| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Cytokine receptor common subunit gamma
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| http://www.biopax.org/relea... |
IL2RG_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
CD132,
IL-2 receptor subunit gamma,
IL-2R subunit gamma,
IL-2RG,
Interleukin-2 receptor subunit gamma,
gammaC,
p64
|
| http://www.biopax.org/relea... |
FUNCTION: Common subunit for the receptors for a variety of interleukins. SUBUNIT: The gamma subunit is common to the IL2, IL4, IL7, IL15, IL21 and probably also the IL13 receptors. Interacts with SHB upon interleukin stimulation. Interacts with HTLV-1 accessory protein p12I. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. DOMAIN: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. DOMAIN: The box 1 motif is required for JAK interaction and/or activation. DISEASE: Defects in IL2RG are the cause of severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell- negative (XSCID) [MIM:300400]; 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. DISEASE: Defects in IL2RG are the cause of X-linked combined immunodeficiency (XCID) [MIM:312863]. 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. SIMILARITY: Belongs to the type I cytokine receptor family. Type 5 subfamily. SIMILARITY: Contains 1 fibronectin type-III domain. WEB RESOURCE: Name=IL2RGbase; Note=X-linked SCID mutation database; URL="http://research.nhgri.nih.gov/scid/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IL2RG"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il2rg/"; COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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