]; dendrite terminus [GO:0044292]; intraciliary transport particle B [GO:0030992]; motile cilium [GO:0031514]; photoreceptor connecting cilium [GO:0032391]; protein C-terminus binding [GO:0008022]; cilium assembly [GO:0060271]; dorsal/ventral pattern formation [GO:0009953]; embryonic digit morphogenesis [GO:0042733]; heart looping [GO:0001947]; intraciliary anterograde transport [GO:0035720]; intraciliary transport involved in cilium assembly [GO:0035735]; negative regulation of epithelial cell proliferation [GO:0050680]; neural tube formation [GO:0001841]; non-motile cilium assembly [GO:1905515]; regulation of protein processing [GO:0070613]; smoothened signaling pathway [GO:0007224]


uniprotID: O15303
geneSymbol: GRM6
reactome: R-HSA-418594;R-HSA-420499;
name: Metabotropic glutamate receptor 6 (mGluR6)
length: 877
go: ENSG00000113262;
sequence:

opentargets:
dendrite [GO:0030425]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; G protein-coupled receptor activity [GO:0004930]; glutamate receptor activity [GO:0008066]; protein homodimerization activity [GO:0042803]; adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway [GO:0007196]; detection of light stimulus involved in visual perception [GO:0050908]; detection of visible light [GO:0009584]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of calcium ion import [GO:0090280]; regulation of synaptic transmission, glutamatergic [GO:0051966]

snps:
rs62638197 rs62638198 rs2645329 rs62638202 rs17078898 rs17078896 rs121434304 rs62638208 rs17078877 rs62638625 rs17078874 rs17078857 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17405131}; Multi-pass membrane protein {ECO:0000269|PubMed:17405131}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:17405131}; Multi-pass membrane protein {ECO:0000269|PubMed:17405131}. Golgi apparatus membrane {ECO:0000269|PubMed:17405131}; Multi-pass membrane protein {ECO:0000269|PubMed:17405131}. Cell projection, dendrite {ECO:0000250}. Note=Subject to trafficking from the endoplasmic reticulum to the Golgi apparatus and then to the cell membrane.


uniprotID: Q8IYS0
geneSymbol: GRAMD1C
name: GRAM domain-containing protein 1C
length: 662
go: ENSG00000178075;
opentargets: integral component of membrane [GO:0016021]
snps: rs17853381
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYS0-1; Sequence=Displayed; Name=2; IsoId=Q8IYS0-2; Sequence=VSP_025477; 


uniprotID: Q14416
geneSymbol: GRM2
reactome: R-HSA-418594;R-HSA-420499;
pdb: 4XAQ;4XAS;5CNI;5CNJ;5KZN;5KZQ;
name: Metabotropic glutamate receptor 2 (mGluR2)
length: 872
go: ENSG00000164082;
drug: DB05096;
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; calcium channel regulator activity [GO:0005246]; G protein-coupled receptor activity [GO:0004930]; glutamate receptor activity [GO:0008066]; group II metabotropic glutamate receptor activity [GO:0001641]; chemical synaptic transmission [GO:0007268]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; G protein-coupled receptor signaling pathway [GO:0007186]; glutamate homeostasis [GO:0090461]; glutamate secretion [GO:0014047]; negative regulation of adenylate cyclase activity [GO:0007194]; regulation of synaptic transmission, glutamatergic [GO:0051966]

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, synapse {ECO:0000250}. Cell projection, dendrite {ECO:0000250}.


uniprotID: Q14832
geneSymbol: GRM3
reactome: R-HSA-418594;R-HSA-420499;
pdb: 1S8M;3SM9;4XAR;5CNK;5CNM;6B7H;
name: Metabotropic glutamate receptor 3 (mGluR3)
length: 879
go: ENSG00000198822;
drug: DB05096;
snps: rs17161026
sequence:

opentargets:
axon [GO:0030424]; dendritic spine [GO:0043197]; 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]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; calcium channel regulator activity [GO:0005246]; G protein-coupled receptor activity [GO:0004930]; glutamate receptor activity [GO:0008066]; group II metabotropic glutamate receptor activity [GO:0001641]; chemical synaptic transmission [GO:0007268]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of adenylate cyclase activity [GO:0007194]; regulation of synaptic transmission, glutamatergic [GO:0051966]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14832-1; Sequence=Displayed; Name=2; Synonyms=GRM3Delta4; IsoId=Q14832-2; Sequence=VSP_047679, VSP_047680; Note=Appears to be membrane-associated, despite the absence of the seven-transmembrane domain.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8840013}; Multi-pass membrane protein {ECO:0000269|PubMed:8840013}.


uniprotID: Q7LDG7
geneSymbol: RASGRP2
reactome: R-HSA-114508;R-HSA-2871837;R-HSA-354192;R-HSA-392517;
pdb: 2MA2;6AXF;
length: 609
go: ENSG00000068831;
snps: rs587777529 rs767965347 rs2301562
name:
RAS guanyl-releasing protein 2 (Calcium and DAG-regulated guanine nucleotide exchange factor I) (CalDAG-GEFI) (Cdc25-like protein) (hCDC25L) (F25B3.3 kinase-like protein)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; synapse [GO:0045202]; calcium ion binding [GO:0005509]; diacylglycerol binding [GO:0019992]; guanyl-nucleotide exchange factor activity [GO:0005085]; lipid binding [GO:0008289]; cellular response to calcium ion [GO:0071277]; positive regulation of GTPase activity [GO:0043547]; Ras protein signal transduction [GO:0007265]; regulation of cell growth [GO:0001558]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=CalDAG-GEFI, CalDAG-GEFIa; IsoId=Q7LDG7-1; Sequence=Displayed; Name=2; Synonyms=RasGRP2; IsoId=Q7LDG7-2; Sequence=VSP_030574; Name=3; Synonyms=CalDAG-GEFIb; IsoId=Q7LDG7-3; Sequence=VSP_030575, VSP_030576; Note=The corresponding protein is not undetectable.; Name=4; IsoId=Q7LDG7-4; Sequence=VSP_054132; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Cell junction, synapse, synaptosome {ECO:0000305}. Cell projection, ruffle membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Found both in the cytosol and associated with membranes. Isoform 2 mainly localizes to the cell membrane. Enriched at juxtamembrane areas and membrane ruffles through association with F-actin. Localizes to the cell bodies and axons of striatal neurons (By similarity). {ECO:0000250}.


uniprotID: P20809
geneSymbol: IL11
reactome: R-HSA-6788467;
pdb: 4MHL;
name: Interleukin-11 (IL-11) (Adipogenesis inhibitory factor) (AGIF) (Oprelvekin)
length: 199
go: ENSG00000095752;
snps: rs4252576 rs4252548
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:1828438, ECO:0000269|PubMed:2145578}.
sequence:
MNCVCRLVLVVLSLWPDTAVAPGPPPGPPRVSPDPRAELDSTVLLTRSLLADTRQLAAQLRDKFPADGDHNLDSLPTLAMSAGALGALQLPGVLTRLRADLLSYLRHVQWLRRAGGSSLKTLEPELGTLQARLDRLLRRLQLLMSRLALPQPPPDPPAPPLAPPSSAWGGIRAAHAILGGLHLTLDWAVRGLLLLKTRL

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; interleukin-11 receptor binding [GO:0005142]; B cell differentiation [GO:0030183]; cytokine-mediated signaling pathway [GO:0019221]; fat cell differentiation [GO:0045444]; megakaryocyte differentiation [GO:0030219]; negative regulation of hormone secretion [GO:0046888]; positive regulation of cell proliferation [GO:0008284]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P20809-1; Sequence=Displayed; Name=2; IsoId=P20809-2; Sequence=VSP_046936; 


uniprotID: P29460
geneSymbol: IL12B
reactome: R-HSA-6783783;R-HSA-6785807;R-HSA-9020591;R-HSA-9020933;
pdb: 1F42;1F45;3D85;3D87;3DUH;3HMX;3QWR;4GRW;5MJ3;5MJ4;5MXA;5MZV;5NJD;
length: 328
go: ENSG00000113302;
drug: DB02763;DB05459;DB05848;DB05679;
snps: rs3213096 rs3213119
location: SUBCELLULAR LOCATION: Secreted.
name:
Interleukin-12 subunit beta (IL-12B) (Cytotoxic lymphocyte maturation factor 40 kDa subunit) (CLMF p40) (IL-12 subunit p40) (NK cell stimulatory factor chain 2) (NKSF2)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum lumen [GO:0005788]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; interleukin-12 complex [GO:0043514]; interleukin-23 complex [GO:0070743]; late endosome lumen [GO:0031906]; receptor complex [GO:0043235]; cytokine activity [GO:0005125]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; growth factor activity [GO:0008083]; identical protein binding [GO:0042802]; interleukin-12 alpha subunit binding [GO:0042164]; interleukin-12 receptor binding [GO:0005143]; interleukin-23 receptor binding [GO:0045519]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; cell cycle arrest [GO:0007050]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cellular response to interferon-gamma [GO:0071346]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; defense response to Gram-negative bacterium [GO:0050829]; defense response to protozoan [GO:0042832]; defense response to virus [GO:0051607]; interferon-gamma biosynthetic process [GO:0042095]; interleukin-12-mediated signaling pathway [GO:0035722]; interleukin-23-mediated signaling pathway [GO:0038155]; natural killer cell activation [GO:0030101]; natural killer cell activation involved in immune response [GO:0002323]; negative regulation of growth of symbiont in host [GO:0044130]; negative regulation of inflammatory response to antigenic stimulus [GO:0002862]; negative regulation of interleukin-10 production [GO:0032693]; negative regulation of interleukin-17 production [GO:0032700]; negative regulation of smooth muscle cell proliferation [GO:0048662]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of activation of Janus kinase activity [GO:0010536]; positive regulation of cell adhesion [GO:0045785]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of granulocyte macrophage colony-stimulating factor production [GO:0032725]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interferon-gamma biosynthetic process [GO:0045078]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-17 production [GO:0032740]; positive regulation of lymphocyte proliferation [GO:0050671]; positive regulation of memory T cell differentiation [GO:0043382]; positive regulation of mononuclear cell proliferation [GO:0032946]; positive regulation of natural killer cell activation [GO:0032816]; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target [GO:0002860]; positive regulation of natural killer cell proliferation [GO:0032819]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of NK T cell activation [GO:0051135]; positive regulation of NK T cell proliferation [GO:0051142]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of smooth muscle cell apoptotic process [GO:0034393]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of T-helper 1 type immune response [GO:0002827]; positive regulation of T-helper 17 cell lineage commitment [GO:2000330]; positive regulation of T-helper 17 type immune response [GO:2000318]; positive regulation of tissue remodeling [GO:0034105]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of cytokine biosynthetic process [GO:0042035]; regulation of tyrosine phosphorylation of STAT protein [GO:0042509]; response to UV-B [GO:0010224]; sensory perception of pain [GO:0019233]; sexual reproduction [GO:0019953]; T-helper 1 cell cytokine production [GO:0035744]; T-helper 1 type immune response [GO:0042088]; T-helper cell differentiation [GO:0042093]


uniprotID: Q9P0M4
geneSymbol: IL17C
reactome: R-HSA-448424;
name: Interleukin-17C (IL-17C) (Cytokine CX2)
length: 197
go: ENSG00000124391;
snps: rs11465492
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MTLLPGLLFLTWLHTCLAHHDPSLRGHPHSHGTPHCYSAEELPLGQAPPHLLARGAKWGQALPVALVSSLEAASHRGRHERPSATTQCPVLRPEEVLEADTHQRSISPWRYRVDTDEDRYPQKLAFAECLCRGCIDARTGRETAALNSVRLLQSLLVLRRRPCSRDGSGLPTPGAFAFHTEFIHVPVGCTCVLPRSV

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; inflammatory response [GO:0006954]; interleukin-17-mediated signaling pathway [GO:0097400]


uniprotID: Q8TAD2
geneSymbol: IL17D
name: Interleukin-17D (IL-17D) (Interleukin-27) (IL-27)
length: 202
go: ENSG00000172458;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; protein homodimerization activity [GO:0042803]; receptor ligand activity [GO:0048018]; inflammatory response [GO:0006954]; negative regulation of hemopoiesis [GO:1903707]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]; positive regulation of granulocyte macrophage colony-stimulating factor production [GO:0032725]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-8 production [GO:0032757]


uniprotID: Q96PD4
geneSymbol: IL17F
reactome: R-HSA-448424;R-HSA-6785807;
pdb: 1JPY;3JVF;5N92;5NAN;
name: Interleukin-17F (IL-17F) (Cytokine ML-1)
length: 163
go: ENSG00000112116;
snps: rs748486078 rs2397084 rs11465553 rs763780
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MTVKTLHGPAMVKYLLLSILGLAFLSEAAARKIPKVGHTFFQKPESCPPVPGGSMKLDIGIINENQRVSMSRNIESRSTSPWNYTVTWDPNRYPSEVVQAQCRNLGCINAQGKEDISMNSVPIQQETLVVRRKHQGCSVSFQLEKVLVTVGCTCVTPVIHHVQ

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; cytokine binding [GO:0019955]; cytokine receptor binding [GO:0005126]; protein homodimerization activity [GO:0042803]; cartilage development [GO:0051216]; cytokine biosynthetic process [GO:0042089]; cytokine-mediated signaling pathway [GO:0019221]; inflammatory response [GO:0006954]; interleukin-17-mediated signaling pathway [GO:0097400]; lymphotoxin A biosynthetic process [GO:0042109]; negative regulation of angiogenesis [GO:0016525]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of granulocyte macrophage colony-stimulating factor biosynthetic process [GO:0045423]; regulation of interleukin-2 biosynthetic process [GO:0045076]; regulation of interleukin-6 biosynthetic process [GO:0045408]; regulation of interleukin-8 biosynthetic process [GO:0045414]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]


uniprotID: P01584
geneSymbol: IL1B
reactome: R-HSA-448706;R-HSA-5660668;R-HSA-6783783;R-HSA-6785807;R-HSA-9020702;
name: Interleukin-1 beta (IL-1 beta) (Catabolin)
length: 269
go: ENSG00000125538;
snps: rs144640380
pdb:
1HIB;1I1B;1IOB;1ITB;1L2H;1S0L;1T4Q;1TOO;1TP0;1TWE;1TWM;21BI;2I1B;2KH2;2NVH;31BI;3LTQ;3O4O;3POK;41BI;4DEP;4G6J;4G6M;4GAF;4GAI;4I1B;5BVP;5I1B;5MVZ;6I1B;7I1B;9ILB;

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosome [GO:0005764]; secretory granule [GO:0030141]; cytokine activity [GO:0005125]; integrin binding [GO:0005178]; interleukin-1 receptor binding [GO:0005149]; protein domain specific binding [GO:0019904]; activation of MAPK activity [GO:0000187]; apoptotic process [GO:0006915]; cell-cell signaling [GO:0007267]; cellular response to antibiotic [GO:0071236]; cellular response to drug [GO:0035690]; cellular response to fatty acid [GO:0071398]; cellular response to glucose stimulus [GO:0071333]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to mechanical stimulus [GO:0071260]; cellular response to organic cyclic compound [GO:0071407]; cellular response to organic substance [GO:0071310]; chronic inflammatory response to antigenic stimulus [GO:0002439]; cytokine-mediated signaling pathway [GO:0019221]; ectopic germ cell programmed cell death [GO:0035234]; embryo implantation [GO:0007566]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; fever generation [GO:0001660]; hyaluronan biosynthetic process [GO:0030213]; inflammatory response [GO:0006954]; interleukin-1 beta production [GO:0032611]; interleukin-1-mediated signaling pathway [GO:0070498]; interleukin-6 production [GO:0032635]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; MAPK cascade [GO:0000165]; memory [GO:0007613]; monocyte aggregation [GO:0070487]; negative regulation of adiponectin secretion [GO:0070164]; negative regulation of branching morphogenesis of a nerve [GO:2000173]; negative regulation of cell proliferation [GO:0008285]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of glucose transmembrane transport [GO:0010829]; negative regulation of glutamate secretion [GO:0014050]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of lipid catabolic process [GO:0050995]; negative regulation of lipid metabolic process [GO:0045833]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of neural precursor cell proliferation [GO:2000178]; negative regulation of neurogenesis [GO:0050768]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of synaptic transmission [GO:0050805]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neutrophil chemotaxis [GO:0030593]; ovulation [GO:0030728]; positive regulation of angiogenesis [GO:0045766]; positive regulation of astrocyte differentiation [GO:0048711]; positive regulation of calcidiol 1-monooxygenase activity [GO:0060559]; positive regulation of cell adhesion molecule production [GO:0060355]; positive regulation of cell division [GO:0051781]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chemokine biosynthetic process [GO:0045080]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of estradiol secretion [GO:2000866]; positive regulation of fever generation [GO:0031622]; positive regulation of gene expression [GO:0010628]; positive regulation of glial cell differentiation [GO:0045687]; positive regulation of glial cell proliferation [GO:0060252]; positive regulation of granulocyte macrophage colony-stimulating factor production [GO:0032725]; positive regulation of heterotypic cell-cell adhesion [GO:0034116]; positive regulation of histone acetylation [GO:0035066]; positive regulation of histone phosphorylation [GO:0033129]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of immature T cell proliferation in thymus [GO:0033092]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of interleukin-6 biosynthetic process [GO:0045410]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of JNK cascade [GO:0046330]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of lipid catabolic process [GO:0050996]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of monocyte chemotactic protein-1 production [GO:0071639]; positive regulation of myosin light chain kinase activity [GO:0035505]; positive regulation of neuroinflammatory response [GO:0150078]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of phagocytosis [GO:0050766]; positive regulation of prostaglandin secretion [GO:0032308]; positive regulation of protein export from nucleus [GO:0046827]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of T cell mediated immunity [GO:0002711]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of T-helper 1 cell cytokine production [GO:2000556]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular endothelial growth factor production [GO:0010575]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; protein kinase B signaling [GO:0043491]; regulation of defense response to virus by host [GO:0050691]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of establishment of endothelial barrier [GO:1903140]; regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043122]; regulation of insulin secretion [GO:0050796]; regulation of neurogenesis [GO:0050767]; regulation of nitric-oxide synthase activity [GO:0050999]; response to ATP [GO:0033198]; response to dexamethasone [GO:0071548]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to gamma radiation [GO:0010332]; response to glucocorticoid [GO:0051384]; response to heat [GO:0009408]; response to hypoxia [GO:0001666]; response to immobilization stress [GO:0035902]; response to L-ascorbic acid [GO:0033591]; response to morphine [GO:0043278]; response to organic cyclic compound [GO:0014070]; response to ozone [GO:0010193]; response to peptide hormone [GO:0043434]; response to stilbenoid [GO:0035634]; response to vitamin D [GO:0033280]; sequestering of triglyceride [GO:0030730]; signal transduction [GO:0007165]; smooth muscle adaptation [GO:0014805]; social behavior [GO:0035176]; wound healing [GO:0042060]

drug:
DB05250;DB05066;DB06168;DB05442;DB05260;DB05767;DB01017;DB06372;DB05412;DB05133;DB05470;DB05507;DB06062;

