IL2RG
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]
Full Name
Interleukin 2 Receptor Subunit Gamma
Function
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).
Biological Process
Cytokine-mediated signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Immune responseManual Assertion Based On ExperimentTAS:ProtInc
Interleukin-15-mediated signaling pathwayManual Assertion Based On ExperimentIMP:UniProtKB
Interleukin-2-mediated signaling pathwayIEA:GOC
Interleukin-4-mediated signaling pathwayIEA:GOC
Interleukin-7-mediated signaling pathwayIEA:GOC
Positive regulation of phagocytosisManual Assertion Based On ExperimentIMP:UniProtKB
Signal transduction1 PublicationNAS:ProtInc
Cellular Location
Cell membrane; Cell surface
Involvement in disease
Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID):
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.
X-linked combined immunodeficiency (XCID):
Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID.
Topology
Extracellular: 23-262
Helical: 263-283
Cytoplasmic: 284-369
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Datasheet