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

Gene ID: 3561, updated on 19-Sep-2024

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; AllianceGenome:HGNC:6010
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (71107404..71111577, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (69541496..69545673, complement)
RS_2024_09 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 Sharpr-MPRA regulatory region 4327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:70320272-70320882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29736 Neighboring gene forkhead box O4 Neighboring gene chromosome X open reading frame 65 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:70330888-70332087 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599 Neighboring gene mediator complex subunit 12 Neighboring gene uncharacterized LOC124905197 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:70365507-70365762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:70367337-70367883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:70367884-70368430 Neighboring gene neuroligin 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables coreceptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cytokine binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables cytokine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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 CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in interleukin-4-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in interleukin-7-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in interleukin-9-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in lymphocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mature B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of T cell differentiation in thymus IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression 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 endoplasmic reticulum IDA
Inferred from Direct Assay
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
 
located_in external side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IC
Inferred by Curator
more info
PubMed 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
 

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, Q5FC12
    UniProtKB/TrEMBL
    B2RC41
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047442089.1XP_047298045.1  cytokine receptor common subunit gamma isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y437, H0Y8J6
    Related
    ENSP00000421262.2, ENST00000482750.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    69541496..69545673 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327012.1XP_054182987.1  cytokine receptor common subunit gamma isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y437, H0Y8J6