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15192144}. Lysosome {ECO:0000269|PubMed:15192144}. Secreted, exosome {ECO:0000250|UniProtKB:P10749}. Secreted {ECO:0000269|PubMed:11728343, ECO:0000269|PubMed:15192144}. Note=The precursor is cytosolic. In response to inflammasome-activating signals, such as ATP for NLRP3 inflammasome or bacterial flagellin for NLRC4 inflammasome, cleaved and secreted. IL1B lacks any known signal sequence and the pathway(s) of its secretion is(are) not yet fully understood (PubMed:24201029). On the basis of experimental results, several unconventional secretion mechanisms have been proposed. 1. Secretion via secretory lysosomes: a fraction of CASP1 and IL1B precursor may be incorporated, by a yet undefined mechanism, into secretory lysosomes that undergo Ca(2+)-dependent exocytosis with release of mature IL1B (PubMed:15192144). 2. Secretory autophagy: IL1B-containing autophagosomes may fuse with endosomes or multivesicular bodies (MVBs) and then merge with the plasma membrane releasing soluble IL1B or IL1B-containing exosomes (PubMed:24201029). However, autophagy impacts IL1B production at several levels and its role in secretion is still controversial. 3. Secretion via exosomes: ATP-activation of P2RX7 leads to the formation of MVBs containing exosomes with entrapped IL1B, CASP1 and other inflammasome components. These MVBs undergo exocytosis with the release of exosomes. The release of soluble IL1B occurs after the lysis of exosome membranes (By similarity). 4. Secretion by microvesicle shedding: activation of the ATP receptor P2RX7 may induce an immediate shedding of membrane-derived microvesicles containing IL1B and possibly inflammasome components. The cytokine is then released in the extracellular compartment after microvesicle lysis (PubMed:11728343). 5. Release by translocation through permeabilized plasma membrane. This may occur in cells undergoing pyroptosis due to sustained activation of the inflammasome (By similarity). These mechanisms may not be not mutually exclusive. {ECO:0000250|UniProtKB:P10749, ECO:0000269|PubMed:11728343, ECO:0000269|PubMed:15192144, ECO:0000305|PubMed:24201029}.


uniprotID: O15499
geneSymbol: GSC2
name: Homeobox protein goosecoid-2 (GSC-2) (Homeobox protein goosecoid-like) (GSC-L)
length: 205
go: ENSG00000063515;
snps: rs34341950
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
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]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P56915
geneSymbol: GSC
pdb: 2DMU;
name: Homeobox protein goosecoid
length: 257
go: ENSG00000133937;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nuclear body [GO:0016604]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II repressing transcription factor binding [GO:0001103]; RNA polymerase II transcription factor binding [GO:0001085]; dorsal/ventral neural tube patterning [GO:0021904]; embryonic skeletal system morphogenesis [GO:0048704]; forebrain development [GO:0030900]; gastrulation [GO:0007369]; middle ear morphogenesis [GO:0042474]; muscle organ morphogenesis [GO:0048644]; negative regulation of Wnt signaling pathway [GO:0030178]; neural crest cell fate specification [GO:0014036]; signal transduction involved in regulation of gene expression [GO:0023019]


uniprotID: Q6UXU4
geneSymbol: GSG1L
name: Germ cell-specific gene 1-like protein (GSG1-like protein)
length: 331
go: ENSG00000169181;
sequence:

opentargets:
cell junction [GO:0030054]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; regulation of AMPA receptor activity [GO:2000311]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6UXU4-1; Sequence=Displayed; Name=2; IsoId=Q6UXU4-3; Sequence=VSP_033004; Name=3; IsoId=Q6UXU4-4; Sequence=VSP_033516, VSP_033517; Name=4; IsoId=Q6UXU4-2; Sequence=VSP_033516; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}.


uniprotID: Q8TAX9
geneSymbol: GSDMB
pdb: 5TIB;5TJ2;5TJ4;
name: Gasdermin-B (Gasdermin-like protein)
length: 411
go: ENSG00000073605;
snps: rs12450091 rs4619433 rs2305479 rs2305480 rs16965388
sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylserine binding [GO:0001786]; pyroptosis [GO:0070269]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Isoforms expression varies between tumor and non-tumor cells and changes in the regulation of isoforms transcription and translation may be seen in the development of gastrointestinal and hepatic cancers.; Name=1; IsoId=Q8TAX9-1; Sequence=Displayed; Name=2; IsoId=Q8TAX9-2; Sequence=VSP_032937; Name=3; IsoId=Q8TAX9-3; Sequence=VSP_032938; Name=4; IsoId=Q8TAX9-4; Sequence=VSP_032939, VSP_032940; Name=5; IsoId=Q8TAX9-5; Sequence=VSP_032936; Note=No experimental confirmation available.; Name=6; IsoId=Q8TAX9-6; Sequence=VSP_032939; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18038310}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:P57764}. Cell membrane {ECO:0000250|UniProtKB:P57764}. Note=Vesicular localization in the apical region of gastric chief cells and colonic surface mucous cells, and the basal region of neuroendocrine cells. {ECO:0000269|PubMed:18038310}.


uniprotID: Q2KHT4
geneSymbol: GSG1
name: Germ cell-specific gene 1 protein
length: 349
go: ENSG00000111305;
snps: rs2306765 rs11546332
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; RNA polymerase binding [GO:0070063]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q2KHT4-1; Sequence=Displayed; Name=2; IsoId=Q2KHT4-2; Sequence=VSP_032997; Name=3; IsoId=Q2KHT4-3; Sequence=VSP_032993; Name=4; IsoId=Q2KHT4-4; Sequence=VSP_032993, VSP_032994; Name=5; IsoId=Q2KHT4-5; Sequence=VSP_032993, VSP_032997; Name=6; IsoId=Q2KHT4-6; Sequence=VSP_032992, VSP_032993; Name=7; IsoId=Q2KHT4-7; Sequence=VSP_032992, VSP_032995; Name=8; IsoId=Q2KHT4-8; Sequence=VSP_032993, VSP_032996; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Colocalizes with PAPOLB in the endoplasmic reticulum. {ECO:0000250}.


uniprotID: P57764
geneSymbol: GSDMD
reactome: R-HSA-6798695;
pdb: 5NH1;5WQT;6AO4;
length: 484
go: ENSG00000104518;
name:
Gasdermin-D (Gasdermin domain-containing protein 1) [Cleaved into: Gasdermin-D, N-terminal (GSDMD-NT); Gasdermin-D, C-terminal (GSDMD-CT)]

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; NLRP3 inflammasome complex [GO:0072559]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; cardiolipin binding [GO:1901612]; phosphatidic acid binding [GO:0070300]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylserine binding [GO:0001786]; cellular response to extracellular stimulus [GO:0031668]; cytolysis [GO:0019835]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; neutrophil degranulation [GO:0043312]; pore complex assembly [GO:0046931]; pore formation in membrane of other organism [GO:0035915]; positive regulation of interleukin-1 beta secretion [GO:0050718]; protein homooligomerization [GO:0051260]; pyroptosis [GO:0070269]

location:
SUBCELLULAR LOCATION: Gasdermin-D: Cytoplasm, cytosol {ECO:0000269|PubMed:27281216}. Inflammasome {ECO:0000250|UniProtKB:Q9D8T2}. Note=In response to a canonical inflammasome stimulus, such as nigericin, recruited to NLRP3 inflammasone with similar kinetics to that of uncleaved CASP1 precursor. {ECO:0000250|UniProtKB:Q9D8T2}.; SUBCELLULAR LOCATION: Gasdermin-D, N-terminal: Cell membrane {ECO:0000250|UniProtKB:Q9D8T2, ECO:0000269|PubMed:27281216}. Secreted {ECO:0000250|UniProtKB:Q9D8T2}. Note=Released in the extracellular milieu following pyroptosis. {ECO:0000250|UniProtKB:Q9D8T2}.


uniprotID: P27930
geneSymbol: IL1R2
reactome: R-HSA-6783783;R-HSA-9020702;
pdb: 3O4O;
length: 398
go: ENSG00000115590;
snps: rs28385682 rs3218976
name:
Interleukin-1 receptor type 2 (IL-1R-2) (IL-1RT-2) (IL-1RT2) (CD121 antigen-like family member B) (CDw121b) (IL-1 type II receptor) (Interleukin-1 receptor beta) (IL-1R-beta) (Interleukin-1 receptor type II) (CD antigen CD121b) [Cleaved into: Interleukin-1 receptor type 2, membrane form (mIL-1R2) (mIL-1RII); Interleukin-1 receptor type 2, soluble form (sIL-1R2) (sIL-1RII)]

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; interleukin-1 binding [GO:0019966]; interleukin-1 receptor activity [GO:0004908]; interleukin-1, type II, blocking receptor activity [GO:0004910]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; interleukin-1-mediated signaling pathway [GO:0070498]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; negative regulation of interleukin-1 alpha secretion [GO:0050712]; negative regulation of interleukin-1-mediated signaling pathway [GO:2000660]; negative regulation of protein processing [GO:0010955]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P27930-1; Sequence=Displayed; Name=Short; IsoId=P27930-2; Sequence=VSP_042222; 

location:
SUBCELLULAR LOCATION: Isoform Short: Secreted {ECO:0000269|PubMed:8702856}.; SUBCELLULAR LOCATION: Isoform Long: Cell membrane; Single-pass type I membrane protein.


uniprotID: Q9NYY1
geneSymbol: IL20
reactome: R-HSA-8854691;
pdb: 4DOH;
name: Interleukin-20 (IL-20) (Cytokine Zcyto10)
length: 176
go: ENSG00000162891;
snps: rs35856950
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKASSLAFSLLSAAFYLLWTPSTGLKTLNLGSCVIATNLQEIRNGFSEIRGSVQAKDGNIDIRILRRTESLQDTKPANRCCLLRHLLRLYLDRVFKNYQTPDHYTLRKISSLANSFLTIKKDLRLCHAHMTCHCGEEAMKKYSQILSHFEKLEPQAAVVKALGELDILLQWMEETE

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; interleukin-20 receptor binding [GO:0045517]; interleukin-22 receptor binding [GO:0045518]; cytokine-mediated signaling pathway [GO:0019221]; positive regulation of epidermal cell differentiation [GO:0045606]; positive regulation of keratinocyte differentiation [GO:0045618]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of inflammatory response [GO:0050727]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=IL-20W, Wild type; IsoId=Q9NYY1-1; Sequence=Displayed; Name=2; Synonyms=IL-20S, ex4-del, Short; IsoId=Q9NYY1-2; Sequence=VSP_054904; Note=Lung-specific.; 


uniprotID: Q9HBE5
geneSymbol: IL21R
reactome: R-HSA-9020958;
pdb: 3TGX;4NZD;
name: Interleukin-21 receptor (IL-21 receptor) (IL-21R) (Novel interleukin receptor) (CD antigen CD360)
length: 538
go: ENSG00000103522;
snps: rs3093370 rs397514685 rs3093385 rs3093386
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cytokine receptor activity [GO:0004896]; interleukin-21 receptor activity [GO:0001532]; transmembrane signaling receptor activity [GO:0004888]; interleukin-21-mediated signaling pathway [GO:0038114]; natural killer cell activation [GO:0030101]


uniprotID: Q9HBE4
geneSymbol: IL21
reactome: R-HSA-9020958;
pdb: 2OQP;3TGX;
name: Interleukin-21 (IL-21) (Za11)
length: 155
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11081504}.
sequence:
MERIVICLMVIFLGTLVHKSSSQGQDRHMIRMRQLIDIVDQLKNYVNDLVPEFLPAPEDVETNCEWSAFSCFQKAQLKSANTGNNERIINVSIKKLKRKPPSTNAGRRQKHRLTCPSCDSYEKKPPKEFLERFKSLLQKMIHQHLSSRTHGSEDS

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; cytokine activity [GO:0005125]; cytokine receptor binding [GO:0005126]; interleukin-2 receptor binding [GO:0005134]; cell maturation [GO:0048469]; immune response [GO:0006955]; interleukin-21-mediated signaling pathway [GO:0038114]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytokine production [GO:0001819]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interferon-gamma biosynthetic process [GO:0045078]; positive regulation of interleukin-17 production [GO:0032740]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of tissue remodeling [GO:0034105]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; signal transduction [GO:0007165]; tyrosine phosphorylation of STAT protein [GO:0007260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HBE4-1; Sequence=Displayed; Name=2; Synonyms=IL-21iso; IsoId=Q9HBE4-2; Sequence=VSP_030129; 


uniprotID: Q9GZX6
geneSymbol: IL22
reactome: R-HSA-8854691;
pdb: 1M4R;1YKB;3DGC;3DLQ;3G9V;3Q1S;
name: Interleukin-22 (IL-22) (Cytokine Zcyto18) (IL-10-related T-cell-derived-inducible factor) (IL-TIF)
length: 179
go: ENSG00000127318;
snps: rs2227507
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MAALQKSVSSFLMGTLATSCLLLLALLVQGGAAAPISSHCRLDKSNFQQPYITNRTFMLAKEASLADNNTDVRLIGEKLFHGVSMSERCYLMKQVLNFTLEEVLFPQSDRFQPYMQEVVPFLARLSNRLSTCHIEGDDLHIQRNVQKLKDTVKKLGESGEIKAIGELDLLFMSLRNACI

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; interleukin-22 receptor binding [GO:0045518]; acute-phase response [GO:0006953]; cytokine-mediated signaling pathway [GO:0019221]; inflammatory response [GO:0006954]; response to glucocorticoid [GO:0051384]


uniprotID: Q9NPF7
geneSymbol: IL23A
reactome: R-HSA-6785807;R-HSA-9020933;
pdb: 3D85;3D87;3DUH;3QWR;4GRW;5MJ3;5MJ4;5MXA;5MZV;5NJD;
length: 189
go: ENSG00000110944;
drug: DB05459;DB05679;
name:
Interleukin-23 subunit alpha (IL-23 subunit alpha) (IL-23-A) (Interleukin-23 subunit p19) (IL-23p19)

sequence:
MLGSRAVMLLLLLPWTAQGRAVPGGSSPAWTQCQQLSQKLCTLAWSAHPLVGHMDLREEGDEETTNDVPHIQCGDGCDPQGLRDNSQFCLQRIHQGLIFYEKLLGSDIFTGEPSLLPDSPVGQLHASLLGLSQLLQPEGHHWETQQIPSLSPSQPWQRLLLRFKILRSLQAFVAVAARVFAHGAATLSP

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; interleukin-23 complex [GO:0070743]; cytokine activity [GO:0005125]; interleukin-23 receptor binding [GO:0045519]; cytokine-mediated signaling pathway [GO:0019221]; defense response to Gram-negative bacterium [GO:0050829]; defense response to virus [GO:0051607]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-23-mediated signaling pathway [GO:0038155]; negative regulation of interleukin-10 production [GO:0032693]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of activation of Janus kinase activity [GO:0010536]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of granulocyte macrophage colony-stimulating factor production [GO:0032725]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-17 production [GO:0032740]; positive regulation of memory T cell differentiation [GO:0043382]; positive regulation of natural killer cell activation [GO:0032816]; positive regulation of natural killer cell proliferation [GO:0032819]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of NK T cell activation [GO:0051135]; positive regulation of NK T cell proliferation [GO:0051142]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of T-helper 1 type immune response [GO:0002827]; positive regulation of T-helper 17 cell lineage commitment [GO:2000330]; positive regulation of T-helper 17 type immune response [GO:2000318]; positive regulation of tissue remodeling [GO:0034105]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of tyrosine phosphorylation of STAT protein [GO:0042509]; T cell proliferation [GO:0042098]; tissue remodeling [GO:0048771]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11114383}. Note=Secreted upon association with IL12B.


