UniProt Protein Function: | IL2RG: Common subunit for the receptors for a variety of interleukins. Defects in IL2RG are the cause of severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell- negative (XSCID); 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. Defects in IL2RG are the cause of X-linked combined immunodeficiency (XCID). 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. Belongs to the type I cytokine receptor family. Type 5 subfamily. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Receptor, cytokine Chromosomal Location of Human Ortholog: Xq13.1 Cellular Component: membrane; integral to plasma membrane; plasma membrane; external side of plasma membrane Molecular Function:protein binding; interleukin-4 receptor activity; interleukin-2 receptor activity; interleukin-7 binding; interleukin-7 receptor activity; interleukin-2 binding Biological Process: viral reproduction; immune response; signal transduction Disease: Combined Immunodeficiency, X-linked; Severe Combined Immunodeficiency, X-linked |
NCBI Summary: | The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010] |
UniProt Code: | P31785 |
NCBI GenInfo Identifier: | 400048 |
NCBI Gene ID: | 3561 |
NCBI Accession: | P31785.1 |
UniProt Secondary Accession: | P31785,Q5FC12, |
UniProt Related Accession: | P31785 |
Molecular Weight: | 369 |
NCBI Full Name: | Cytokine receptor common subunit gamma |
NCBI Synonym Full Names: | interleukin 2 receptor, gamma |
NCBI Official Symbol: | IL2RG |
NCBI Official Synonym Symbols: | P64; CIDX; IMD4; CD132; SCIDX; IL-2RG; SCIDX1 |
NCBI Protein Information: | cytokine receptor common subunit gamma; gammaC; CD132 antigen; IL-2R subunit gamma; IL-2 receptor subunit gamma; common cytokine receptor gamma chain |
UniProt Protein Name: | Cytokine receptor common subunit gamma |
UniProt Synonym Protein Names: | Interleukin-2 receptor subunit gamma; IL-2 receptor subunit gamma; IL-2R subunit gamma; IL-2RG; gammaC; p64; CD_antigen: CD132 |
Protein Family: | Cytokine receptor |
UniProt Gene Name: | IL2RG |
UniProt Entry Name: | IL2RG_HUMAN |