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

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: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (71107404..71111577, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (69541496..69545673, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (70327254..70331427, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PD-1 signaling negatively regulates the common cytokine receptor gamma chain via MARCH5-mediated ubiquitination and degradation to suppress anti-tumor immunity.
Title: PD-1 signaling negatively regulates the common cytokine receptor γ chain via MARCH5-mediated ubiquitination and degradation to suppress anti-tumor immunity.
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings.
Title: Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings.
NFAT1 and NFkappaB regulates expression of the common gamma-chain cytokine receptor in activated T cells.
Title: NFAT1 and NFκB regulates expression of the common γ-chain cytokine receptor in activated T cells.
Keratinocytes activated by IL-4/IL-13 express IL-2Rgamma with consequences on epidermal barrier function.
Title: Keratinocytes activated by IL-4/IL-13 express IL-2Rγ with consequences on epidermal barrier function.
Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency.
Title: Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency.
Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-) IL2rg(-/-) Rats.
Title: Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-) IL2rg(-/-) Rats.
Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID.
Title: Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID.
Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.
Title: Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Title: Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Value of serum soluble interleukin-2 receptor as a diagnostic and predictive biomarker in sarcoidosis.
Title: Value of serum soluble interleukin-2 receptor as a diagnostic and predictive biomarker in sarcoidosis.

Submit: New GeneRIF Correction See all GeneRIFs (76)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined immunodeficiency, X-linked MedGen: CN030319 OMIM: 312863 GeneReviews: Not available	Compare labs
X-linked severe combined immunodeficiency MedGen: C1279481 OMIM: 300400 GeneReviews: X-Linked Severe Combined Immunodeficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:607640 (e-PCR)
- UniSTS:158250

IL2RG (e-PCR)
- UniSTS:99642

GDB:375720 (e-PCR)
- UniSTS:157045

RH17366 (e-PCR)
- UniSTS:55172

SGC35235 (e-PCR)
- UniSTS:2967

IL2RG (e-PCR)
- UniSTS:98968

IL2RG (e-PCR)
- UniSTS:266911

IL2RG (e-PCR)
- UniSTS:98996

RH11053 (e-PCR)
- UniSTS:28117

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 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	IEA Inferred from Electronic Annotation more info
involved_in interleukin-9-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
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 more info	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

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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

NG_009088.1 RefSeqGene

Range

4923..9150

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_150

mRNA and Protein(s)

NM_000206.3 → NP_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:154 → 246

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:59 → 151

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 ...