uniprotID: Q13007
geneSymbol: IL24
reactome: R-HSA-8854691;
pdb: 6DF3;
length: 206
go: ENSG00000162892;
snps: rs1150258 rs3093431 rs3093446
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Interleukin-24 (IL-24) (Melanoma differentiation-associated gene 7 protein) (MDA-7) (Suppression of tumorigenicity 16 protein)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; apoptotic process [GO:0006915]; cellular response to interleukin-4 [GO:0071353]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; positive regulation of cell proliferation [GO:0008284]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; serine phosphorylation of STAT protein [GO:0042501]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13007-1; Sequence=Displayed; Name=2; IsoId=Q13007-2; Sequence=VSP_042673; Name=3; IsoId=Q13007-3; Sequence=VSP_042673, VSP_042674; Note=No experimental confirmation available.; Name=4; Synonyms=mda-7s; IsoId=Q13007-4; Sequence=VSP_043915; 


uniprotID: Q8NI17
geneSymbol: IL31RA
reactome: R-HSA-6788467;
length: 732
go: ENSG00000164509;
snps: rs13184107 rs161704
name:
Interleukin-31 receptor subunit alpha (IL-31 receptor subunit alpha) (IL-31R subunit alpha) (IL-31R-alpha) (IL-31RA) (Cytokine receptor-like 3) (GLM-R) (hGLM-R) (Gp130-like monocyte receptor) (Gp130-like receptor) (ZcytoR17)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; protein kinase binding [GO:0019901]; transcription coactivator activity [GO:0003713]; acute inflammatory response to antigenic stimulus [GO:0002438]; cytokine-mediated signaling pathway [GO:0019221]; defense response [GO:0006952]; defense response to other organism [GO:0098542]; glandular epithelial cell differentiation [GO:0002067]; homeostatic process [GO:0042592]; JAK-STAT cascade [GO:0007259]; macrophage differentiation [GO:0030225]; MAPK cascade [GO:0000165]; monocyte differentiation [GO:0030224]; negative regulation of apoptotic process [GO:0043066]; negative regulation of macrophage activation [GO:0043031]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; T-helper 2 cell cytokine production [GO:0035745]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Name=1; IsoId=Q8NI17-1; Sequence=Displayed; Name=2; Synonyms=v3; IsoId=Q8NI17-2; Sequence=VSP_022799; Name=3; Synonyms=v4; IsoId=Q8NI17-3; Sequence=VSP_022800, VSP_022812, VSP_022813; Name=4; Synonyms=v2; IsoId=Q8NI17-4; Sequence=VSP_022799, VSP_022801; Name=5; Synonyms=v1; IsoId=Q8NI17-5; Sequence=VSP_022799, VSP_022812, VSP_022813; Name=6; IsoId=Q8NI17-6; Sequence=VSP_022798; Note=No experimental confirmation available.; Name=7; IsoId=Q8NI17-7; Sequence=VSP_022800, VSP_022802, VSP_022804, VSP_022805; Note=No experimental confirmation available.; Name=8; IsoId=Q8NI17-8; Sequence=VSP_022799, VSP_022803, VSP_022807; Note=No experimental confirmation available.; Name=9; Synonyms=GPL560, short; IsoId=Q8NI17-9; Sequence=VSP_022800, VSP_022806; Note=Major isoform. Dominant negative IL31 receptor.; Name=10; Synonyms=GPL610; IsoId=Q8NI17-10; Sequence=VSP_022800, VSP_022809, VSP_022810; Name=11; Synonyms=GPL626; IsoId=Q8NI17-11; Sequence=VSP_022800, VSP_022808, VSP_022811; Name=12; Synonyms=GPL745, long; IsoId=Q8NI17-12; Sequence=VSP_022800; Note=Major isoform. Functional IL31 receptor.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:11877449, ECO:0000305|PubMed:14504285}; Single-pass type I membrane protein {ECO:0000305|PubMed:11877449, ECO:0000305|PubMed:14504285}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:Q8K5B1}. Cell projection, axon {ECO:0000250|UniProtKB:Q8K5B1}.


uniprotID: P24001
geneSymbol: IL32
reactome: R-HSA-449836;
length: 234
go: ENSG00000008517;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15664165}.
name:
Interleukin-32 (IL-32) (Natural killer cells protein 4) (Tumor necrosis factor alpha-inducing factor)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; membrane [GO:0016020]; cytokine activity [GO:0005125]; cell adhesion [GO:0007155]; cytokine-mediated signaling pathway [GO:0019221]; defense response [GO:0006952]; immune response [GO:0006955]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=Gamma; IsoId=P24001-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=P24001-2; Sequence=VSP_022006; Name=3; Synonyms=Delta; IsoId=P24001-3; Sequence=VSP_022005, VSP_022006; Name=4; Synonyms=Alpha; IsoId=P24001-4; Sequence=VSP_022006, VSP_022007; Name=5; IsoId=P24001-5; Sequence=VSP_022006, VSP_043318; Note=No experimental confirmation available.; Name=6; IsoId=P24001-6; Sequence=VSP_022006, VSP_045785; Note=No experimental confirmation available.; Name=7; IsoId=P24001-7; Sequence=VSP_047855, VSP_047856; 


uniprotID: P0CG29
geneSymbol: GSTT2
reactome: R-HSA-156590;
pdb: 4MPF;
name: Glutathione S-transferase theta-2 (EC 2.5.1.18) (GST class-theta-2)
length: 244
drug: DB04132;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; glutathione transferase activity [GO:0004364]; glutathione metabolic process [GO:0006749]


uniprotID: Q9NZH6
geneSymbol: IL37
reactome: R-HSA-9008059;R-HSA-9012546;
pdb: 5HN1;
length: 218
go: ENSG00000125571;
snps: rs3811046 rs3811047 rs2708943 rs2723183 rs2723187 rs28947200 rs2708947 rs2723192
name:
Interleukin-37 (FIL1 zeta) (IL-1X) (Interleukin-1 family member 7) (IL-1F7) (Interleukin-1 homolog 4) (IL-1H) (IL-1H4) (Interleukin-1 zeta) (IL-1 zeta) (Interleukin-1-related protein) (IL-1RP1) (Interleukin-23) (IL-37)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; cytokine activity [GO:0005125]; interleukin-1 receptor binding [GO:0005149]; cellular response to cytokine stimulus [GO:0071345]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; inflammatory response [GO:0006954]; neutrophil chemotaxis [GO:0030593]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of JNK cascade [GO:0046330]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=B; Synonyms=IL-1F7b, IL-HLa; IsoId=Q9NZH6-1; Sequence=Displayed; Note=The name IL-HL refers to isoform B containing polymorphisms Val-31 and Ala-42. {ECO:0000305|PubMed:11145836}; Name=A; IsoId=Q9NZH6-2; Sequence=VSP_002653; Name=C; Synonyms=IL-HS; IsoId=Q9NZH6-3; Sequence=VSP_002656; Name=D; Synonyms=IL1F7d; IsoId=Q9NZH6-4; Sequence=VSP_002654; Name=E; Synonyms=IL1F7e; IsoId=Q9NZH6-5; Sequence=VSP_002655; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:18390730, ECO:0000269|PubMed:20935647}. Nucleus {ECO:0000269|PubMed:18390730, ECO:0000269|PubMed:20935647}. Secreted {ECO:0000269|PubMed:11145836, ECO:0000269|PubMed:18390730}. Note=Stimulation with IL1B leads to colocalization with SMAD3 mostly in perinuclear regions (PubMed:20935647). Only the CASP1-cleaved mature form translocates into the nucleus upon LPS stimulation (PubMed:18390730).


uniprotID: P26951
geneSymbol: IL3RA
reactome: R-HSA-512988;R-HSA-5673001;R-HSA-912526;
pdb: 4JZJ;5UV8;5UWC;
length: 378
go: ENSG00000185291;
drug: DB00020;
snps: rs6647004 rs17886756 rs17883572 rs17883366
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-3 receptor subunit alpha (IL-3 receptor subunit alpha) (IL-3R subunit alpha) (IL-3R-alpha) (IL-3RA) (CD antigen CD123)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; interleukin-3 receptor activity [GO:0004912]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cytokine-mediated signaling pathway [GO:0019221]; MAPK cascade [GO:0000165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=SP1; IsoId=P26951-1; Sequence=Displayed; Name=2; Synonyms=SP2; IsoId=P26951-2; Sequence=VSP_040622; 


uniprotID: Q6UX52
geneSymbol: C17orf99
name: Protein IL-40 (Interleukin-40) (IL-40)
length: 265
go: ENSG00000187997;
snps: rs4789017
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:28978694}.
sequence:

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; adaptive immune response [GO:0002250]; mature B cell differentiation involved in immune response [GO:0002313]; positive regulation of immunoglobulin production in mucosal tissue [GO:2000558]


uniprotID: Q8NEC7
geneSymbol: GSTCD
name: Glutathione S-transferase C-terminal domain-containing protein
length: 633
go: ENSG00000138780;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24058608}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NEC7-1; Sequence=Displayed; Name=2; IsoId=Q8NEC7-3; Sequence=VSP_045228; Note=No experimental confirmation available.; 


uniprotID: P49841
geneSymbol: GSK3B
length: 420
go: ENSG00000082701;
drug: DB08073;DB07859;DB04014;DB01793;DB02052;DB07947;DB01356;DB04395;DB02010;
reactome:
R-HSA-195253;R-HSA-196299;R-HSA-198323;R-HSA-3371453;R-HSA-399956;R-HSA-4641262;R-HSA-5250924;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5610783;R-HSA-5610785;R-HSA-5674400;R-HSA-69229;R-HSA-8939902;

pdb:
1GNG;1H8F;1I09;1J1B;1J1C;1O6K;1O6L;1O9U;1PYX;1Q3D;1Q3W;1Q41;1Q4L;1Q5K;1R0E;1UV5;2JDO;2JDR;2JLD;2O5K;2OW3;2UW9;2X39;2XH5;3CQU;3CQW;3DU8;3E87;3E88;3E8D;3F7Z;3F88;3GB2;3I4B;3L1S;3M1S;3MV5;3OW4;3PUP;3Q3B;3QKK;3SAY;3SD0;3ZDI;3ZRK;3ZRL;3ZRM;4ACC;4ACD;4ACG;4ACH;4AFJ;4B7T;4DIT;4EKK;4IQ6;4J1R;4J71;4NM0;4NM3;4NM5;4NM7;4PTC;4PTE;4PTG;5F94;5F95;5HLN;5HLP;5K5N;5KPK;5KPL;5KPM;5OY4;5T31;6B8J;6GN1;

name:
Glycogen synthase kinase-3 beta (GSK-3 beta) (EC 2.7.11.26) (Serine/threonine-protein kinase GSK3B) (EC 2.7.11.1)

sequence:

opentargets:
axon [GO:0030424]; beta-catenin destruction complex [GO:0030877]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; Wnt signalosome [GO:1990909]; ATP binding [GO:0005524]; beta-catenin binding [GO:0008013]; dynactin binding [GO:0034452]; kinase activity [GO:0016301]; NF-kappaB binding [GO:0051059]; p53 binding [GO:0002039]; protease binding [GO:0002020]; protein kinase A catalytic subunit binding [GO:0034236]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase II transcription factor binding [GO:0001085]; tau-protein kinase activity [GO:0050321]; ubiquitin protein ligase binding [GO:0031625]; beta-catenin destruction complex assembly [GO:1904885]; beta-catenin destruction complex disassembly [GO:1904886]; cellular response to amyloid-beta [GO:1904646]; cellular response to interleukin-3 [GO:0036016]; circadian rhythm [GO:0007623]; dopamine receptor signaling pathway [GO:0007212]; epithelial to mesenchymal transition [GO:0001837]; ER overload response [GO:0006983]; establishment of cell polarity [GO:0030010]; excitatory postsynaptic potential [GO:0060079]; extrinsic apoptotic signaling pathway [GO:0097191]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; glycogen metabolic process [GO:0005977]; hippocampus development [GO:0021766]; intracellular signal transduction [GO:0035556]; maintenance of cell polarity [GO:0030011]; negative regulation of apoptotic process [GO:0043066]; negative regulation of calcineurin-NFAT signaling cascade [GO:0070885]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of dopaminergic neuron differentiation [GO:1904339]; negative regulation of glycogen (starch) synthase activity [GO:2000466]; negative regulation of glycogen biosynthetic process [GO:0045719]; negative regulation of neuron death [GO:1901215]; negative regulation of phosphoprotein phosphatase activity [GO:0032515]; negative regulation of protein acetylation [GO:1901984]; negative regulation of protein binding [GO:0032091]; negative regulation of protein complex assembly [GO:0031333]; negative regulation of protein localization to nucleus [GO:1900181]; negative regulation of type B pancreatic cell development [GO:2000077]; neuron projection development [GO:0031175]; neuron projection retraction [GO:0106028]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of gene expression [GO:0010628]; positive regulation of GTPase activity [GO:0043547]; positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901030]; positive regulation of mitochondrion organization [GO:0010822]; positive regulation of neuron death [GO:1901216]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein binding [GO:0032092]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of protein export from nucleus [GO:0046827]; positive regulation of protein localization to centrosome [GO:1904781]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of axon extension [GO:0030516]; regulation of axonogenesis [GO:0050770]; regulation of cellular response to heat [GO:1900034]; regulation of dendrite morphogenesis [GO:0048814]; regulation of microtubule cytoskeleton organization [GO:0070507]; regulation of microtubule-based process [GO:0032886]; regulation of synaptic vesicle exocytosis [GO:2000300]; superior temporal gyrus development [GO:0071109]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=GSK-3beta1; IsoId=P49841-1; Sequence=Displayed; Name=2; Synonyms=GSK-3beta2, neuron-specific; IsoId=P49841-2; Sequence=VSP_004790; Note=May play a specific role in axon growth and neurite outgrowth. Reduced binding to AXIN1, reduced ability to phosphorylate MAPT/TAU. {ECO:0000269|PubMed:20067585}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25169422}. Nucleus. Cell membrane. Note=The phosphorylated form shows localization to cytoplasm and cell membrane. The MEMO1-RHOA-DIAPH1 signaling pathway controls localization of the phosphorylated form to the cell membrane.


uniprotID: P05113
geneSymbol: IL5
reactome: R-HSA-512988;R-HSA-5673001;R-HSA-912526;
pdb: 1HUL;3QT2;3VA2;
length: 134
go: ENSG00000113525;
drug: DB06612;DB01411;
location: SUBCELLULAR LOCATION: Secreted.
name:
Interleukin-5 (IL-5) (B-cell differentiation factor I) (Eosinophil differentiation factor) (T-cell replacing factor) (TRF)

sequence:
MRMLLHLSLLALGAAYVYAIPTEIPTSALVKETLALLSTHRTLLIANETLRIPVPVHKNHQLCTEEIFQGIGTLESQTVQGGTVERLFKNLSLIKKYIDGQKKKCGEERRRVNQFLDYLQEFLGVMNTEWIIES

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; interleukin-5 receptor binding [GO:0005137]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; inflammatory response [GO:0006954]; MAPK cascade [GO:0000165]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of eosinophil differentiation [GO:0045645]; positive regulation of immunoglobulin secretion [GO:0051024]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of podosome assembly [GO:0071803]; positive regulation of transcription, DNA-templated [GO:0045893]


uniprotID: P0CG30
geneSymbol: GSTT2B
reactome: R-HSA-156590;
pdb: 1LJR;2LJR;3LJR;4MPG;
length: 244
go: ENSG00000133433;
snps: rs1622002
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Glutathione S-transferase theta-2B (EC 2.5.1.18) (GST class-theta-2) (Glutathione S-transferase theta-2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; glutathione transferase activity [GO:0004364]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]


uniprotID: P15248
geneSymbol: IL9
reactome: R-HSA-8985947;
name: Interleukin-9 (IL-9) (Cytokine P40) (T-cell growth factor P40)
length: 144
go: ENSG00000145839;
snps: rs2069885
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MLLAMVLTSALLLCSVAGQGCPTLAGILDINFLINKMQEDPASKCHCSANVTSCLCLGIPSDNCTRPCFSERLSQMTNTTMQTRYPLIFSRVKKSVEVLKNNKCPYFSCEQPCNQTTAGNALTFLKSLLEIFQKEKMRGMRGKI

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; interleukin-9 receptor binding [GO:0005140]; immune response [GO:0006955]; inflammatory response [GO:0006954]; interleukin-9-mediated signaling pathway [GO:0038113]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of interleukin-5 biosynthetic process [GO:0045407]


uniprotID: Q8IYK4
geneSymbol: COLGALT2
reactome: R-HSA-1650814;
length: 626
go: ENSG00000198756;
opentargets: endoplasmic reticulum lumen [GO:0005788]; procollagen galactosyltransferase activity [GO:0050211]
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
name:
Procollagen galactosyltransferase 2 (EC 2.4.1.50) (Collagen beta(1-O)galactosyltransferase 2) (ColGalT 2) (Glycosyltransferase 25 family member 2) (Hydroxylysine galactosyltransferase 2)

sequence:


uniprotID: Q5T4B2
geneSymbol: CERCAM
name: Inactive glycosyltransferase 25 family member 3 (Cerebral endothelial cell adhesion molecule)
length: 595
go: ENSG00000167123;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; leukocyte cell-cell adhesion [GO:0007159]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T4B2-1; Sequence=Displayed; Name=2; IsoId=Q5T4B2-2; Sequence=VSP_029234; 


uniprotID: Q9UHL9
geneSymbol: GTF2IRD1
pdb: 2D99;2DN5;2DZQ;2DZR;
length: 959
go: ENSG00000006704;
snps: rs2301895
location: SUBCELLULAR LOCATION: Nucleus.
name:
General transcription factor II-I repeat domain-containing protein 1 (GTF2I repeat domain-containing protein 1) (General transcription factor III) (MusTRD1/BEN) (Muscle TFII-I repeat domain-containing protein 1) (Slow-muscle-fiber enhancer-binding protein) (USE B1-binding protein) (Williams-Beuren syndrome chromosomal region 11 protein) (Williams-Beuren syndrome chromosomal region 12 protein)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; multicellular organism development [GO:0007275]; regulation of transcription, DNA-templated [GO:0006355]; transcription by RNA polymerase II [GO:0006366]; transition between slow and fast fiber [GO:0014886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UHL9-1; Sequence=Displayed; Name=2; IsoId=Q9UHL9-2; Sequence=VSP_003873; Name=3; IsoId=Q9UHL9-3; Sequence=VSP_043425, VSP_003873; 


uniprotID: Q12905
geneSymbol: ILF2
reactome: R-HSA-6798695;
name: Interleukin enhancer-binding factor 2 (Nuclear factor of activated T-cells 45 kDa)
length: 390
go: ENSG00000143621;
sequence:

opentargets:
extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; double-stranded RNA binding [GO:0003725]; RNA binding [GO:0003723]; transferase activity [GO:0016740]; neutrophil degranulation [GO:0043312]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription, DNA-templated [GO:0006351]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus. Cytoplasm. Nucleus. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.


uniprotID: Q86UP8
geneSymbol: GTF2IRD2
length: 949
go: ENSG00000196275;
opentargets: nucleus [GO:0005634]; DNA binding [GO:0003677]; transition between fast and slow fiber [GO:0014883]
snps: rs2529318
location: SUBCELLULAR LOCATION: Nucleus.
name:
General transcription factor II-I repeat domain-containing protein 2A (GTF2I repeat domain-containing protein 2A) (Transcription factor GTF2IRD2-alpha)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q86UP8-1; Sequence=Displayed; Name=2; IsoId=Q86UP8-2; Sequence=VSP_031600; Name=3; IsoId=Q86UP8-3; Sequence=VSP_031603, VSP_031604; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q86UP8-4; Sequence=VSP_031598, VSP_031599; Name=5; IsoId=Q86UP8-5; Sequence=VSP_031601, VSP_031602; Name=6; IsoId=Q86UP8-6; Sequence=VSP_031597; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q12906
geneSymbol: ILF3
pdb: 2L33;3P1X;
length: 894
go: ENSG00000129351;
snps: rs1064493 rs34520379
name:
Interleukin enhancer-binding factor 3 (Double-stranded RNA-binding protein 76) (DRBP76) (M-phase phosphoprotein 4) (MPP4) (Nuclear factor associated with dsRNA) (NFAR) (Nuclear factor of activated T-cells 90 kDa) (NF-AT-90) (Translational control protein 80) (TCP80)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; AU-rich element binding [GO:0017091]; DNA binding [GO:0003677]; double-stranded RNA binding [GO:0003725]; RNA binding [GO:0003723]; single-stranded RNA binding [GO:0003727]; defense response to virus [GO:0051607]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of translation [GO:0017148]; negative regulation of viral genome replication [GO:0045071]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=NFAR-2, ILF3-E; IsoId=Q12906-1; Sequence=Displayed; Name=2; Synonyms=NFAR-1, DRBP76; IsoId=Q12906-2; Sequence=VSP_003888, VSP_003889; Name=3; IsoId=Q12906-3; Sequence=VSP_003890, VSP_003891; Note=Dubious isoform produced through aberrant splice sites.; Name=4; Synonyms=DRBP76 Alpha, ILF3-A; IsoId=Q12906-4; Sequence=VSP_003883, VSP_003884, VSP_003885; Name=5; Synonyms=DRBP76 Delta, Gamma, ILF3-C; IsoId=Q12906-5; Sequence=VSP_003886, VSP_003887; Name=6; IsoId=Q12906-6; Sequence=VSP_003883, VSP_003888, VSP_003889; Name=7; IsoId=Q12906-7; Sequence=VSP_003883; Note=Gene prediction based on EST data. {ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:19690332}; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:26240280}. Cytoplasm {ECO:0000269|PubMed:28625552}. Nucleus {ECO:0000269|PubMed:10749851, ECO:0000269|PubMed:26240280, ECO:0000269|PubMed:28625552}. Note=Localizes in the cytoplasm in response to viral infection. The unphosphorylated form is retained in the nucleus by ILF2. Phosphorylation at Thr-188 and Thr-315 causes the dissociation of ILF2 from the ILF2-ILF3 complex resulting in a cytoplasmic sequestration of ILF3. Localized in cytoplasmic mRNP granules containing untranslated mRNAs. {ECO:0000269|PubMed:21123651}.


uniprotID: Q9BX10
geneSymbol: GTPBP2
reactome: R-HSA-114608;
name: GTP-binding protein 2
length: 602
go: ENSG00000172432;
sequence:

opentargets:
extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; platelet alpha granule lumen [GO:0031093]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; translation elongation factor activity [GO:0003746]; platelet degranulation [GO:0002576]; translational elongation [GO:0006414]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1 {ECO:0000269|PubMed:10833435}; IsoId=Q9BX10-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:11054535}; IsoId=Q9BX10-2; Sequence=VSP_052154; Name=3 {ECO:0000269|PubMed:14702039}; IsoId=Q9BX10-3; Sequence=VSP_052154, VSP_052156; Note=No experimental confirmation available. {ECO:0000305}; Name=4 {ECO:0000269|PubMed:14574404}; IsoId=Q9BX10-4; Sequence=VSP_052155; Note=Gene prediction based upon EST data. {ECO:0000305}; 


uniprotID: Q969Y2
geneSymbol: GTPBP3
reactome: R-HSA-6787450;
length: 492
go: ENSG00000130299;
snps: rs730880255 rs373370177 rs778983997 rs3810206 rs372174278 rs886037735 rs3745193 rs886037734
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12370316}.
name:
tRNA modification GTPase GTPBP3, mitochondrial (GTP-binding protein 3) (Mitochondrial GTP-binding protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; tRNA methylation [GO:0030488]; tRNA wobble uridine modification [GO:0002098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=V; IsoId=Q969Y2-1; Sequence=Displayed; Name=2; IsoId=Q969Y2-2; Sequence=VSP_023583; Name=3; Synonyms=IV; IsoId=Q969Y2-3; Sequence=VSP_023584; Name=4; IsoId=Q969Y2-4; Sequence=VSP_045050; Note=No experimental confirmation available.; 


uniprotID: Q01638
geneSymbol: IL1RL1
reactome: R-HSA-1257604;R-HSA-6811558;R-HSA-9014843;
pdb: 4KC3;
name: Interleukin-1 receptor-like 1 (Protein ST2)
length: 556
go: ENSG00000115602;
snps: rs1041973 rs4988956 rs10192036 rs10204137 rs10192157 rs10206753
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cytokine receptor activity [GO:0004896]; interleukin-1 receptor activity [GO:0004908]; immune response [GO:0006955]; interleukin-33-mediated signaling pathway [GO:0038172]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of T-helper 1 type immune response [GO:0002826]; positive regulation of chemokine secretion [GO:0090197]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interleukin-5 production [GO:0032754]; positive regulation of macrophage activation [GO:0043032]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; Synonyms=ST2L; IsoId=Q01638-1; Sequence=Displayed; Name=B; Synonyms=ST2S; IsoId=Q01638-2; Sequence=VSP_002666, VSP_002667; Name=C; Synonyms=ST2V; IsoId=Q01638-3; Sequence=VSP_002664, VSP_002665; Note=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=Q01638-4; Sequence=VSP_054933, VSP_002666, VSP_002667; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform C: Cell membrane.; SUBCELLULAR LOCATION: Isoform B: Secreted.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11478810}; Single-pass type I membrane protein {ECO:0000269|PubMed:11478810}.


uniprotID: Q8TD20
geneSymbol: SLC2A12
reactome: R-HSA-189200;
length: 617
go: ENSG00000146411;
drug: DB09502;
name:
Solute carrier family 2, facilitated glucose transporter member 12 (Glucose transporter type 12) (GLUT-12)

sequence:

opentargets:
endomembrane system [GO:0012505]; integral component of plasma membrane [GO:0005887]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; carbohydrate:proton symporter activity [GO:0005351]; D-glucose transmembrane transporter activity [GO:0055056]; glucose transmembrane transporter activity [GO:0005355]; hexose transmembrane transport [GO:0008645]

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:11832379}. Note=Localizes primarily perinuclear region in the absence of insulin.


uniprotID: P11169
geneSymbol: SLC2A3
reactome: R-HSA-189200;R-HSA-196836;R-HSA-6798695;
pdb: 4ZW9;4ZWB;4ZWC;5C65;
length: 496
go: ENSG00000059804;
drug: DB09502;
snps: rs17728193
name:
Solute carrier family 2, facilitated glucose transporter member 3 (Glucose transporter type 3, brain) (GLUT-3)

sequence:

opentargets:
cell projection [GO:0042995]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; D-glucose transmembrane transporter activity [GO:0055056]; dehydroascorbic acid transmembrane transporter activity [GO:0033300]; glucose binding [GO:0005536]; glucose transmembrane transporter activity [GO:0005355]; carbohydrate metabolic process [GO:0005975]; glucose transmembrane transport [GO:1904659]; L-ascorbic acid metabolic process [GO:0019852]; neutrophil degranulation [GO:0043312]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9477959, ECO:0000305|PubMed:26176916}; Multi-pass membrane protein {ECO:0000269|PubMed:26176916}. Perikaryon {ECO:0000250|UniProtKB:Q07647}. Cell projection {ECO:0000250|UniProtKB:Q07647}. Note=Localized to densely spaced patches along neuronal processes. {ECO:0000250|UniProtKB:Q07647}.


uniprotID: Q9H1H1
geneSymbol: GTSF1L
name: Gametocyte-specific factor 1-like (Protein FAM112A)
length: 148
go: ENSG00000124196;
opentargets: metal ion binding [GO:0046872]
snps: rs17826038
sequence:
MEPEAFEICPYDPHHRIPLSRFQYHLASCRRKNPKKAKKMATCKYNACHVVPIKNLEEHEAVCVNRSAVEEEDTENPLKVSPPSSEQNDDTQQVSPCLPSPDIWNVDGANCQHVFVLKTFFPQKVVCENDTKESARETSPQKILRPGQ

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H1H1-1; Sequence=Displayed; Name=2; IsoId=Q9H1H1-2; Sequence=VSP_047166; Note=Gene prediction based on EST data.; 


uniprotID: Q9NY64
geneSymbol: SLC2A8
reactome: R-HSA-189200;R-HSA-8856825;R-HSA-8856828;
length: 477
go: ENSG00000136856;
drug: DB09502;
snps: rs34064803
name:
Solute carrier family 2, facilitated glucose transporter member 8 (Glucose transporter type 8) (GLUT-8) (Glucose transporter type X1)

sequence:

opentargets:
clathrin-coated vesicle membrane [GO:0030665]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; synaptic vesicle [GO:0008021]; carbohydrate:proton symporter activity [GO:0005351]; D-glucose transmembrane transporter activity [GO:0055056]; glucose binding [GO:0005536]; glucose transmembrane transporter activity [GO:0005355]; carbohydrate metabolic process [GO:0005975]; glucose transmembrane transport [GO:1904659]; hexose transmembrane transport [GO:0008645]; insulin receptor signaling pathway [GO:0008286]; male meiosis I [GO:0007141]; membrane organization [GO:0061024]; response to hypoxia [GO:0001666]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Principally intracellular. May move between intracellular vesicles and the plasma membrane. The dileucine internalization motif is critical for intracellular sequestration (By similarity). {ECO:0000250}.


uniprotID: Q86UQ5
geneSymbol: GTSCR1
name: Gilles de la Tourette syndrome chromosomal region candidate gene 1 protein
length: 136
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MQSDIYHPGHSFPSWVLCWVHSCGHEGHLRETAEIRKTHQNGDLQIRGGRGRRESTEIFQVASVTEGEESPPAICMEVFLFLWFIAPIYACVCRIFKIQVRNTVKNSSTASLAPSISTSEERQIRIERHHYHLYGQ


uniprotID: A1L0T0
geneSymbol: ILVBL
name: Acetolactate synthase-like protein (EC 2.2.1.-) (IlvB-like protein)
length: 632
go: ENSG00000105135;
snps: rs17856373 rs35548653
location: SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; magnesium ion binding [GO:0000287]; thiamine pyrophosphate binding [GO:0030976]; transferase activity [GO:0016740]


uniprotID: Q8WW33
geneSymbol: GTSF1
name: Gametocyte-specific factor 1 (Protein FAM112B)
length: 167
go: ENSG00000170627;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9DAN6}.
sequence:
MEETYTDSLDPEKLLQCPYDKNHQIRACRFPYHLIKCRKNHPDVASKLATCPFNARHQVPRAEISHHISSCDDRSCIEQDVVNQTRSLRQETLAESTWQCPPCDEDWDKDLWEQTSTPFVWGTTHYSDNNSPASNIVTEHKNNLASGMRVPKSLPYVLPWKNNGNAQ

opentargets:
cytoplasm [GO:0005737]; metal ion binding [GO:0046872]; cell differentiation [GO:0030154]; spermatogenesis [GO:0007283]


uniprotID: P49915
geneSymbol: GMPS
reactome: R-HSA-73817;
pdb: 2VPI;2VXO;
name: GMP synthase [glutamine-hydrolyzing] (EC 6.3.5.2) (GMP synthetase) (Glutamine amidotransferase)
length: 693
go: ENSG00000163655;
drug: DB00142;DB00130;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; GMP synthase (glutamine-hydrolyzing) activity [GO:0003922]; GMP synthase activity [GO:0003921]; pyrophosphatase activity [GO:0016462]; glutamine metabolic process [GO:0006541]; GMP biosynthetic process [GO:0006177]; purine nucleobase biosynthetic process [GO:0009113]; purine ribonucleoside monophosphate biosynthetic process [GO:0009168]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49915-1; Sequence=Displayed; Name=2; IsoId=P49915-2; Sequence=VSP_053933; Note=No experimental confirmation available.; 


uniprotID: P43080
geneSymbol: GUCA1A
reactome: R-HSA-2514859;
name: Guanylyl cyclase-activating protein 1 (GCAP 1) (Guanylate cyclase activator 1A)
length: 201
go: ENSG00000048545;
drug: DB08231;
snps: rs104893968 rs104893967 rs771261841 rs121434631
location: SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
sequence:

opentargets:
photoreceptor disc membrane [GO:0097381]; photoreceptor inner segment [GO:0001917]; calcium ion binding [GO:0005509]; calcium sensitive guanylate cyclase activator activity [GO:0008048]; guanylate cyclase regulator activity [GO:0030249]; cellular response to calcium ion [GO:0071277]; phototransduction [GO:0007602]; positive regulation of cGMP-mediated signaling [GO:0010753]; positive regulation of guanylate cyclase activity [GO:0031284]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; signal transduction [GO:0007165]; visual perception [GO:0007601]


uniprotID: Q9UMX6
geneSymbol: GUCA1B
reactome: R-HSA-2514859;
name: Guanylyl cyclase-activating protein 2 (GCAP 2) (Guanylate cyclase activator 1B)
length: 200
go: ENSG00000112599;
snps: rs139923590 rs121909124
location: SUBCELLULAR LOCATION: Cell membrane. Note=Membranes of outer segment.
sequence:

opentargets:
photoreceptor disc membrane [GO:0097381]; photoreceptor inner segment [GO:0001917]; calcium ion binding [GO:0005509]; calcium sensitive guanylate cyclase activator activity [GO:0008048]; body fluid secretion [GO:0007589]; cell-cell signaling [GO:0007267]; phototransduction [GO:0007602]; receptor guanylyl cyclase signaling pathway [GO:0007168]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; visual perception [GO:0007601]


uniprotID: O95843
geneSymbol: GUCA1C
reactome: R-HSA-2514859;
pdb: 2GGZ;
name: Guanylyl cyclase-activating protein 3 (GCAP 3) (Guanylate cyclase activator 1C)
length: 209
go: ENSG00000138472;
snps: rs2715687 rs6804162 rs11917716 rs16854916
sequence:

opentargets:
photoreceptor disc membrane [GO:0097381]; calcium ion binding [GO:0005509]; calcium sensitive guanylate cyclase activator activity [GO:0008048]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; signal transduction [GO:0007165]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95843-1; Sequence=Displayed; Name=2; IsoId=O95843-2; Sequence=VSP_000736; 


uniprotID: Q02747
geneSymbol: GUCA2A
reactome: R-HSA-8935690;
pdb: 1GNA;1GNB;1O8R;
length: 115
go: ENSG00000197273;
snps: rs2071499
location: SUBCELLULAR LOCATION: Secreted.
name:
Guanylin (Guanylate cyclase activator 2A) (Guanylate cyclase-activating protein 1) (Guanylate cyclase-activating protein I) (GCAP-I) [Cleaved into: HMW-guanylin; Guanylin]

sequence:
MNAFLLSALCLLGAWAALAGGVTVQDGNFSFSLESVKKLKDLQEPQEPRVGKLRNFAPIPGEPVVPILCSNPNFPEELKPLCKEPNAQEILQRLEEIAEDPGTCEICAYAACTGC

opentargets:
extracellular region [GO:0005576]; guanylate cyclase activator activity [GO:0030250]; hormone activity [GO:0005179]; digestion [GO:0007586]


uniprotID: Q02846
geneSymbol: GUCY2D
reactome: R-HSA-2514859;
pdb: 1AWL;
length: 1103
go: ENSG00000132518;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Retinal guanylyl cyclase 1 (RETGC-1) (EC 4.6.1.2) (Guanylate cyclase 2D, retinal) (Rod outer segment membrane guanylate cyclase) (ROS-GC)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; nuclear outer membrane [GO:0005640]; photoreceptor disc membrane [GO:0097381]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; guanylate cyclase activity [GO:0004383]; peptide receptor activity [GO:0001653]; protein kinase activity [GO:0004672]; signaling receptor activity [GO:0038023]; cGMP biosynthetic process [GO:0006182]; intracellular signal transduction [GO:0035556]; receptor guanylyl cyclase signaling pathway [GO:0007168]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; signal transduction [GO:0007165]; visual perception [GO:0007601]

snps:
rs9905402 rs61749665 rs201414567 rs61749669 rs61749673 rs61749675 rs56280231 rs34596269 rs61749677 rs565948960 rs746002871 rs61749755 rs61749756 rs770740012 rs61750162 rs35146471 rs34598902 rs34331388 rs61750168 rs8069344 rs61750171 rs28933695 rs61750172 rs61750173 rs61750176 rs267606857 rs61750182 


uniprotID: Q15486
geneSymbol: GUSBP1
name: Putative inactive beta-glucuronidase-like protein SMA3
length: 140
opentargets: nervous system development [GO:0007399]; skeletal system development [GO:0001501]
sequence:
MDRSNPVKPALDYFSNRLVNYQISVKCSNQFKLEVCLLNAENKVVDNQAGTQGQLKVLGANLWWPYLMHEHPASLYSWEDGDCSHQSLGPLPACDLCDQLHLRSRQGGSVCGCDPCEQLLLLVSQLRAPGVDSAAAGRPV


uniprotID: Q7Z2Y8
geneSymbol: GVINP1
name: Interferon-induced very large GTPase 1 (Interferon-induced very large GTPase pseudogene 1)
length: 2422
opentargets: cytosol [GO:0005829]; nucleus [GO:0005634]; GTP binding [GO:0005525]
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:


uniprotID: Q96GX5
geneSymbol: MASTL
reactome: R-HSA-2465910;
pdb: 5LOH;
length: 879
go: ENSG00000120539;
snps: rs28941470 rs36121140 rs35413630 rs35571315 rs3802526
name:
Serine/threonine-protein kinase greatwall (GW) (GWL) (hGWL) (EC 2.7.11.1) (Microtubule-associated serine/threonine-protein kinase-like) (MAST-L)

sequence:

opentargets:
centrosome [GO:0005813]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; protein phosphatase 2A binding [GO:0051721]; protein serine/threonine kinase activity [GO:0004674]; cell division [GO:0051301]; cellular response to DNA damage stimulus [GO:0006974]; female meiosis II [GO:0007147]; G2/M transition of mitotic cell cycle [GO:0000086]; intracellular signal transduction [GO:0035556]; mitotic cell cycle [GO:0000278]; negative regulation of phosphoprotein phosphatase activity [GO:0032515]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of ubiquitin protein ligase activity [GO:1904668]; regulation of cell cycle [GO:0051726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96GX5-1; Sequence=Displayed; Name=2; IsoId=Q96GX5-2; Sequence=VSP_014574, VSP_014575; Note=No experimental confirmation available.; Name=3; IsoId=Q96GX5-3; Sequence=VSP_014574; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20818157}. Nucleus {ECO:0000269|PubMed:19460416, ECO:0000269|PubMed:20818157}. Cleavage furrow {ECO:0000269|PubMed:20818157}. Note=During interphase is mainly nuclear, upon nuclear envelope breakdown localizes at the cytoplasm and during mitosis at the centrosomes. Upon mitotic exit moves to the cleavage furrow. {ECO:0000269|PubMed:20818157}.


