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    IL2RG interleukin 2 receptor subunit gamma [ Homo sapiens (human) ]

    Gene ID: 3561, updated on 26-Sep-2021

    Summary

    Official Symbol
    IL2RGprovided by HGNC
    Official Full Name
    interleukin 2 receptor subunit gammaprovided by HGNC
    Primary source
    HGNC:HGNC:6010
    See related
    Ensembl:ENSG00000147168 MIM:308380
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P64; CIDX; IMD4; CD132; SCIDX; IL-2RG; SCIDX1
    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, Mar 2010]
    Expression
    Biased expression in lymph node (RPKM 112.7), appendix (RPKM 78.7) and 12 other tissues See more
    Orthologs
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    Genomic context

    See IL2RG in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (71107404..71111577, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70327254..70331427, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene sorting nexin 12 Neighboring gene forkhead box O4 Neighboring gene chromosome X open reading frame 65 Neighboring gene mediator complex subunit 12 Neighboring gene neuroligin 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The inhibition of IL-2R expression and proliferation induced by the interaction of CD4 with HIV-1 envelope glycoprotein gp120 is correlated with the inhibition of expression and activation of Janus kinase JAK3 PubMed
    env HIV-1 gp120 exerts a dose-dependent reduction of IL-2 mRNA expression, IL-2 production, and surface IL-2 receptor expression in CD4+ lymphocytes PubMed
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with IL2RG (CD132); predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix PubMed
    Vpu vpu HIV-1 Vpu downregulates the cell surface expression of interleukin 2 receptor, gamma (IL2RG, CD132) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cytokine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables interleukin-15 receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables interleukin-2 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to interleukin-2 receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to interleukin-4 receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to interleukin-7 receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in interleukin-15-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in interleukin-2-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interleukin-4-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interleukin-7-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome TAS
    Traceable Author Statement
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in external side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    cytokine receptor common subunit gamma
    Names
    CD132 antigen
    IL-2 receptor subunit gamma
    IL-2R subunit gamma
    common cytokine receptor gamma chain
    gammaC
    interleukin 2 receptor, gamma
    nonfunctional common cytokine receptor gamma chain

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009088.1 RefSeqGene

      Range
      4923..9150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_150

    mRNA and Protein(s)

    1. NM_000206.3NP_000197.1  cytokine receptor common subunit gamma precursor

      See identical proteins and their annotated locations for NP_000197.1

      Status: REVIEWED

      Source sequence(s)
      BC014972, DC345219
      Consensus CDS
      CCDS14406.1
      UniProtKB/Swiss-Prot
      P31785
      Related
      ENSP00000363318.3, ENST00000374202.7
      Conserved Domains (2) summary
      cd00063
      Location:154246
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl21522
      Location:59151
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      71107404..71111577 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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