Linked Life Data

CPATH-4825

Source:http://cbio.mskcc.org/cpath#CPATH-4825

Statements in which the resource exists.
SubjectPredicateObjectContext
cpath:CPATH-4825rdf:typehttp://www.biopax.org/relea...lld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...cpath:CPATH-LOCAL-21095lld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...cpath:CPATH-LOCAL-21096lld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...cpath:CPATH-LOCAL-21097lld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...cpath:CPATH-LOCAL-21098lld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...cpath:CPATH-LOCAL-26943lld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...Cytokine receptor common subunit gammalld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...IL2RG_HUMANlld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...cpath:CPATH-LOCAL-21093lld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...p64lld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...CD132lld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...IL-2R subunit gammalld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...IL-2 receptor subunit gammalld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...IL-2RGlld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...Interleukin-2 receptor subunit gammalld:biogrid
cpath:CPATH-4825http://www.biopax.org/relea...gammaClld:biogrid
cpath:CPATH-4825http://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.lld:biogrid
cpath:CPATH-4825skos:exactMatchuniprot-protein:P31785lld:mappings
cpath:CPATH-4825skos:closeMatchentrez-gene:3561lld:mappings
cpath:CPATH-LOCAL-11088819http://www.biopax.org/relea...cpath:CPATH-4825lld:biogrid
cpath:CPATH-LOCAL-11106415http://www.biopax.org/relea...cpath:CPATH-4825lld:biogrid
cpath:CPATH-LOCAL-11116300http://www.biopax.org/relea...cpath:CPATH-4825lld:biogrid
cpath:CPATH-LOCAL-11190220http://www.biopax.org/relea...cpath:CPATH-4825lld:biogrid
cpath:CPATH-LOCAL-11299839http://www.biopax.org/relea...cpath:CPATH-4825lld:biogrid
cpath:CPATH-LOCAL-11588125http://www.biopax.org/relea...cpath:CPATH-4825lld:biogrid