uniprotID: P13807
geneSymbol: GYS1
reactome: R-HSA-3322077;R-HSA-3785653;R-HSA-3814836;R-HSA-3828062;
name: Glycogen [starch] synthase, muscle (EC 2.4.1.11)
length: 737
go: ENSG00000104812;
snps: rs5455 rs5456 rs5461 rs5465 rs5447 rs200862074 rs5450 rs5453
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; inclusion body [GO:0016234]; membrane [GO:0016020]; glucose binding [GO:0005536]; glycogen (starch) synthase activity [GO:0004373]; glycogen synthase activity, transferring glucose-1-phosphate [GO:0061547]; protein kinase binding [GO:0019901]; glycogen biosynthetic process [GO:0005978]; heart development [GO:0007507]; response to glucose [GO:0009749]; response to sucrose [GO:0009744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13807-1; Sequence=Displayed; Name=2; IsoId=P13807-2; Sequence=VSP_042745; Note=No experimental confirmation available.; 


uniprotID: Q02539
geneSymbol: HIST1H1A
reactome: R-HSA-211227;R-HSA-2559584;
name: Histone H1.1 (Histone H1a)
length: 215
go: ENSG00000124610;
snps: rs417751 rs34541321 rs16891235
sequence:

opentargets:
cell surface [GO:0009986]; nuclear chromatin [GO:0000790]; nuclear euchromatin [GO:0005719]; nucleosome [GO:0000786]; nucleus [GO:0005634]; vesicle [GO:0031982]; chromatin DNA binding [GO:0031490]; double-stranded DNA binding [GO:0003690]; heparin binding [GO:0008201]; nucleosomal DNA binding [GO:0031492]; chromosome condensation [GO:0030261]; negative regulation of chromatin silencing [GO:0031936]; negative regulation of DNA recombination [GO:0045910]; nucleosome assembly [GO:0006334]; nucleosome positioning [GO:0016584]; positive regulation of receptor-mediated endocytosis [GO:0048260]; regulation of transcription, DNA-templated [GO:0006355]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00837, ECO:0000269|PubMed:15911621}. Chromosome {ECO:0000255|PROSITE-ProRule:PRU00837, ECO:0000269|PubMed:15911621}. Note=Mainly localizes in euchromatin.


uniprotID: P16401
geneSymbol: HIST1H1B
reactome: R-HSA-211227;R-HSA-2559584;
pdb: 2FE2;2RHI;
name: Histone H1.5 (Histone H1a) (Histone H1b) (Histone H1s-3)
length: 226
go: ENSG00000184357;
snps: rs11970638 rs34144478
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nuclear heterochromatin [GO:0005720]; nucleosome [GO:0000786]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; double-stranded DNA binding [GO:0003690]; histone deacetylase binding [GO:0042826]; nucleosomal DNA binding [GO:0031492]; RNA binding [GO:0003723]; chromatin organization [GO:0006325]; chromosome condensation [GO:0030261]; establishment of protein localization to chromatin [GO:0071169]; negative regulation of chromatin silencing [GO:0031936]; negative regulation of DNA recombination [GO:0045910]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nucleosome assembly [GO:0006334]; nucleosome positioning [GO:0016584]; positive regulation of cell growth [GO:0030307]; positive regulation of histone H3-K9 methylation [GO:0051574]; protein stabilization [GO:0050821]; regulation of transcription, DNA-templated [GO:0006355]

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=According to PubMed:15911621 more commonly found in heterochromatin. According to PubMed:10997781 associates with actively transcribed chromatin and not heterochromatin.


uniprotID: P16402
geneSymbol: HIST1H1D
reactome: R-HSA-211227;R-HSA-2559584;
name: Histone H1.3 (Histone H1c) (Histone H1s-2)
length: 221
go: ENSG00000124575;
snps: rs2050949
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nuclear euchromatin [GO:0005719]; nucleosome [GO:0000786]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; double-stranded DNA binding [GO:0003690]; nucleosomal DNA binding [GO:0031492]; RNA binding [GO:0003723]; chromosome condensation [GO:0030261]; histone H3-K27 trimethylation [GO:0098532]; histone H3-K4 trimethylation [GO:0080182]; negative regulation of chromatin silencing [GO:0031936]; negative regulation of DNA recombination [GO:0045910]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nucleosome assembly [GO:0006334]; nucleosome positioning [GO:0016584]; regulation of transcription, DNA-templated [GO:0006355]

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=According to PubMed:15911621 more commonly found in euchromatin. According to PubMed:10997781 is associated with inactive chromatin.


uniprotID: Q75WM6
geneSymbol: H1FNT
name: Testis-specific H1 histone (Haploid germ cell-specific nuclear protein 1) (Histone H1t2)
length: 255
go: ENSG00000187166;
snps: rs2732441 rs766280749 rs752698412 rs1471997 rs1471997 rs2291483
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; ATP binding [GO:0005524]; double-stranded DNA binding [GO:0003690]; nucleosomal DNA binding [GO:0031492]; chromosome condensation [GO:0030261]; multicellular organism development [GO:0007275]; negative regulation of chromatin silencing [GO:0031936]; negative regulation of DNA recombination [GO:0045910]; nucleosome positioning [GO:0016584]; regulation of transcription, DNA-templated [GO:0006355]; sperm chromatin condensation [GO:0035092]; spermatid nucleus elongation [GO:0007290]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8CJI4}. Chromosome {ECO:0000250|UniProtKB:Q8CJI4}. Note=In round and elongating spermatids, specifically localizes to a chromatin domain at the apical pole. {ECO:0000250|UniProtKB:Q8CJI4}.


uniprotID: Q92522
geneSymbol: H1FX
pdb: 2LSO;
name: Histone H1x
length: 213
go: ENSG00000184897;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleosome [GO:0000786]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; double-stranded DNA binding [GO:0003690]; nucleosomal DNA binding [GO:0031492]; RNA binding [GO:0003723]; chromosome condensation [GO:0030261]; negative regulation of chromatin silencing [GO:0031936]; negative regulation of DNA recombination [GO:0045910]; nucleosome assembly [GO:0006334]; nucleosome positioning [GO:0016584]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q6FI13
geneSymbol: HIST2H2AA3; HIST2H2AA4
name: Histone H2A type 2-A (Histone H2A.2) (Histone H2A/o)
length: 130
go: ENSG00000272196;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214815;R-HSA-3214847;R-HSA-3214858;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-5689603;R-HSA-5689880;R-HSA-5689901;R-HSA-606279;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MSGRGKQGGKARAKAKSRSSRAGLQFPVGRVHRLLRKGNYAERVGAGAPVYMAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGKVTIAQGGVLPNIQAVLLPKKTESHHKAKGK

opentargets:
extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]


uniprotID: P0C5Z0
geneSymbol: H2AFB2; H2AFB3
name: Histone H2A-Bbd type 2/3 (H2A Barr body-deficient) (H2A.Bbd)
length: 115
sequence:
MPRRRRRRGSSGAGGRGRTCSRTVRAELSFSVSQVERSLREGHYAQRLSRTAPVYLAAVIEYLTAKVLELAGNEAQNSGERNITPLLLDMVVHNDRLLSTLFNTTTISQVAPGED

opentargets:
nuclear chromatin [GO:0000790]; nuclear nucleosome [GO:0000788]; nucleus [GO:0005634]; transcriptionally active chromatin [GO:0035327]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]; mRNA processing [GO:0006397]; nucleosome assembly [GO:0006334]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20008104}. Chromosome {ECO:0000269|PubMed:20008104, ECO:0000269|PubMed:22795134}. Note=Associated with the active X chromosome and with autosomes, while it is absent from the inactive X chromosome and excluded from Barr bodies. {ECO:0000269|PubMed:20008104}.


uniprotID: O75367
geneSymbol: H2AFY
pdb: 1U35;1ZR3;1ZR5;2F8N;2FXK;3HQH;3HSV;3IID;3IIF;3IVB;5IIT;5LNC;
length: 372
go: ENSG00000113648;
name:
Core histone macro-H2A.1 (Histone macroH2A1) (mH2A1) (Histone H2A.y) (H2A/y) (Medulloblastoma antigen MU-MB-50.205)

sequence:

opentargets:
Barr body [GO:0001740]; condensed chromosome [GO:0000793]; extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nuclear chromosome [GO:0000228]; nuclear chromosome, telomeric region [GO:0000784]; nucleolus [GO:0005730]; nucleosome [GO:0000786]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; sex chromatin [GO:0001739]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; double-stranded methylated DNA binding [GO:0010385]; enzyme binding [GO:0019899]; nucleosomal DNA binding [GO:0031492]; promoter-specific chromatin binding [GO:1990841]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; protein serine/threonine kinase inhibitor activity [GO:0030291]; rDNA binding [GO:0000182]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription regulatory region DNA binding [GO:0044212]; chromatin organization [GO:0006325]; dosage compensation [GO:0007549]; establishment of protein localization to chromatin [GO:0071169]; negative regulation of cell cycle G2/M phase transition [GO:1902750]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of histone H3-K27 methylation [GO:0061086]; negative regulation of histone H3-K4 methylation [GO:0051572]; negative regulation of histone phosphorylation [GO:0033128]; negative regulation of protein localization to chromosome, telomeric region [GO:1904815]; negative regulation of protein serine/threonine kinase activity [GO:0071901]; negative regulation of response to oxidative stress [GO:1902883]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901837]; nucleosome assembly [GO:0006334]; positive regulation of gene expression, epigenetic [GO:0045815]; positive regulation of keratinocyte differentiation [GO:0045618]; positive regulation of maintenance of mitotic sister chromatid cohesion [GO:0034184]; positive regulation of response to oxidative stress [GO:1902884]; regulation of gene expression, epigenetic [GO:0040029]; regulation of lipid metabolic process [GO:0019216]; regulation of response to oxidative stress [GO:1902882]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; Synonyms=mH2A1.2 {ECO:0000303|PubMed:23022728}; IsoId=O75367-1; Sequence=Displayed; Note=The preferential expression of isoform 2 over that of isoform 1 requires the presence of DDX5/DDX17. {ECO:0000269|PubMed:23022728}; Name=1; Synonyms=mH2A1.1 {ECO:0000303|PubMed:23022728}; IsoId=O75367-2; Sequence=VSP_002056; Note=Specifically binds ADP-ribose and O-acetyl-ADP-ribose. Important residues for binding are Asp-203, Gly-224, Gly-314 and Phe-348. Preferentially expressed over isoform 2 in the absence of DDX5/DDX17. {ECO:0000269|PubMed:15902274, ECO:0000269|PubMed:23022728}; Name=3; IsoId=O75367-3; Sequence=VSP_038379; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15621527, ECO:0000269|PubMed:15897469, ECO:0000269|PubMed:9634239}. Chromosome {ECO:0000269|PubMed:15621527, ECO:0000269|PubMed:15897469, ECO:0000269|PubMed:9634239}. Note=Enriched in inactive X chromosome chromatin and in senescence-associated heterochromatin. {ECO:0000269|PubMed:15621527, ECO:0000269|PubMed:15897469, ECO:0000269|PubMed:9634239}.


uniprotID: P58549
geneSymbol: FXYD7
reactome: R-HSA-5578775;R-HSA-936837;
name: FXYD domain-containing ion transport regulator 7
sequence: MATPTQTPTKAPEEPDPFYYDYNTVQTVGMTLATILFLLGILIVISKKVKCRKADSRSESPTCKSCKSELPSSAPGGGGV
length: 80
go: ENSG00000221946;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATPase binding [GO:0051117]; ion channel activity [GO:0005216]; sodium channel regulator activity [GO:0017080]; regulation of sodium ion transmembrane transporter activity [GO:2000649]


uniprotID: Q7L622
geneSymbol: G2E3
length: 706
go: ENSG00000092140;
snps: rs17096934
name:
G2/M phase-specific E3 ubiquitin-protein ligase (EC 2.3.2.26) (G2/M phase-specific HECT-type E3 ubiquitin transferase)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; metal ion binding [GO:0046872]; ubiquitin-protein transferase activity [GO:0004842]; apoptotic process [GO:0006915]; multicellular organism development [GO:0007275]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:17239372}. Cytoplasm {ECO:0000269|PubMed:17239372}. Note=Shuttles between the nucleus and the cytoplasm. In the nucleus, delocalizes from the nucleolus to the nucleoplasm in response to DNA damage. {ECO:0000269|PubMed:17239372}.


uniprotID: Q7LDI9
geneSymbol: ERVK-6
length: 666
name:
Endogenous retrovirus group K member 6 Gag polyprotein (HERV-K(C7) Gag protein) (HERV-K(HML-2.HOM) Gag protein) (HERV-K108 Gag protein) (HERV-K_7p22.1 provirus ancestral Gag polyprotein) (Gag polyprotein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=1;  Comment=This protein is synthesized as a Gag polypeptide and as a Gag-Pro-Pol polyprotein. The later is the precursor of the Pro and Pol proteins. It is thought, by similarity with type-B retroviruses, to be generated by -1 frameshifts occurring at the Gag-Pro and Pro-Pol genes boundaries.; Name=1; IsoId=Q7LDI9-1; Sequence=Displayed; 


uniprotID: O95177
geneSymbol: GAS8-AS1
name: Uncharacterized protein GAS8-AS1 (GAS8 antisense RNA 1) (GAS8 antisense gene protein 1)
length: 125
snps: rs3785183
sequence:
MKLSSAAGQESPGHPHPSPPAWTLKKPSESVAQRAMCSARACPVACPVGCPAACPVGCPIACPVSCPVACPVGCPVGSMATAPQGLSPQEWEADRETGSSSHAGTTQCSIHSPSSSSRHLSRTQT


uniprotID: O60353
geneSymbol: FZD6
reactome: R-HSA-373080;R-HSA-4086398;R-HSA-4086400;R-HSA-4641263;R-HSA-5340588;
name: Frizzled-6 (Fz-6) (hFz6)
length: 706
go: ENSG00000164930;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; apicolateral plasma membrane [GO:0016327]; cell surface [GO:0009986]; cytoplasmic vesicle membrane [GO:0030659]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; ubiquitin protein ligase binding [GO:0031625]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; canonical Wnt signaling pathway [GO:0060070]; cell proliferation in midbrain [GO:0033278]; embryonic nail plate morphogenesis [GO:0035880]; establishment of body hair planar orientation [GO:0048105]; hair follicle development [GO:0001942]; inner ear morphogenesis [GO:0042472]; midbrain morphogenesis [GO:1904693]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; neural tube closure [GO:0001843]; non-canonical Wnt signaling pathway [GO:0035567]; platelet activation [GO:0030168]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

snps:
rs827528 rs80216383 rs61753730 rs3808553 rs142694816 rs150760762 rs151339003 rs767273753 rs79408516 rs116195528 rs12549394 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60353-1; Sequence=Displayed; Name=2; IsoId=O60353-2; Sequence=VSP_044291; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q61089}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000250|UniProtKB:Q61089}; Multi-pass membrane protein {ECO:0000255}. Cell surface {ECO:0000250|UniProtKB:Q61089}. Apical cell membrane; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:Q61089}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalizes with FZD3 at the apical face of cells (By similarity). {ECO:0000250|UniProtKB:Q61089}.


