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. [pr... See more...

Aliases for IL2RG Gene

Aliases for IL2RG Gene

  • Interleukin 2 Receptor Subunit Gamma 2 3 5
  • Cytokine Receptor Common Subunit Gamma 3 4
  • Interleukin 2 Receptor, Gamma 2 3
  • IL-2 Receptor Subunit Gamma 3 4
  • IL-2R Subunit Gamma 3 4
  • CD132 Antigen 3 4
  • IL-2RG 3 4
  • GammaC 3 4
  • P64 3 4
  • Nonfunctional Common Cytokine Receptor Gamma Chain 3
  • Common Cytokine Receptor Gamma Chain 3
  • Interleukin-2 Receptor Subunit Gamma 4
  • