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Protein Page:
IL2RG

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Receptor, cytokine
Chromosomal Location of Human Ortholog: Xq13.1
Cellular Component: external side of plasma membrane; integral to plasma membrane; membrane; plasma membrane
Molecular Function: interleukin-2 binding; interleukin-2 receptor activity; interleukin-4 receptor activity; interleukin-7 receptor activity; protein binding; Ras guanyl-nucleotide exchange factor activity
Biological Process: immune response; MAPKKK cascade
Disease: Combined Immunodeficiency, X-linked; Severe Combined Immunodeficiency, X-linked
Reference #:  P31785 (UniProtKB)
Alt. Names/Synonyms: CD132; CD132 antigen; common cytokine receptor gamma chain; common gamma-chain; Cytokine receptor common subunit gamma; gamma(c); IL-2 receptor subunit gamma; IL-2R subunit gamma; IL-2RG; IL2RG; IMD4; interleukin 2 receptor, gamma (severe combined immunodeficiency); Interleukin-2 receptor subunit gamma; p64; SCIDX; SCIDX1
Gene Symbols: IL2RG
Molecular weight: 42,287 Da
Basal Isoelectric point: 5.9  Predict pI for various phosphorylation states
CST Pathways:  PI3K/Akt Signaling
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IL2RG

Protein Structure Not Found.
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