uniprotID: P51993
geneSymbol: FUT6
length: 359
go: ENSG00000156413;
snps: rs778805 rs364637 rs17855739 rs61147939
name:
Alpha-(1,3)-fucosyltransferase 6 (EC 2.4.1.65) (Fucosyltransferase 6) (Fucosyltransferase VI) (Fuc-TVI) (FucT-VI) (Galactoside 3-L-fucosyltransferase)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity [GO:0017060]; alpha-(1->3)-fucosyltransferase activity [GO:0046920]; fucosyltransferase activity [GO:0008417]; ceramide metabolic process [GO:0006672]; fucosylation [GO:0036065]; L-fucose catabolic process [GO:0042355]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51993-1; Sequence=Displayed; Name=2; IsoId=P51993-2; Sequence=VSP_001780; 


uniprotID: Q9UQC2
geneSymbol: GAB2
reactome: R-HSA-109704;R-HSA-1433557;R-HSA-1839117;R-HSA-2730905;R-HSA-8853659;R-HSA-8983432;R-HSA-912526;
pdb: 2VWF;2W0Z;5EWZ;5EXA;
length: 676
go: ENSG00000033327;
snps: rs752597583 rs2279374
name:
GRB2-associated-binding protein 2 (GRB2-associated binder 2) (Growth factor receptor bound protein 2-associated protein 2) (pp100)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; transmembrane receptor protein tyrosine kinase adaptor activity [GO:0005068]; axon guidance [GO:0007411]; cytokine-mediated signaling pathway [GO:0019221]; Fc-epsilon receptor signaling pathway [GO:0038095]; osteoclast differentiation [GO:0030316]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of cell proliferation [GO:0008284]; positive regulation of mast cell degranulation [GO:0043306]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UQC2-1; Sequence=Displayed; Name=2; IsoId=Q9UQC2-2; Sequence=VSP_038520; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19172738}. Cell membrane {ECO:0000269|PubMed:19172738}.


uniprotID: Q96IG2
geneSymbol: FBXL20
reactome: R-HSA-8951664;R-HSA-983168;
length: 436
go: ENSG00000108306;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
F-box/LRR-repeat protein 20 (F-box and leucine-rich repeat protein 20) (F-box/LRR-repeat protein 2-like)

sequence:

opentargets:
cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; presynapse [GO:0098793]; SCF ubiquitin ligase complex [GO:0019005]; Schaffer collateral - CA1 synapse [GO:0098685]; ubiquitin-protein transferase activity [GO:0004842]; behavioral fear response [GO:0001662]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; regulation of protein catabolic process at presynapse, modulating synaptic transmission [GO:0099575]; regulation of synaptic vesicle exocytosis [GO:2000300]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IG2-1; Sequence=Displayed; Name=2; IsoId=Q96IG2-2; Sequence=VSP_030769; 


uniprotID: Q9BTY2
geneSymbol: FUCA2
reactome: R-HSA-381426;R-HSA-6798695;R-HSA-8957275;
name: Plasma alpha-L-fucosidase (EC 3.2.1.51) (Alpha-L-fucoside fucohydrolase 2) (Alpha-L-fucosidase 2)
length: 467
go: ENSG00000001036;
snps: rs11155297 rs3762002 rs3762001
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosome [GO:0005764]; alpha-L-fucosidase activity [GO:0004560]; cellular protein metabolic process [GO:0044267]; fucose metabolic process [GO:0006004]; glycoside catabolic process [GO:0016139]; neutrophil degranulation [GO:0043312]; post-translational protein modification [GO:0043687]; regulation of entry of bacterium into host cell [GO:2000535]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BTY2-1; Sequence=Displayed; Name=2; IsoId=Q9BTY2-2; Sequence=VSP_057004, VSP_057005; Note=No experimental confirmation available.; 


uniprotID: Q9H3Q3
geneSymbol: GAL3ST2
length: 398
go: ENSG00000154252;
snps: rs12469459
name:
Galactose-3-O-sulfotransferase 2 (Gal3ST-2) (EC 2.8.2.-) (Beta-galactose-3-O-sulfotransferase 2) (Gal-beta-1, 3-GalNAc 3'-sulfotransferase 2) (Glycoprotein beta-Gal 3'-sulfotransferase 2)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; galactosylceramide sulfotransferase activity [GO:0001733]; sulfotransferase activity [GO:0008146]; glycolipid biosynthetic process [GO:0009247]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000305|PubMed:11029462}; Single-pass type II membrane protein {ECO:0000305|PubMed:11029462}.


uniprotID: Q14435
geneSymbol: GALNT3
reactome: R-HSA-190372;R-HSA-5083625;R-HSA-913709;
length: 633
go: ENSG00000115339;
name:
Polypeptide N-acetylgalactosaminyltransferase 3 (EC 2.4.1.41) (Polypeptide GalNAc transferase 3) (GalNAc-T3) (pp-GaNTase 3) (Protein-UDP acetylgalactosaminyltransferase 3) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; manganese ion binding [GO:0030145]; polypeptide N-acetylgalactosaminyltransferase activity [GO:0004653]; carbohydrate metabolic process [GO:0005975]; fibroblast growth factor receptor signaling pathway [GO:0008543]; O-glycan processing [GO:0016266]; protein O-linked glycosylation via serine [GO:0018242]; protein O-linked glycosylation via threonine [GO:0018243]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14435-1; Sequence=Displayed; Name=2; IsoId=Q14435-2; Sequence=VSP_011202, VSP_011203; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:9394011}; Single-pass type II membrane protein {ECO:0000269|PubMed:9394011}. Note=Resides preferentially in the trans and medial parts of the Golgi stack.


uniprotID: Q9H0Q3
geneSymbol: FXYD6
reactome: R-HSA-5578775;R-HSA-936837;
name: FXYD domain-containing ion transport regulator 6 (Phosphohippolin)
sequence: MELVLVFLCSLLAPMVLASAAEKEKEMDPFHYDYQTLRIGGLVFAVVLFSVGILLILSRRCKCSFNQKPRAPGDEEAQVENLITANATEPQKAEN
length: 95
go: ENSG00000137726;ENSG00000255245;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
opentargets:
glutamatergic synapse [GO:0098978]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; plasma membrane [GO:0005886]; ion channel activity [GO:0005216]; sodium channel regulator activity [GO:0017080]; regulation of sodium ion transmembrane transporter activity [GO:2000649]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0Q3-1; Sequence=Displayed; Name=2; IsoId=Q9H0Q3-2; Sequence=VSP_045996; Note=No experimental confirmation available.; 


uniprotID: Q9BUM1
geneSymbol: G6PC3
reactome: R-HSA-3282872;R-HSA-70263;
length: 346
go: ENSG00000141349;
name:
Glucose-6-phosphatase 3 (G-6-Pase 3) (G6Pase 3) (EC 3.1.3.9) (Glucose-6-phosphatase beta) (G6Pase-beta) (Ubiquitous glucose-6-phosphatase catalytic subunit-related protein)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; glucose-6-phosphatase activity [GO:0004346]; gluconeogenesis [GO:0006094]; glucose 6-phosphate metabolic process [GO:0051156]; glucose-6-phosphate transport [GO:0015760]

snps:
rs762019955 rs775224457 rs752966267 rs267606834 rs766706036 rs1485073209 rs118203969 rs140294222 rs34406052 rs765927570 rs118203968 rs200478425 rs118203971 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:13129915}; Multi-pass membrane protein {ECO:0000269|PubMed:13129915}.


uniprotID: P01225
geneSymbol: FSHB
reactome: R-HSA-209822;R-HSA-375281;R-HSA-418555;
pdb: 1FL7;1XWD;4AY9;4MQW;
length: 129
go: ENSG00000131808;
snps: rs6170 rs5030776
name:
Follitropin subunit beta (Follicle-stimulating hormone beta subunit) (FSH-B) (FSH-beta) (Follitropin beta chain)

sequence:
MKTLQFFFLFCCWKAICCNSCELTNITIAIEKEECRFCISINTTWCAGYCYTRDLVYKDPARPKIQKTCTFKELVYETVRVPGCAHHADSLYTYPVATQCHCGKCDSDSTDCTVRGLGPSYCSFGEMKE

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; follicle-stimulating hormone complex [GO:0016914]; follicle-stimulating hormone activity [GO:0016913]; female gamete generation [GO:0007292]; female pregnancy [GO:0007565]; follicle-stimulating hormone signaling pathway [GO:0042699]; G protein-coupled receptor signaling pathway [GO:0007186]; hormone-mediated signaling pathway [GO:0009755]; peptide hormone processing [GO:0016486]; positive regulation of bone resorption [GO:0045780]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of steroid biosynthetic process [GO:0010893]; positive regulation of transcription by RNA polymerase II [GO:0045944]; progesterone biosynthetic process [GO:0006701]; regulation of osteoclast differentiation [GO:0045670]; regulation of signaling receptor activity [GO:0010469]; Sertoli cell proliferation [GO:0060011]; transforming growth factor beta receptor signaling pathway [GO:0007179]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:2494176}. Note=Efficient secretion requires dimerization with CGA. {ECO:0000269|PubMed:2494176}.


uniprotID: P11413
geneSymbol: G6PD
reactome: R-HSA-5628897;R-HSA-71336;
pdb: 1QKI;2BH9;2BHL;5UKW;6E07;6E08;
name: Glucose-6-phosphate 1-dehydrogenase (G6PD) (EC 1.1.1.49)
length: 515
go: ENSG00000160211;
drug: DB05107;DB03461;DB03085;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleus [GO:0005634]; glucose binding [GO:0005536]; glucose-6-phosphate dehydrogenase activity [GO:0004345]; identical protein binding [GO:0042802]; NADP binding [GO:0050661]; protein homodimerization activity [GO:0042803]; cellular response to oxidative stress [GO:0034599]; cholesterol biosynthetic process [GO:0006695]; erythrocyte maturation [GO:0043249]; glucose 6-phosphate metabolic process [GO:0051156]; glucose metabolic process [GO:0006006]; glutathione metabolic process [GO:0006749]; lipid metabolic process [GO:0006629]; NADP metabolic process [GO:0006739]; NADPH regeneration [GO:0006740]; negative regulation of cell growth involved in cardiac muscle cell development [GO:0061052]; negative regulation of protein glutathionylation [GO:0010734]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; oxidation-reduction process [GO:0055114]; pentose biosynthetic process [GO:0019322]; pentose-phosphate shunt [GO:0006098]; pentose-phosphate shunt, oxidative branch [GO:0009051]; positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel [GO:1904879]; regulation of neuron apoptotic process [GO:0043523]; response to ethanol [GO:0045471]; response to food [GO:0032094]; response to iron(III) ion [GO:0010041]; response to organic cyclic compound [GO:0014070]; ribose phosphate biosynthetic process [GO:0046390]; substantia nigra development [GO:0021762]

snps:
rs137852340 rs78478128 rs76645461 rs137852315 rs1050828 rs137852349 rs138687036 rs782308266 rs267606835 rs1050829 rs78365220 rs137852341 rs137852313 rs137852314 rs137852331 rs5030872 rs267606836 rs5030868 rs137852330 rs137852332 rs782754619 rs137852326 rs137852319 rs137852328 rs137852328 rs137852318 rs74575103 rs137852327 rs137852339 rs137852347 rs76723693 rs5030869 rs137852342 rs137852333 rs137852329 rs137852322 rs137852320 rs137852334 rs137852321 rs137852316 rs137852335 rs137852325 rs137852323 rs137852336 rs137852337 rs137852317 rs398123546 rs137852324 rs72554665 rs72554665 rs72554664 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Short; IsoId=P11413-1; Sequence=Displayed; Name=Long; IsoId=P11413-2; Sequence=VSP_001592; Name=3; IsoId=P11413-3; Sequence=VSP_037802; 


uniprotID: P35575
geneSymbol: G6PC
reactome: R-HSA-3274531;R-HSA-70263;
name: Glucose-6-phosphatase (G-6-Pase) (G6Pase) (EC 3.1.3.9) (Glucose-6-phosphatase alpha) (G6Pase-alpha)
length: 357
go: ENSG00000131482;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; glucose-6-phosphatase activity [GO:0004346]; phosphate ion binding [GO:0042301]; phosphotransferase activity, alcohol group as acceptor [GO:0016773]; cholesterol homeostasis [GO:0042632]; gluconeogenesis [GO:0006094]; glucose 6-phosphate metabolic process [GO:0051156]; glucose homeostasis [GO:0042593]; glucose-6-phosphate transport [GO:0015760]; glycogen catabolic process [GO:0005980]; glycogen metabolic process [GO:0005977]; multicellular organism growth [GO:0035264]; phosphorylated carbohydrate dephosphorylation [GO:0046838]; regulation of gene expression [GO:0010468]; response to food [GO:0032094]; steroid metabolic process [GO:0008202]; triglyceride metabolic process [GO:0006641]; urate metabolic process [GO:0046415]

snps:
rs761839506 rs104894565 rs1057517008 rs104894566 rs756632286 rs1801175 rs1801176 rs104894567 rs1401928680 rs759982943 rs104894568 rs104894571 rs750470654 rs763543607 rs104894569 rs104894569 rs760981149 rs80356482 rs80356482 rs80356483 rs104894563 rs770003650 rs367727229 rs387906505 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35575-1; Sequence=Displayed; Name=2; IsoId=P35575-2; Sequence=VSP_047558, VSP_047559; Note=No experimental confirmation available.; 


uniprotID: P0C7A2
geneSymbol: FAM153B
name: Protein FAM153B
length: 387
go: ENSG00000182230;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0C7A2-1; Sequence=Displayed; Name=2; IsoId=P0C7A2-2; Sequence=VSP_032916; Note=No experimental confirmation available.; 


uniprotID: P41162
geneSymbol: ETV3
length: 512
go: ENSG00000117036;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00237}.
name:
ETS translocation variant 3 (ETS domain transcriptional repressor PE1) (PE-1) (Mitogenic Ets transcriptional suppressor)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; RNA polymerase II transcription repressor complex [GO:0090571]; DEAD/H-box RNA helicase binding [GO:0017151]; 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]; cell differentiation [GO:0030154]; cellular response to granulocyte macrophage colony-stimulating factor stimulus [GO:0097011]; negative regulation of cell proliferation [GO:0008285]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=P41162-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P41162-2; Sequence=VSP_013351, VSP_013352; 


uniprotID: Q6ZW35
geneSymbol: FAM231D
name: Protein FAM231D
length: 169
sequence:
MGSSKGLWKEKPSAHTSECFSTTACPVACILLVWNSQTPAGLQSLCTGRHPSLSARAQWAGPRASREEGTFWTEPVGQERRLIRSGSSQNESQEDQGADLISHEGLKADNQRESSTWANEVEDRRPQCTSALNLTPSHLHPPHPLTTFFRNVIGIKIPPGLVAMGGTVA


uniprotID: Q96PZ2
geneSymbol: FAM111A
name: Protein FAM111A
length: 611
go: ENSG00000166801;
snps: rs587777014 rs587777012 rs587777015 rs587777013 rs587777011
sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; defense response to virus [GO:0051607]; DNA replication [GO:0006260]; negative regulation of viral genome replication [GO:0045071]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly localizes to nucleus: colocalizes with PCNA on replication sites. {ECO:0000269|PubMed:24561620}.


uniprotID: Q8N9E0
geneSymbol: FAM133A
name: Protein FAM133A
length: 248
go: ENSG00000179083;
snps: rs34123774
sequence:


uniprotID: Q5BKY9
geneSymbol: FAM133B
name: Protein FAM133B
length: 247
go: ENSG00000234545;
opentargets: RNA binding [GO:0003723]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5BKY9-1; Sequence=Displayed; Name=2; IsoId=Q5BKY9-2; Sequence=VSP_025571; 


uniprotID: P12314
geneSymbol: FCGR1A
reactome: R-HSA-1236978;R-HSA-198933;R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-877300;
pdb: 3RJD;4W4O;4X4M;4ZNE;
length: 374
go: ENSG00000150337;
snps: rs619322
name:
High affinity immunoglobulin gamma Fc receptor I (IgG Fc receptor I) (Fc-gamma RI) (FcRI) (Fc-gamma RIA) (FcgammaRIa) (CD antigen CD64)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; early endosome membrane [GO:0031901]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; IgG binding [GO:0019864]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; phagocytosis, engulfment [GO:0006911]; receptor-mediated endocytosis [GO:0006898]; regulation of immune response [GO:0050776]; signal transduction [GO:0007165]

drug:
DB00054;DB00051;DB00092;DB00087;DB00074;DB00112;DB00002;DB00111;DB00095;DB00005;DB00056;DB00078;DB00028;DB00992;DB00075;DB00108;DB00110;DB00707;DB00073;DB00081;DB00072;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A; IsoId=P12314-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P12314-2; Sequence=VSP_002637; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12756162, ECO:0000269|PubMed:8611682}; Single-pass type I membrane protein {ECO:0000269|PubMed:12756162, ECO:0000269|PubMed:8611682}. Note=Stabilized at the cell membrane through interaction with FCER1G.


uniprotID: Q9UKC9
geneSymbol: FBXL2
name: F-box/LRR-repeat protein 2 (F-box and leucine-rich repeat protein 2) (F-box protein FBL2/FBL3)
length: 423
go: ENSG00000153558;
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; SCF ubiquitin ligase complex [GO:0019005]; calmodulin binding [GO:0005516]; phosphatidylinositol 3-kinase regulatory subunit binding [GO:0036312]; protein phosphatase binding [GO:0019903]; ubiquitin-protein transferase activity [GO:0004842]; cellular protein modification process [GO:0006464]; modulation by host of viral RNA genome replication [GO:0044830]; protein monoubiquitination [GO:0006513]; protein ubiquitination [GO:0016567]; proteolysis [GO:0006508]; regulation of autophagy [GO:0010506]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKC9-1; Sequence=Displayed; Name=2; IsoId=Q9UKC9-2; Sequence=VSP_044600; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:15893726}; Lipid-anchor {ECO:0000269|PubMed:15893726}.


