Gene table of JAK3 : Janus kinase 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with JAK3OMIM linkNumber of associated genesgenes
600802SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVEClinVar, OMIM link to OMIM 1JAK3

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Annotation of the gene JAK3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Signaling pathways regulating pluripotency of stem cellshsa045505.6
Viral carcinogenesishsa052035.08
Jak-STAT signaling pathwayhsa046305.44
Epstein-Barr virus infectionhsa051694.97
Primary immunodeficiencyhsa053407.52
HTLV-I infectionhsa051664.59
Chemokine signaling pathwayhsa040625.19
Measleshsa051625.6
PI3K-Akt signaling pathwayhsa041514.21
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.85
FCERI mediated MAPK activationR-HSA-28717964.32
Signaling by InterleukinsR-HSA-4491474.71
GPVI-mediated activation cascadeR-HSA-1146047.18
Immune SystemR-HSA-1682562.37
Frs2-mediated activationR-HSA-1709685.12
Cytokine Signaling in Immune systemR-HSA-12802153.74
IGF1R signaling cascadeR-HSA-24289244.85
Downstream signal transductionR-HSA-1867634.65
IRS-related events triggered by IGF1RR-HSA-24289284.85
Signaling by ERBB4R-HSA-12363944.7
DAP12 interactionsR-HSA-21721274.56
MAPK1/MAPK3 signalingR-HSA-56849965.11
Developmental BiologyR-HSA-12667383.48
RAF/MAP kinase cascadeR-HSA-56730015.15
Downstream signaling of activated FGFR1R-HSA-56546874.71
MAPK family signaling cascadesR-HSA-56830574.89
Signalling by NGFR-HSA-1665204.23
Signaling by VEGFR-HSA-1941384.66
Signalling to p38 via RIT and RINR-HSA-1877065.12
Platelet activation, signaling and aggregationR-HSA-760025.15
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.26
IRS-mediated signallingR-HSA-1123994.87
FRS-mediated FGFR2 signalingR-HSA-56547005.14
SOS-mediated signallingR-HSA-1124125.15
FRS-mediated FGFR3 signalingR-HSA-56547065.14
Signaling by Insulin receptorR-HSA-747524.73
Downstream signaling of activated FGFR3R-HSA-56547084.71
Insulin receptor signalling cascadeR-HSA-747514.85
Signaling by FGFR4R-HSA-56547434.69
Signaling by FGFR3R-HSA-56547414.69
VEGFA-VEGFR2 PathwayR-HSA-44200974.7
GRB2 events in ERBB2 signalingR-HSA-19636405.15
Signaling by FGFRR-HSA-1902364.67
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
GPCR downstream signalingR-HSA-3883963.07
Signaling by ERBB2R-HSA-12279864.66
Interleukin receptor SHC signalingR-HSA-9125265.09
Innate Immune SystemR-HSA-1682493.17
Signaling by SCF-KITR-HSA-14335574.73
Interleukin-2 signalingR-HSA-4519275.05
SHC1 events in ERBB2 signalingR-HSA-12501965.15
NCAM signaling for neurite out-growthR-HSA-3751654.9
G beta:gamma signalling through PI3KgammaR-HSA-3924517.4
DAP12 signalingR-HSA-24244914.64
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.99
Interleukin-7 signalingR-HSA-12666959.52
Downstream signaling of activated FGFR2R-HSA-56546964.71
SHC1 events in ERBB4 signalingR-HSA-12503475.15
SHC1 events in EGFR signalingR-HSA-1803365.15
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.51
FRS-mediated FGFR1 signalingR-HSA-56546935.14
Prolonged ERK activation eventsR-HSA-1698935.11
Signaling by LeptinR-HSA-25865525.1
Signaling by GPCRR-HSA-3727902.68
Signaling by FGFR2R-HSA-56547384.68
GRB2 events in EGFR signalingR-HSA-1798125.15
Signalling to ERKsR-HSA-1876875.04
Signaling by FGFR1R-HSA-56547364.69
Signalling to RASR-HSA-1670445.08
G-protein beta:gamma signallingR-HSA-3977957.31
ARMS-mediated activationR-HSA-1709845.12
FRS-mediated FGFR4 signalingR-HSA-56547125.14
Downstream signaling of activated FGFR4R-HSA-56547164.71
Signaling by PDGFR-HSA-1867974.53
Axon guidanceR-HSA-4224753.93
VEGFR2 mediated cell proliferationR-HSA-52189215.07
Signaling by EGFRR-HSA-1779294.59
HemostasisR-HSA-1095823.98
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
Ras guanyl-nucleotide exchange factor activityGO:00050884.31
purine ribonucleoside triphosphate bindingGO:00356392.22
guanyl-nucleotide exchange factor activityGO:00050854.02
enzyme bindingGO:00198992.27
bindingGO:00054880.18
molecular function regulatorGO:00987722.51
heterocyclic compound bindingGO:19013631.06
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21
nucleotide bindingGO:00001661.96
transferase activityGO:00167401.95
non-membrane spanning protein tyrosine kinase activityGO:00047155.91
protein tyrosine kinase activityGO:00047134.54
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
protein kinase activityGO:00046723.27
ATP bindingGO:00055242.43
kinase activityGO:00163012.93
nucleoside phosphate bindingGO:19012651.96
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
protein phosphatase bindingGO:00199034.93
phosphatase bindingGO:00199024.63
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
phosphotransferase activity, alcohol group as acceptorGO:00167733.08
adenyl ribonucleotide bindingGO:00325592.41
protein bindingGO:00055150.46
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
purine ribonucleotide bindingGO:00325552.2
receptor bindingGO:00051022.43
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19