Gene table of IL2RG : interleukin 2 receptor subunit gamma

Gene-disease associations table

Disease IDDisease nameSource of annotation with IL2RGOMIM linkNumber of associated genesgenes
312863COMBINED IMMUNODEFICIENCY, X-LINKEDClinVar, OMIM, HUMSAVAR link to OMIM 1IL2RG
300400SEVERE COMBINED IMMUNODEFICIENCY, X-LINKEDClinVar, OMIM, HUMSAVAR link to OMIM 1IL2RG

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Annotation of the gene IL2RG

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
Cytokine-cytokine receptor interactionhsa040604.67
Inflammatory bowel disease (IBD)hsa053216.43
Jak-STAT signaling pathwayhsa046305.44
Endocytosishsa041444.92
Primary immunodeficiencyhsa053407.52
HTLV-I infectionhsa051664.59
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
interleukin-7 receptor activityGO:00049179.05
signal transducer activityGO:00048712.28
interleukin-2 receptor activityGO:00049118.64
interleukin-2 bindingGO:00199768.64
interleukin-4 receptor activityGO:00049139.05
cytokine bindingGO:00199555.21
interleukin-7 bindingGO:00199829.74
guanyl-nucleotide exchange factor activityGO:00050854.02
growth factor bindingGO:00198384.89
molecular function regulatorGO:00987722.51
molecular transducer activityGO:00600892.32
transmembrane signaling receptor activityGO:00048882.57
receptor activityGO:00048722.32
protein bindingGO:00055150.46
signaling receptor activityGO:00380232.49
cytokine receptor activityGO:00048965.24
transmembrane receptor activityGO:00996002.53
bindingGO:00054880.18