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Description for Protein IL2RG

interleukin 2 receptor, gamma
22 total interacting proteins; 11 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • FN3: Fibronectin type 3 domain
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05070
    KEGG - Pathway(s):
    hsa04060; hsa04144; hsa04630; hsa05340
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Common cytokine receptor gamma chain; CD132 antigen; CD132; Cytokine receptor common gamma chain; Gamma C; P64; Interleukin 2 receptor gamma chain
    Approved Symbol:
    IL2RG
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Aldesleukin(db);
  • Denileukin diftitox(db)

    Associated Genetic Diseases:

  • Combined immunodeficiency, X-linked(Pd);
  • Severe combined immunodeficiency, X-linked(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02391 Entrez Gene ID: 3561 OMIM ID: 308380 Swissprot Accession: P31785;