NP_000197.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
cytokine receptor common subunit gamma
NCBI Official Synonym Full Names
interleukin 2 receptor, gamma
NCBI Official Synonym Symbols
P64; CIDX; IMD4; CD132; SCIDX; IL-2RG; SCIDX1 [Similar Products]
NCBI Protein Information
cytokine receptor common subunit gamma; gammaC; CD132 antigen; IL-2R subunit gamma; IL-2 receptor subunit gamma; common cytokine receptor gamma chain
UniProt Protein Name
Cytokine receptor common subunit gamma
UniProt Synonym Protein Names
Interleukin-2 receptor subunit gamma; IL-2 receptor subunit gamma; IL-2R subunit gamma; IL-2RG; gammaC; p64
UniProt Synonym Gene Names
UniProt Entry Name
IL2RG_HUMAN
NCBI Summary for IL2RG
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, Mar 2010]
UniProt Comments for IL2RG
Function: Common subunit for the receptors for a variety of interleukins.
Subunit structure: 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. Ref.8 Ref.9 Ref.10 Ref.11 Ref.12
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.The box 1 motif is required for JAK interaction and/or activation.
Involvement in disease: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.25 Ref.26 Ref.27X-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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.24 Ref.28
Sequence similarities: Belongs to the type I cytokine receptor family. Type 5 subfamily.Contains 1 fibronectin type-III domain.
Research Articles on IL2RG
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Products associated with anti-IL2RG antibody
Pathways associated with anti-IL2RG antibody
Diseases associated with anti-IL2RG antibody
Organs/Tissues associated with anti-IL2RG antibody
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