uniprotID: Q8NCQ5
geneSymbol: FBXO15
reactome: R-HSA-8951664;R-HSA-983168;
name: F-box only protein 15
length: 510
go: ENSG00000141665;
snps: rs35815390
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCQ5-1; Sequence=Displayed; Name=2; IsoId=Q8NCQ5-2; Sequence=VSP_043033; Note=No experimental confirmation available.; 


uniprotID: Q9UKA2
geneSymbol: FBXL4
reactome: R-HSA-8951664;R-HSA-983168;
name: F-box/LRR-repeat protein 4 (F-box and leucine-rich repeat protein 4) (F-box protein FBL4/FBL5)
length: 621
go: ENSG00000112234;
snps: rs1350566881 rs772037717 rs398123061 rs398123062 rs398123060 rs201989042
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Mitochondrion.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial intermembrane space [GO:0005758]; nuclear speck [GO:0016607]; SCF ubiquitin ligase complex [GO:0019005]; ubiquitin ligase complex [GO:0000151]; ubiquitin-protein transferase activity [GO:0004842]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q8TCJ0
geneSymbol: FBXO25
name: F-box only protein 25
length: 367
go: ENSG00000147364;
snps: rs17665340 rs10090550
sequence:

opentargets:
nucleus [GO:0005634]; SCF ubiquitin ligase complex [GO:0019005]; ubiquitin ligase complex [GO:0000151]; actin binding [GO:0003779]; ubiquitin-protein transferase activity [GO:0004842]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TCJ0-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8TCJ0-2; Sequence=VSP_007374; Name=3; IsoId=Q8TCJ0-3; Sequence=VSP_013060, VSP_013061, VSP_007374; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16278047, ECO:0000269|PubMed:18287534}. Note=In the nucleus, associates with a subnuclear dot-like structure. Colocalized with SKP1.


uniprotID: Q9C0D6
geneSymbol: FHDC1
name: FH2 domain-containing protein 1 (Inverted formin-1)
length: 1143
go: ENSG00000137460;
snps: rs3811833
sequence:

opentargets:
cilium [GO:0005929]; cytoplasmic microtubule [GO:0005881]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; actin binding [GO:0003779]; microtubule binding [GO:0008017]; cilium assembly [GO:0060271]; Golgi ribbon formation [GO:0090161]; stress fiber assembly [GO:0043149]

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:29742020}. Golgi apparatus {ECO:0000250|UniProtKB:Q3ULZ2}. Note=Associates with microtubules. {ECO:0000269|PubMed:18815276}.


uniprotID: Q86VR8
geneSymbol: FJX1
name: Four-jointed box protein 1 (Four-jointed protein homolog)
length: 437
go: ENSG00000179431;
snps: rs12792700 rs12286850
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; cell-cell signaling [GO:0007267]; retina layer formation [GO:0010842]


uniprotID: Q92496
geneSymbol: CFHR4
reactome: R-HSA-977606;
name: Complement factor H-related protein 4 (FHR-4)
length: 578
go: ENSG00000134365;
snps: rs10801578 rs7417769 rs10494745
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; lipid transporter activity [GO:0005319]; regulation of complement activation [GO:0030449]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=FHR-4A; IsoId=Q92496-1; Sequence=Displayed; Name=2; IsoId=Q92496-2; Sequence=VSP_046418; Note=No experimental confirmation available.; Name=3; Synonyms=FHR-4B; IsoId=Q92496-3; Sequence=VSP_053528; 


uniprotID: P0C7T7
geneSymbol: FRMD6-AS1
name: Putative uncharacterized protein FRMD6-AS1 (FRMD6 antisense RNA 1) (FRMD6 antisense gene protein 1)
length: 363
snps: rs11845396
sequence:


uniprotID: Q96KD3
geneSymbol: FAM71F1
name: Protein FAM71F1 (Protein FAM137A) (Testis development protein NYD-SP18)
length: 344
go: ENSG00000135248;
snps: rs6949056 rs6971091
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96KD3-1; Sequence=Displayed; Name=2; IsoId=Q96KD3-2; Sequence=VSP_029580; Name=3; IsoId=Q96KD3-3; Sequence=VSP_055270, VSP_055271, VSP_029580; Note=No experimental confirmation available.; 


uniprotID: Q9C073
geneSymbol: FAM117A
name: Protein FAM117A (C/EBP-induced protein)
length: 453
go: ENSG00000121104;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C073-1; Sequence=Displayed; Name=2; IsoId=Q9C073-2; Sequence=VSP_056129; Note=No experimental confirmation available.; 


uniprotID: Q0Z7S8
geneSymbol: FABP9
reactome: R-HSA-163560;
pdb: 4A60;
length: 132
go: ENSG00000205186;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Fatty acid-binding protein 9 (Testis lipid-binding protein) (TLBP) (Testis-type fatty acid-binding protein) (T-FABP)

sequence:
MVEPFLGTWKLVSSENFEDYMKELGVNFAARNMAGLVKPTVTISVDGKMMTIRTESSFQDTKISFKLGEEFDETTADNRKVKSTITLENGSMIHVQKWLGKETTIKRKIVDEKMVVECKMNNIVSTRIYEKV

opentargets:
acrosomal vesicle [GO:0001669]; cytosol [GO:0005829]; lipid binding [GO:0008289]; acrosome assembly [GO:0001675]; triglyceride catabolic process [GO:0019433]


uniprotID: Q5T1H1
geneSymbol: EYS
length: 3165
go: ENSG00000188107;
name:
Protein eyes shut homolog (Epidermal growth factor-like protein 10) (EGF-like protein 10) (Epidermal growth factor-like protein 11) (EGF-like protein 11) (Protein spacemaker homolog)

sequence:

opentargets:
extracellular exosome [GO:0070062]; calcium ion binding [GO:0005509]; detection of light stimulus involved in visual perception [GO:0050908]; skeletal muscle tissue regeneration [GO:0043403]

snps:
rs111947397 rs112609906 rs12193967 rs543011021 rs112822256 rs61753611 rs61753610 rs142450703 rs9342464 rs17411795 rs201652272 rs112464110 rs9294631 rs367857088 rs143327210 rs150951106 rs190009374 rs17404123 rs12663622 rs17403955 rs16895519 rs624851 rs62415828 rs62415827 rs62415826 rs147641443 rs561830314 rs75831552 rs535663619 rs57312007 rs199689193 rs16895517 rs9353806 rs188093810 rs115066356 rs893294562 rs868349465 rs201580493 rs749909863 rs141603172 rs145623359 rs4710457 rs768964978 rs66462731 rs74636274 rs111991705 rs144513453 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=3; IsoId=Q5T1H1-3; Sequence=Displayed; Name=1; IsoId=Q5T1H1-1; Sequence=VSP_036709; Name=2; IsoId=Q5T1H1-2; Sequence=VSP_035821, VSP_035822; Name=4; IsoId=Q5T1H1-4; Sequence=VSP_047161, VSP_035822; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305|PubMed:18836446}. Note=Localizes in the photoreceptor cell layer.


uniprotID: Q03828
geneSymbol: EVX2
name: Homeobox even-skipped homolog protein 2 (EVX-2)
length: 476
go: ENSG00000174279;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; limb morphogenesis [GO:0035108]


uniprotID: Q494R0
geneSymbol: FBXL19-AS1
length: 122
name:
Putative uncharacterized protein FBXL19-AS1 (FBXL19 antisense RNA 1) (FBXL19 antisense gene protein 1)

sequence:
MAEPGGRGDYRKDGRLPSLSRSPLSTTLGTSPACGLEIPPTSGARPDGSCSLPAPVYHLKSRQWKGMGRGYRQRWRLQGRGDCDMGCVVQASGLFPAEMRERTTKKMATSPLDLCAGACWEM


uniprotID: A8MUU1
geneSymbol: FABP5P3
name: Putative fatty acid-binding protein 5-like protein 3 (Fatty acid-binding protein 5 pseudogene 3)
length: 101
opentargets: lipid binding [GO:0008289]
sequence:
MGAMAKPDCIITCDSKNLTIKTESTLKTTQFSGTLGEKFEENTADGRRTQTVCNFTDGALVQHQEWDGKESTITRKLKDGKLVVERVMNHVACTRIYEKAQ


uniprotID: Q8TES7
geneSymbol: FBF1
reactome: R-HSA-5620912;
name: Fas-binding factor 1 (FBF-1) (Protein albatross)
length: 1133
go: ENSG00000188878;
snps: rs1135889 rs2305913 rs7218738 rs7213548
sequence:

opentargets:
cell junction [GO:0030054]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary transition fiber [GO:0097539]; cytosol [GO:0005829]; spindle pole [GO:0000922]; apical junction assembly [GO:0043297]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; establishment of epithelial cell polarity [GO:0090162]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8TES7-1; Sequence=Displayed; Name=2; IsoId=Q8TES7-2; Sequence=VSP_027322, VSP_027323; Note=No experimental confirmation available.; Name=3; IsoId=Q8TES7-3; Sequence=VSP_027320, VSP_027321; Note=No experimental confirmation available.; Name=4; IsoId=Q8TES7-4; Sequence=VSP_027318, VSP_027319; Note=No experimental confirmation available.; Name=5; IsoId=Q8TES7-5; Sequence=VSP_040769, VSP_040770; Note=No experimental confirmation available.; Name=6; IsoId=Q8TES7-6; Sequence=VSP_041555, VSP_040770; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, spindle pole. Cell junction. Note=Localizes specifically to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane. Localizes to the apical junction complex (AJC) in epithelial cells.


uniprotID: Q9Y297
geneSymbol: BTRC
pdb: 1P22;2P64;
length: 605
go: ENSG00000166167;
snps: rs4151060 rs2270439
reactome:
R-HSA-1169091;R-HSA-1170546;R-HSA-174113;R-HSA-180534;R-HSA-195253;R-HSA-202424;R-HSA-2565942;R-HSA-2871837;R-HSA-3769402;R-HSA-400253;R-HSA-5607761;R-HSA-5607764;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5676590;R-HSA-5684264;R-HSA-8951664;R-HSA-9020702;R-HSA-983168;

name:
F-box/WD repeat-containing protein 1A (E3RSIkappaB) (Epididymis tissue protein Li 2a) (F-box and WD repeats protein beta-TrCP) (pIkappaBalpha-E3 receptor subunit)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; Pwp2p-containing subcomplex of 90S preribosome [GO:0034388]; SCF ubiquitin ligase complex [GO:0019005]; small-subunit processome [GO:0032040]; beta-catenin binding [GO:0008013]; ligase activity [GO:0016874]; protein dimerization activity [GO:0046983]; protein phosphorylated amino acid binding [GO:0045309]; snoRNA binding [GO:0030515]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; branching involved in mammary gland duct morphogenesis [GO:0060444]; cellular response to organic cyclic compound [GO:0071407]; G2/M transition of mitotic cell cycle [GO:0000086]; interleukin-1-mediated signaling pathway [GO:0070498]; mammary gland epithelial cell proliferation [GO:0033598]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of smoothened signaling pathway [GO:0045879]; negative regulation of transcription, DNA-templated [GO:0045892]; NIK/NF-kappaB signaling [GO:0038061]; positive regulation of circadian rhythm [GO:0042753]; positive regulation of proteolysis [GO:0045862]; positive regulation of transcription, DNA-templated [GO:0045893]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein dephosphorylation [GO:0006470]; protein destabilization [GO:0031648]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of cell cycle [GO:0051726]; regulation of circadian rhythm [GO:0042752]; regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043122]; regulation of proteasomal protein catabolic process [GO:0061136]; rhythmic process [GO:0048511]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; signal transduction [GO:0007165]; stress-activated MAPK cascade [GO:0051403]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral process [GO:0016032]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y297-1; Sequence=Displayed; Name=2; IsoId=Q9Y297-2; Sequence=VSP_006764; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q3ULA2}. Nucleus {ECO:0000250|UniProtKB:Q3ULA2}.


uniprotID: Q9HCM7
geneSymbol: FBRSL1
length: 1045
go: ENSG00000112787;
opentargets: RNA binding [GO:0003723]
snps: rs3751315
name:
Fibrosin-1-like protein (AUTS2-like protein) (HBV X-transactivated gene 9 protein) (HBV XAg-transactivated protein 9)

sequence:


uniprotID: Q969H0
geneSymbol: FBXW7
pdb: 2OVP;2OVQ;2OVR;5IBK;5V4B;
length: 707
go: ENSG00000109670;
snps: rs6816935 rs991177157 rs6842544 rs7660281 rs867384286 rs1057519896 rs7679116
reactome:
R-HSA-2122947;R-HSA-2644606;R-HSA-2644607;R-HSA-2894862;R-HSA-390471;R-HSA-8939902;R-HSA-8951664;R-HSA-9604323;R-HSA-983168;

name:
F-box/WD repeat-containing protein 7 (Archipelago homolog) (hAgo) (F-box and WD-40 domain-containing protein 7) (F-box protein FBX30) (SEL-10) (hCdc4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Parkin-FBXW7-Cul1 ubiquitin ligase complex [GO:1990452]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; SCF ubiquitin ligase complex [GO:0019005]; cyclin binding [GO:0030332]; identical protein binding [GO:0042802]; phosphothreonine residue binding [GO:0050816]; protein binding, bridging [GO:0030674]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activator activity [GO:0097027]; ubiquitin-protein transferase activity [GO:0004842]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to UV [GO:0034644]; lipid homeostasis [GO:0055088]; lung development [GO:0030324]; negative regulation of DNA endoreduplication [GO:0032876]; negative regulation of gene expression [GO:0010629]; negative regulation of hepatocyte proliferation [GO:2000346]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of osteoclast development [GO:2001205]; negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding [GO:1903026]; negative regulation of SREBP signaling pathway [GO:2000639]; negative regulation of triglyceride biosynthetic process [GO:0010868]; Notch signaling pathway [GO:0007219]; positive regulation of epidermal growth factor-activated receptor activity [GO:0045741]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway [GO:1903378]; positive regulation of proteasomal protein catabolic process [GO:1901800]; positive regulation of protein targeting to mitochondrion [GO:1903955]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of ubiquitin-dependent protein catabolic process [GO:2000060]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein destabilization [GO:0031648]; protein polyubiquitination [GO:0000209]; protein stabilization [GO:0050821]; protein ubiquitination [GO:0016567]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of cell cycle G1/S phase transition [GO:1902806]; regulation of cell migration involved in sprouting angiogenesis [GO:0090049]; regulation of lipid storage [GO:0010883]; regulation of protein localization [GO:0032880]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; sister chromatid cohesion [GO:0007062]; ubiquitin recycling [GO:0010992]; vasculature development [GO:0001944]; vasculogenesis [GO:0001570]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Archipelago alpha, FBW7alpha {ECO:0000303|PubMed:17873522, ECO:0000303|PubMed:25775507}, 110K, common; IsoId=Q969H0-1; Sequence=Displayed; Name=2; Synonyms=Archipelago beta, FBW7beta {ECO:0000303|PubMed:17873522}, 69K; IsoId=Q969H0-2; Sequence=VSP_009483, VSP_009484; Name=3; Synonyms=Archipelago gamma, FBW7gamma {ECO:0000303|PubMed:17873522, ECO:0000303|PubMed:25775507}, Hippocampal; IsoId=Q969H0-4; Sequence=VSP_009482, VSP_009485; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleoplasm {ECO:0000269|PubMed:17558397, ECO:0000269|PubMed:25775507, ECO:0000269|PubMed:28007894}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:17558397, ECO:0000269|PubMed:28007894}.; SUBCELLULAR LOCATION: Isoform 3: Nucleus, nucleolus {ECO:0000269|PubMed:17558397, ECO:0000269|PubMed:25775507, ECO:0000269|PubMed:28007894}.


uniprotID: Q7Z6M2
geneSymbol: FBXO33
name: F-box only protein 33
length: 555
go: ENSG00000165355;
opentargets: protein ubiquitination [GO:0016567]
sequence:


uniprotID: P31994
geneSymbol: FCGR2B
reactome: R-HSA-198933;
pdb: 2FCB;3WJJ;5OCC;
length: 310
go: ENSG00000072694;
snps: rs5017567 rs1050499 rs1050501 rs148534844
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Low affinity immunoglobulin gamma Fc region receptor II-b (IgG Fc receptor II-b) (CDw32) (Fc-gamma RII-b) (Fc-gamma-RIIb) (FcRII-b) (CD antigen CD32)

sequence:

opentargets:
cell body [GO:0044297]; dendritic spine [GO:0043197]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; IgG binding [GO:0019864]; low-affinity IgG receptor activity [GO:0019772]; protein-containing complex binding [GO:0044877]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cellular response to amyloid-beta [GO:1904646]; cellular response to molecule of bacterial origin [GO:0071219]; cerebellum development [GO:0021549]; defense response [GO:0006952]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; follicular B cell differentiation [GO:0002316]; follicular dendritic cell activation [GO:0002266]; immune complex clearance by monocytes and macrophages [GO:0002436]; immune response [GO:0006955]; immunoglobulin mediated immune response [GO:0016064]; inflammatory response [GO:0006954]; mature B cell differentiation involved in immune response [GO:0002313]; negative regulation of acute inflammatory response to antigenic stimulus [GO:0002865]; negative regulation of antibody-dependent cellular cytotoxicity [GO:0001814]; negative regulation of B cell activation [GO:0050869]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of cytokine secretion [GO:0050710]; negative regulation of cytotoxic T cell degranulation [GO:0043318]; negative regulation of dendritic cell antigen processing and presentation [GO:0002605]; negative regulation of dendritic cell differentiation [GO:2001199]; negative regulation of humoral immune response mediated by circulating immunoglobulin [GO:0002924]; negative regulation of immune response [GO:0050777]; negative regulation of immunoglobulin production [GO:0002638]; negative regulation of interleukin-10 production [GO:0032693]; negative regulation of macrophage activation [GO:0043031]; negative regulation of neutrophil activation [GO:1902564]; negative regulation of phagocytosis [GO:0050765]; negative regulation of type I hypersensitivity [GO:0001811]; phagocytosis, engulfment [GO:0006911]; positive regulation of humoral immune response [GO:0002922]; positive regulation of JNK cascade [GO:0046330]; positive regulation of neuron death [GO:1901216]; positive regulation of phagocytosis [GO:0050766]; positive regulation of response to endoplasmic reticulum stress [GO:1905898]; receptor-mediated endocytosis [GO:0006898]; regulation of adaptive immune response [GO:0002819]; regulation of B cell antigen processing and presentation [GO:0002622]; regulation of dendritic spine maintenance [GO:1902950]; regulation of immune complex clearance by monocytes and macrophages [GO:0090264]; regulation of immune response [GO:0050776]; regulation of innate immune response [GO:0045088]; regulation of signaling receptor activity [GO:0010469]; response to bacterium [GO:0009617]; signal transduction [GO:0007165]; viral process [GO:0016032]

drug:
DB00054;DB00051;DB00092;DB00087;DB00098;DB00074;DB00112;DB00002;DB00111;DB00095;DB00005;DB00056;DB00078;DB00028;DB00075;DB00108;DB00110;DB00073;DB00081;DB00072;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=IIB1 {ECO:0000303|PubMed:2529342}; IsoId=P31994-1; Sequence=Displayed; Name=IIB2 {ECO:0000303|PubMed:2529342}; IsoId=P31994-2; Sequence=VSP_002643; Name=IIB3 {ECO:0000303|PubMed:2529342}; IsoId=P31994-3; Sequence=VSP_002642; Name=4; IsoId=P31994-4; Sequence=VSP_058635; Name=5; IsoId=P31994-5; Sequence=VSP_058635, VSP_002643; 


uniprotID: Q13643
geneSymbol: FHL3
pdb: 1WYH;2CUQ;2EHE;
name: Four and a half LIM domains protein 3 (FHL-3) (Skeletal muscle LIM-protein 2) (SLIM-2)
length: 280
go: ENSG00000183386;
sequence:

opentargets:
focal adhesion [GO:0005925]; nucleus [GO:0005634]; stress fiber [GO:0001725]; Z disc [GO:0030018]; actin binding [GO:0003779]; metal ion binding [GO:0046872]; actin cytoskeleton organization [GO:0030036]; muscle organ development [GO:0007517]


uniprotID: Q5SY85
geneSymbol: FAM201A
name: Protein FAM201A
length: 155
sequence:
MGLRAGSRCRADHLAQPQPQGHLAPVLRCGECWRARGLPGGCCLHTEGGCSLGAQAGWRTAGWEARGRRDLGLETTSAHSRSLLHLSSWRRPDVGEAAGAELLQRAPLQQPDPAQAAVEGGLLARLPRPQDQGCGQHRPHSPRLVDIALPGGGWT


uniprotID: P49326
geneSymbol: FMO5
length: 533
go: ENSG00000131781;
snps: rs28381218 rs72549314 rs28381223
location: SUBCELLULAR LOCATION: Microsome membrane. Endoplasmic reticulum membrane.
name:
Dimethylaniline monooxygenase [N-oxide-forming] 5 (EC 1.14.13.8) (Dimethylaniline oxidase 5) (Hepatic flavin-containing monooxygenase 5) (FMO 5)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P49326-1; Sequence=Displayed; Name=2; IsoId=P49326-2; Sequence=VSP_042729, VSP_042730; Note=No experimental confirmation available.; Name=3; IsoId=P49326-3; Sequence=VSP_045616, VSP_045617; Note=No experimental confirmation available.; 


uniprotID: Q06828
geneSymbol: FMOD
reactome: R-HSA-2022854;R-HSA-2022857;R-HSA-3000178;R-HSA-3656225;R-HSA-3656243;R-HSA-3656244;
pdb: 5MX0;
length: 376
go: ENSG00000122176;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
name:
Fibromodulin (FM) (Collagen-binding 59 kDa protein) (Keratan sulfate proteoglycan fibromodulin) (KSPG fibromodulin)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; collagen fibril organization [GO:0030199]; keratan sulfate biosynthetic process [GO:0018146]; keratan sulfate catabolic process [GO:0042340]; transforming growth factor beta receptor complex assembly [GO:0007181]


uniprotID: Q8NEG0
geneSymbol: FAM71C
name: Protein FAM71C
length: 241
go: ENSG00000180219;
snps: rs11109968 rs11109969
sequence:


uniprotID: Q16877
geneSymbol: PFKFB4
reactome: R-HSA-70171;
length: 469
go: ENSG00000114268;
drug: DB04493;DB04395;
name:
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 (6PF-2-K/Fru-2,6-P2ase 4) (PFK/FBPase 4) (6PF-2-K/Fru-2,6-P2ase testis-type isozyme) [Includes: 6-phosphofructo-2-kinase (EC 2.7.1.105); Fructose-2,6-bisphosphatase (EC 3.1.3.46)]

sequence:

opentargets:
cytosol [GO:0005829]; 6-phosphofructo-2-kinase activity [GO:0003873]; ATP binding [GO:0005524]; fructose-2,6-bisphosphate 2-phosphatase activity [GO:0004331]; 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=3;  Name=1; IsoId=Q16877-1; Sequence=Displayed; Name=2; IsoId=Q16877-2; Sequence=VSP_056530; Name=3; IsoId=Q16877-3; Sequence=VSP_056621; 


uniprotID: Q9BXW9
geneSymbol: FANCD2
reactome: R-HSA-6783310;R-HSA-6796648;
name: Fanconi anemia group D2 protein (Protein FACD2)
length: 1451
go: ENSG00000144554;
sequence:

opentargets:
condensed chromosome [GO:0000793]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA polymerase binding [GO:0070182]; brain morphogenesis [GO:0048854]; cellular response to oxidative stress [GO:0034599]; DNA repair [GO:0006281]; gamete generation [GO:0007276]; interstrand cross-link repair [GO:0036297]; neuronal stem cell population maintenance [GO:0097150]; regulation of CD40 signaling pathway [GO:2000348]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of inflammatory response [GO:0050727]; regulation of regulatory T cell differentiation [GO:0045589]; response to gamma radiation [GO:0010332]; synapsis [GO:0007129]

snps:
rs34691009 rs35110529 rs36084488 rs764507146 rs35173688 rs34936017 rs121917787 rs35625434 rs34557223 rs35782247 rs36070315 rs3864017 rs35546777 rs35495399 rs121917786 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=2; IsoId=Q9BXW9-2; Sequence=Displayed; Name=1; IsoId=Q9BXW9-1; Sequence=VSP_057198; Note=Less abundant than isoform 2, may be not functional.; Name=3; IsoId=Q9BXW9-3; Sequence=VSP_013885, VSP_013886; Note=No experimental confirmation available.; Name=4; IsoId=Q9BXW9-4; Sequence=VSP_013883, VSP_013884; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11239454, ECO:0000269|PubMed:12093742, ECO:0000269|PubMed:19465921, ECO:0000269|PubMed:19465922}. Note=Concentrates in nuclear foci during S phase and upon genotoxic stress. At the onset of mitosis, excluded from chromosomes and diffuses into the cytoplasm, returning to the nucleus at the end of cell division. Observed in a few spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites and could be sites of replication fork stalling. The foci are frequently interlinked through BLM-associated ultra-fine DNA bridges. Following aphidicolin treatment, targets chromatid gaps and breaks.


uniprotID: Q53RD9
geneSymbol: FBLN7
name: Fibulin-7 (FIBL-7)
length: 439
go: ENSG00000144152;
snps: rs35586251
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
extracellular region [GO:0005576]; focal adhesion [GO:0005925]; calcium ion binding [GO:0005509]; heparin binding [GO:0008201]; cell adhesion [GO:0007155]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q53RD9-1; Sequence=Displayed; Name=2; IsoId=Q53RD9-2; Sequence=VSP_030086; Name=3; IsoId=Q53RD9-3; Sequence=VSP_030084; Name=4; IsoId=Q53RD9-4; Sequence=VSP_030085; 


uniprotID: Q9NVF7
geneSymbol: FBXO28
name: F-box only protein 28
length: 368
go: ENSG00000143756;
opentargets: condensed chromosome kinetochore [GO:0000777]; kinetochore [GO:0000776]
location: SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVF7-1; Sequence=Displayed; Name=2; IsoId=Q9NVF7-2; Sequence=VSP_047265, VSP_047266; Note=Gene prediction based on EST data.; 


uniprotID: P35556
geneSymbol: FBN2
reactome: R-HSA-1474228;R-HSA-1566948;R-HSA-2129379;
name: Fibrillin-2 [Cleaved into: Fibrillin-2 C-terminal peptide]
length: 2912
go: ENSG00000138829;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; microfibril [GO:0001527]; calcium ion binding [GO:0005509]; extracellular matrix constituent conferring elasticity [GO:0030023]; extracellular matrix structural constituent [GO:0005201]; bone trabecula formation [GO:0060346]; camera-type eye development [GO:0043010]; embryonic eye morphogenesis [GO:0048048]; embryonic limb morphogenesis [GO:0030326]; extracellular matrix organization [GO:0030198]; positive regulation of bone mineralization [GO:0030501]; positive regulation of osteoblast differentiation [GO:0045669]; sequestering of TGFbeta in extracellular matrix [GO:0035583]

snps:
rs137852826 rs548605398 rs145259927 rs154001 rs137852827 rs137852828 rs200060005 rs1206843725 rs863223567 rs149054177 rs28931602 rs137852825 rs267606802 rs78727187 rs794727560 rs200837433 rs56168072 rs2307109 rs32209 rs1801169 rs2291628 rs2291628 rs1801170 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35556-1; Sequence=Displayed; Name=2; IsoId=P35556-2; Sequence=VSP_037369, VSP_037370, VSP_037371; 


uniprotID: Q75N90
geneSymbol: FBN3
reactome: R-HSA-1474228;R-HSA-1566948;R-HSA-2129379;
name: Fibrillin-3 [Cleaved into: Fibrillin-3 C-terminal peptide]
length: 2809
go: ENSG00000142449;
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]

snps:
rs3813773 rs7246376 rs35999680 rs35277492 rs36124795 rs4804271 rs35025963 rs35579498 rs34684510 rs4804063 rs4804063 rs12975322 rs17160194 rs33967815 rs3829817 rs10404519 rs12150963 rs12608849 rs12608849 rs7245558 rs7245429 rs34167077 rs17202741 rs17160151 rs3848570 rs35477781 rs35318692 rs7257948 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:14962672}.


uniprotID: A6NHQ2
geneSymbol: FBLL1
length: 334
go: ENSG00000188573;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus. Note=Fibrillar region of the nucleolus. {ECO:0000250}.
name:
rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1 (EC 2.1.1.-) (Protein-glutamine methyltransferase)

sequence:

opentargets:
box C/D snoRNP complex [GO:0031428]; Cajal body [GO:0015030]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; small-subunit processome [GO:0032040]; histone-glutamine methyltransferase activity [GO:1990259]; RNA binding [GO:0003723]; rRNA methyltransferase activity [GO:0008649]; blastocyst hatching [GO:0001835]; box C/D snoRNA 3'-end processing [GO:0000494]; histone glutamine methylation [GO:1990258]; rRNA methylation [GO:0031167]


uniprotID: Q9Y324
geneSymbol: FCF1
reactome: R-HSA-6790901;R-HSA-6791226;
name: rRNA-processing protein FCF1 homolog
length: 198
go: ENSG00000119616;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:
MGKQKKTRKYATMKRMLSLRDQRLKEKDRLKPKKKEKKDPSALKEREVPQHPSCLFFQYNTQLGPPYHILVDTNFINFSIKAKLDLVQSMMDCLYAKCIPCITDCVMAEIEKLGQKYRVALRIAKDPRFERLPCTHKGTYADDCLVQRVTQHKCYIVATVDRDLKRRIRKIPGVPIMYISNHRYNIERMPDDYGAPRF

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]


uniprotID: Q86WN1
geneSymbol: FCHSD1
name: F-BAR and double SH3 domains protein 1
length: 690
go: ENSG00000197948;
snps: rs3749760 rs32957
sequence:

opentargets:
neuromuscular junction [GO:0031594]; recycling endosome [GO:0055037]; neuromuscular synaptic transmission [GO:0007274]; regulation of actin filament polymerization [GO:0030833]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86WN1-1; Sequence=Displayed; Name=2; IsoId=Q86WN1-2; Sequence=VSP_023160, VSP_023163; Name=3; IsoId=Q86WN1-3; Sequence=VSP_023161, VSP_023162, VSP_023164, VSP_023165; 


uniprotID: Q5TBA9
geneSymbol: FRY
name: Protein furry homolog
length: 3013
go: ENSG00000073910;
snps: rs2806639
sequence:

opentargets:
cell cortex [GO:0005938]; microtubule organizing center [GO:0005815]; spindle pole [GO:0000922]; enzyme inhibitor activity [GO:0004857]; cell morphogenesis [GO:0000902]; negative regulation of tubulin deacetylation [GO:1904428]; neuron projection development [GO:0031175]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22753416}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:22753416}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:22753416}. Note=Distributed diffusely throughout the cytoplasm in interphase. Localizes to the separating centrosomes in prophase, to the spindle poles and spindle microtubules in prometaphase to metaphase, to spindle microtubules in anaphase and to the distal sections of the midbody in cytokinesis. Colocalizes with PLK1 to separating centrosomes and spindle poles from prophase to metaphase in mitosis, but not in other stages of the cell cycle.


uniprotID: P36980
geneSymbol: CFHR2
reactome: R-HSA-977606;
pdb: 3ZD1;5EA0;
name: Complement factor H-related protein 2 (FHR-2) (DDESK59) (H factor-like 3) (H factor-like protein 2)
length: 270
go: ENSG00000080910;ENSG00000276911;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; protein-containing complex [GO:0032991]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; negative regulation of protein binding [GO:0032091]; positive regulation of cytolysis [GO:0045919]; regulation of complement activation [GO:0030449]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P36980-1; Sequence=Displayed; Name=Short; Synonyms=Truncated; IsoId=P36980-2; Sequence=VSP_001192; Note=No experimental confirmation available.; 


uniprotID: Q96RU3
geneSymbol: FNBP1
reactome: R-HSA-8856828;
pdb: 2EFL;
name: Formin-binding protein 1 (Formin-binding protein 17) (hFBP17)
length: 617
go: ENSG00000187239;
snps: rs1023000
sequence:

opentargets:
cell cortex [GO:0005938]; clathrin-coated pit [GO:0005905]; cytoplasmic vesicle [GO:0031410]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; endocytosis [GO:0006897]; membrane organization [GO:0061024]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96RU3-1; Sequence=Displayed; Name=2; IsoId=Q96RU3-2; Sequence=VSP_021695, VSP_021696; Name=3; IsoId=Q96RU3-3; Sequence=VSP_021694, VSP_021696; Name=4; IsoId=Q96RU3-4; Sequence=VSP_021693; Name=5; IsoId=Q96RU3-5; Sequence=VSP_021695; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Lysosome. Cytoplasmic vesicle. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Enriched in cortical regions coincident with F-actin. Also localizes to endocytic vesicles and lysosomes.


uniprotID: P0CH98
geneSymbol: FAM106CP
name: Putative protein FAM106C (FAM106C pseudogene)
length: 169
sequence:
MLPSTMFLVHLPLSTNRLHCLRNTSLESCLCSFVHLNHPLHISDPVILISLHEAVRFSFAFSFPRGTLSIAYCLMSSVSTSSEAIMSTELLANYCHSSLHVCICISSFPNETGNHDSFPGAVVSISDQPTDQCKLAAKELPLRNLLECRFFDCMGEEDLINLGVIGTER


uniprotID: Q15910
geneSymbol: EZH2
reactome: R-HSA-212300;R-HSA-2559580;R-HSA-3214841;R-HSA-5617472;R-HSA-8943724;R-HSA-8953750;
length: 746
go: ENSG00000106462;
pdb:
2C6V;4MI0;4MI5;5GSA;5H14;5H15;5H17;5H19;5H24;5H25;5HYN;5IJ7;5IJ8;5LS6;5U5T;5U62;5WG6;5WUK;6C23;6C24;

name:
Histone-lysine N-methyltransferase EZH2 (EC 2.1.1.43) (ENX-1) (Enhancer of zeste homolog 2) (Lysine N-methyltransferase 6)

sequence:

opentargets:
cytoplasm [GO:0005737]; ESC/E(Z) complex [GO:0035098]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pronucleus [GO:0045120]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone methyltransferase activity [GO:0042054]; histone methyltransferase activity (H3-K27 specific) [GO:0046976]; histone-lysine N-methyltransferase activity [GO:0018024]; primary miRNA binding [GO:0070878]; promoter-specific chromatin binding [GO:1990841]; protein-lysine N-methyltransferase activity [GO:0016279]; ribonucleoprotein complex binding [GO:0043021]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cardiac muscle hypertrophy in response to stress [GO:0014898]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to trichostatin A [GO:0035984]; cerebellar cortex development [GO:0021695]; chromatin organization [GO:0006325]; DNA methylation [GO:0006306]; G1 to G0 transition [GO:0070314]; hepatocyte homeostasis [GO:0036333]; hippocampus development [GO:0021766]; histone H3-K27 methylation [GO:0070734]; histone H3-K27 trimethylation [GO:0098532]; histone methylation [GO:0016571]; liver regeneration [GO:0097421]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of epidermal cell differentiation [GO:0045605]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of retinoic acid receptor signaling pathway [GO:0048387]; negative regulation of striated muscle cell differentiation [GO:0051154]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription elongation from RNA polymerase II promoter [GO:0034244]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell cycle G1/S phase transition [GO:1902808]; positive regulation of cell proliferation [GO:0008284]; positive regulation of dendrite development [GO:1900006]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of GTPase activity [GO:0043547]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; protein localization to chromatin [GO:0071168]; regulation of circadian rhythm [GO:0042752]; regulation of gliogenesis [GO:0014013]; regulation of transcription, DNA-templated [GO:0006355]; response to estradiol [GO:0032355]; response to tetrachloromethane [GO:1904772]; rhythmic process [GO:0048511]; skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration [GO:0014834]

snps:
rs193921148 rs2302427 rs587783625 rs267601394 rs267601395 rs1057519833 rs397515547 rs587783626 rs193921147 rs397515548 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q15910-1; Sequence=Displayed; Name=2; IsoId=Q15910-2; Sequence=VSP_038815; Name=3; IsoId=Q15910-3; Sequence=VSP_038814; Name=4; IsoId=Q15910-4; Sequence=VSP_038813; Note=No experimental confirmation available.; Name=5; IsoId=Q15910-5; Sequence=VSP_038813, VSP_038816; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12101246, ECO:0000269|PubMed:14532106, ECO:0000269|PubMed:15231737, ECO:0000269|PubMed:9584199}.


