Aliases for IL2RG Gene
External Ids for IL2RG Gene
Previous HGNC Symbols for IL2RG Gene
Previous GeneCards Identifiers for IL2RG Gene
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]
GeneCards Summary for IL2RG Gene
IL2RG (Interleukin 2 Receptor Subunit Gamma) is a Protein Coding gene. Diseases associated with IL2RG include Severe Combined Immunodeficiency, X-Linked and Combined Immunodeficiency, X-Linked. Among its related pathways are RET signaling and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. Gene Ontology (GO) annotations related to this gene include cytokine receptor activity and interleukin-2 binding. An important paralog of this gene is ENSG00000285171.
UniProtKB/Swiss-Prot Summary for IL2RG Gene
Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770).