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MGP001607

UniProt Annotations

Entry Information
Gene Nameinterleukin 2 receptor, gamma
Protein EntryIL2RG_HUMAN
UniProt IDP31785
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P31785-1; Sequence=Displayed; Name=2; IsoId=P31785-2; Sequence=VSP_047581, VSP_047582;
DiseaseSevere combined immunodeficiency X-linked T-cell- negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269|PubMed:7557965, ECO:0000269|PubMed:7668284, ECO:0000269|PubMed:7860773, ECO:0000269|PubMed:7937790, ECO:0000269|PubMed:8027558, ECO:0000269|PubMed:8088810, ECO:0000269|PubMed:8299698, ECO:0000269|PubMed:8401490, ECO:0000269|PubMed:8900089, ECO:0000269|PubMed:9049783, ECO:0000269|PubMed:9150740}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseX-linked combined immunodeficiency (XCID) [MIM:312863]: Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. {ECO:0000269|PubMed:7883965, ECO:0000269|PubMed:9399950}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe box 1 motif is required for JAK interaction and/or activation.
DomainThe WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding.
FunctionCommon subunit for the receptors for a variety of interleukins.
InteractionP13232:IL7; NbExp=2; IntAct=EBI-80475, EBI-80516;
SimilarityBelongs to the type I cytokine receptor family. Type 5 subfamily. {ECO:0000305}.
SimilarityContains 1 fibronectin type-III domain. {ECO:0000255|PROSITE-ProRule:PRU00316}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
SubunitThe gamma subunit is common to the IL2, IL4, IL7, IL15, IL21 and probably also the IL13 receptors. Interacts with SHB upon interleukin stimulation. Interacts with HTLV-1 accessory protein p12I. {ECO:0000269|PubMed:12200137, ECO:0000269|PubMed:16293754, ECO:0000269|PubMed:16477002, ECO:0000269|PubMed:8648694}.
Web ResourceName=IL2RGbase; Note=X-linked SCID mutation database; URL="http://research.nhgri.nih.gov/scid/";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il2rg/";
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