ID:IL2RG_HUMAN DESCRIPTION: RecName: Full=Cytokine receptor common subunit gamma; AltName: Full=Interleukin-2 receptor subunit gamma; Short=IL-2 receptor subunit gamma; Short=IL-2R subunit gamma; Short=IL-2RG; AltName: Full=gammaC; AltName: Full=p64; AltName: CD_antigen=CD132; Flags: Precursor; FUNCTION: Common subunit for the receptors for a variety of interleukins. SUBUNIT: The 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. INTERACTION: P13232:IL7; NbExp=2; IntAct=EBI-80475, EBI-80516; SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. DOMAIN: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. DOMAIN: The box 1 motif is required for JAK interaction and/or activation. DISEASE: Defects in IL2RG are the cause of severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell- negative (XSCID) [MIM:300400]; also known as agammaglobulinemia Swiss type. 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. DISEASE: Defects in IL2RG are the cause of X-linked combined immunodeficiency (XCID) [MIM:312863]. XCID is a less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. SIMILARITY: Belongs to the type I cytokine receptor family. Type 5 subfamily. SIMILARITY: Contains 1 fibronectin type-III domain. WEB RESOURCE: Name=IL2RGbase; Note=X-linked SCID mutation database; URL="http://research.nhgri.nih.gov/scid/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IL2RG"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il2rg/";
Protein Domain and Structure Information
Press "+" in the title bar above to open this section.
Other Names for This Gene
Press "+" in the title bar above to open this section.
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.
