ENSG00000105639


Homo sapiens

Features
Gene ID: ENSG00000105639
  
Biological name :JAK3
  
Synonyms : JAK3 / Janus kinase 3 / P52333
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.11
Gene start: 17824780
Gene end: 17848071
  
Corresponding Affymetrix probe sets: 207187_at (Human Genome U133 Plus 2.0 Array)   211108_s_at (Human Genome U133 Plus 2.0 Array)   211109_at (Human Genome U133 Plus 2.0 Array)   227677_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000391676
Ensembl peptide - ENSP00000436421
Ensembl peptide - ENSP00000432511
NCBI entrez gene - 3718     See in Manteia.
OMIM - 600173
RefSeq - XM_005259896
RefSeq - NM_000215
RefSeq - XM_011527990
RefSeq Peptide - NP_000206
swissprot - P52333
swissprot - A0A024R7M7
Ensembl - ENSG00000105639
  
Related genetic diseases (OMIM): 600802 - SCID, autosomal recessive, T-negative/B-positive type, 600802
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 jak3ENSDARG00000010252Danio rerio
 JAK3ENSGALG00000033234Gallus gallus
 Jak3ENSMUSG00000031805Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
JAK2 / O60674 / Janus kinase 2ENSG0000009696849
TYK2 / P29597 / tyrosine kinase 2ENSG0000010539740
JAK1 / P23458 / Janus kinase 1ENSG0000016243440


Protein motifs (from Interpro)
Interpro ID Name
 IPR000299  FERM domain
 IPR000719  Protein kinase domain
 IPR000980  SH2 domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR011993  PH-like domain superfamily
 IPR014352  FERM/acyl-CoA-binding protein superfamily
 IPR016251  Tyrosine-protein kinase, non-receptor Jak/Tyk2
 IPR017441  Protein kinase, ATP binding site
 IPR019749  Band 4.1 domain
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR020775  Tyrosine-protein kinase, non-receptor Jak3
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0002250 adaptive immune response IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002731 negative regulation of dendritic cell cytokine production ISS
 biological_processGO:0006468 protein phosphorylation TAS
 biological_processGO:0006954 inflammatory response IBA
 biological_processGO:0007167 enzyme linked receptor protein signaling pathway ISS
 biological_processGO:0007260 tyrosine phosphorylation of STAT protein TAS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016477 cell migration IBA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation ISS
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030183 B cell differentiation ISS
 biological_processGO:0030218 erythrocyte differentiation IBA
 biological_processGO:0032693 negative regulation of interleukin-10 production ISS
 biological_processGO:0032695 negative regulation of interleukin-12 production ISS
 biological_processGO:0035556 intracellular signal transduction ISS
 biological_processGO:0035723 interleukin-15-mediated signaling pathway TAS
 biological_processGO:0035771 interleukin-4-mediated signaling pathway IDA
 biological_processGO:0038083 peptidyl-tyrosine autophosphorylation IBA
 biological_processGO:0038110 interleukin-2-mediated signaling pathway TAS
 biological_processGO:0038111 interleukin-7-mediated signaling pathway TAS
 biological_processGO:0038113 interleukin-9-mediated signaling pathway TAS
 biological_processGO:0038114 interleukin-21-mediated signaling pathway TAS
 biological_processGO:0042102 positive regulation of T cell proliferation IBA
 biological_processGO:0042981 regulation of apoptotic process IBA
 biological_processGO:0043029 T cell homeostasis ISS
 biological_processGO:0045087 innate immune response IBA
 biological_processGO:0045221 negative regulation of FasL biosynthetic process ISS
 biological_processGO:0045626 negative regulation of T-helper 1 cell differentiation ISS
 biological_processGO:0050868 negative regulation of T cell activation ISS
 biological_processGO:0060397 JAK-STAT cascade involved in growth hormone signaling pathway TAS
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0070232 regulation of T cell apoptotic process ISS
 biological_processGO:0070244 negative regulation of thymocyte apoptotic process ISS
 biological_processGO:0070669 response to interleukin-2 TAS
 biological_processGO:0070670 response to interleukin-4 IDA
 biological_processGO:0070672 response to interleukin-15 TAS
 biological_processGO:0071104 response to interleukin-9 TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031234 extrinsic component of cytoplasmic side of plasma membrane IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity ISS
 molecular_functionGO:0004715 non-membrane spanning protein tyrosine kinase activity IBA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005102 signaling receptor binding IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019903 protein phosphatase binding IPI


Pathways (from Reactome)
Pathway description
Interleukin-7 signaling
RAF/MAP kinase cascade
Interleukin-4 and Interleukin-13 signaling
Interleukin-20 family signaling
Interleukin-15 signaling
Interleukin-9 signaling
Interleukin-2 signaling
Interleukin-21 signaling
Interleukin receptor SHC signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001287 Meningitis 
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 HP:0001508 Failure to thrive 
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 HP:0002014 Diarrhea 
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 HP:0002090 Pneumonia 
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 HP:0002733 Abnormality of the lymph nodes 
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 HP:0002788 Recurrent upper respiratory tract infections 
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 HP:0002965 Cutaneous anergy 
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 HP:0003139 Panhypogammaglobulinemia 
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 HP:0004430 Severe combined immunodeficiency "Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems." [HPO:curators]
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 HP:0005214 Intestinal obstruction 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000077238 IL4R / P24394 / interleukin 4 receptor  / complex / reaction
 ENSG00000124334 IL9R / Q01113 / interleukin 9 receptor  / complex / reaction
 ENSG00000113520 IL4 / P05112 / interleukin 4  / complex / reaction
 ENSG00000138684 IL21 / Q9HBE4 / interleukin 21  / complex
 ENSG00000168610 STAT3 / P40763 / signal transducer and activator of transcription 3  / complex / reaction
 ENSG00000166888 STAT6 / P42226 / signal transducer and activator of transcription 6  / complex / reaction
 ENSG00000145839 IL9 / P15248 / interleukin 9  / complex / reaction
 ENSG00000147168 IL2RG / P31785 / interleukin 2 receptor subunit gamma  / complex / reaction
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / complex / reaction
 ENSG00000169047 IRS1 / P35568 / insulin receptor substrate 1  / complex
 ENSG00000162434 JAK1 / P23458 / Janus kinase 1  / complex / reaction
 ENSG00000103522 IL21R / Q9HBE5 / interleukin 21 receptor  / complex
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / complex / reaction
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / complex / reaction
 ENSG00000120899 PTK2B / Q14289 / protein tyrosine kinase 2 beta  / complex / reaction
 ENSG00000138378 STAT4 / Q14765 / signal transducer and activator of transcription 4  / complex
 ENSG00000185950 IRS2 / Q9Y4H2 / insulin receptor substrate 2  / complex
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000100385 IL2RB / P14784 / interleukin 2 receptor subunit beta  / complex / reaction
 ENSG00000109471 IL2 / P60568 / interleukin 2  / complex / reaction
 ENSG00000104432 IL7 / P13232 / interleukin 7  / complex / reaction
 ENSG00000134460 IL2RA / P01589 / interleukin 2 receptor subunit alpha  / complex / reaction
 ENSG00000164136 IL15 / P40933 / interleukin 15  / complex
 ENSG00000168685 IL7R / P16871 / interleukin 7 receptor  / complex / reaction
 ENSG00000165025 SYK / P43405 / spleen associated tyrosine kinase  / complex / reaction
 ENSG00000134470 IL15RA / Q13261 / interleukin 15 receptor subunit alpha  / complex






 

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