InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IL2RG

Summary

InnateDB Protein

IDBP-74886.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IL2RG

Protein Name

interleukin 2 receptor, gamma

Synonyms

CD132; CIDX; IL-2RG; IMD4; P64; SCIDX; SCIDX1;

Species

Homo sapiens

Ensembl Protein

ENSP00000363318

InnateDB Gene

IDBG-74884 (IL2RG)

Protein Structure

UniProt Annotation

Function

Common subunit for the receptors for a variety of interleukins.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Severe combined immunodeficiency X-linked T-cell- negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]: 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. {ECO:0000269PubMed:7557965, ECO:0000269PubMed:7668284, ECO:0000269PubMed:7860773, ECO:0000269PubMed:7937790, ECO:0000269PubMed:8027558, ECO:0000269PubMed:8088810, ECO:0000269PubMed:8299698, ECO:0000269PubMed:8401490, ECO:0000269PubMed:8900089, ECO:0000269PubMed:9049783, ECO:0000269PubMed:9150740}. Note=The disease is caused by mutations affecting the gene represented in this entry.X-linked combined immunodeficiency (XCID) [MIM:312863]: Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. {ECO:0000269PubMed:7883965, ECO:0000269PubMed:9399950}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 32 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	32 [view]
Protein-Protein	32 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004896	cytokine receptor activity
GO:0004911	interleukin-2 receptor activity
GO:0004913	interleukin-4 receptor activity
GO:0004917	interleukin-7 receptor activity
GO:0005515	protein binding
GO:0019976	interleukin-2 binding
GO:0019982	interleukin-7 binding

Biological Process

GO:0006955	immune response
GO:0007165	signal transduction
GO:0016032	viral process
GO:0019221	cytokine-mediated signaling pathway
GO:0035771	interleukin-4-mediated signaling pathway
GO:0038110	interleukin-2-mediated signaling pathway
GO:0038111	interleukin-7-mediated signaling pathway
GO:0045087	innate immune response (InnateDB)

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0009897	external side of plasma membrane
GO:0009986	cell surface
GO:0016020	membrane