DAVID Bioinformatics
The Database for Annotation, Visualization and Integrated Discovery
DAVID Bioinformatics Resources 2008
National Institute of Allergy and Infectious Diseases (NIAID), NIH
DAVID Gene Report
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3026872 interleukin 2 receptor, gamma (severe combined immunodeficiency) Related Genes Homo sapiens
SP_COMMENT 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., disease:Defects in IL2RG are the cause of X-linked severe combined immunodeficiency (XSCID) [MIM:300400]; also known as agammaglobulinemia, Swiss type., 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., function:Common subunit for the receptors for a variety of interleukins., similarity:Belongs to the type I cytokine receptor family. Type 5 subfamily., similarity:Contains 1 fibronectin type-III domain., subcellular location:Membrane; Single-pass type I membrane protein., subunit:The gamma chain is common to the IL2, IL4, IL7, IL21 and probably also the IL13 receptors. Interacts with SHB upon interleukin stimulation. Interacts with HTLV-1 accessory protein p12I.,
OMIM_DISEASE Combined immunodeficiency, X-linked, moderate, Severe combined immunodeficiency, X-linked,
REFSEQ_PROTEIN NP_000197,
ENTREZ_GENE_SUMMARY The interleukin 2 (IL2) receptor gamma chain (IL2RG), an important signalling component of many interleukin receptors (IL2,IL4,IL7,IL9, and IL15), is thus referred to as the common gamma chain. Mutations in this X-chromosome-linked gene cause X-linked severe combined immunodeficiency (XSCID).,
REFSEQ_MRNA NM_000206,
GENPEPT_ACCESSION AAA59145, AAC37524, AAH14972, AAT85803, ABM86377, ABW03788, BAA01857, BAA03861, BAD89384, BAD89385, BAD89386, BAD89388, EAX05319, Genomic_DNA, JOINED, Unassigned_DNA, mRNA,
GENE_SYMBOL IL2RG,
GENE_NAME CD132 antigen, Cytokine receptor common gamma chain precursor, Cytokine receptor common gamma chain precursor (Gamma-C) (Interleukin- 2 receptor gamma chain) (IL-2R gamma chain) (p64) (CD132 antigen), Gamma-C, IL-2R gamma chain, IL2RG nirs variant 1, IL2RG nirs variant 2, IL2RG nirs variant 5, Interleukin 2 receptor gamma chain, Interleukin 2 receptor gamma chain (Fragment), Interleukin-2 receptor gamma chain, interleukin 2 receptor, gamma (severe combined immunodeficiency), p64,
GENERIF_SUMMARY The immature form of the gamma(c) chain is a 54-58 kDa intracellular component localized in the endoplasmic reticulum of resting, unstimulated CD4 T cells., Alternate signalling pathways from the interleukin-2 receptor, Here we show, in four cell lines of human adult T cell lymphoma/leukemia origin, that the three IL-2R subunits are compartmented together with HLA glycoproteins and CD48 molecules in the plasma membrane, presence of membrane-associated as well as soluble gamma c in cell lysates and cell free supernatants from peripheral blood lymphocyte cultures; panel of human serum samples was examined and compared with sIL-2R, SHB links IL2 receptor for signal transduction and mediates apoptosis, In normal lung fibroblasts IL-4 & IL-13 induce gamma c chain & its association with JAK3. In myofibroblasts, constitutive gamma c chain together with JAK3 controls TYK2 phosphorylation & the balance between functional & decoy high-affinity receptors., Human IL-21 and IL-4 bind to partially overlapping epitopes of common gamma-chain., The development of breast tumour is associated with an increased expression of IL-2 receptor gamma and this expression also seems to be associated with the malignancy of the tumour., A mutation in this locus resulting in severe combined immunodeficiency, initially diagnosed as HIV infection., the crystal structure, at 2.3 A resolution, of the quaternary complex of IL-2 with the extracellular domains of receptors IL-2R alpha, IL-2Rss, and gamma c., The common cytokine receptor gamma-chain is a required signaling subunit of the growth hormone receptor (GHR) complex in B cell lines. Genetic alteration of the IL2RG gene results in growth failure in X-linked severe combined immunodeficiency (X-SCID)., results confirm that signal transduction via the IL-15R, and hence NK ontogeny, is preferentially retained relative to the IL-7R as gammac expression becomes limiting.,
CHROMOSOME X,
ENTREZ_GENE_ID 3561,
PIR_SUMMARY Common subunit for the receptors for a variety of interleukins.,
UNIGENE Hs.84,
UNIREF100_ID UniRef100_P31785,
PIR_NREF_ID NF00083903, NF00117807, NF02322187, NF02322749, NF02323028,
UNIPROT_ID IL2RG_HUMAN, Q5FC09_HUMAN, Q5FC12_HUMAN, Q5FC13_HUMAN, Q6LER1_HUMAN,
CYTOBAND Xq13.1,



 Please cite Nature Protocols 2009; 4(1):44 & Genome Biology 2003; 4(5):P3 within any publication that makes use of any methods inspired by DAVID.
                          

        

                 
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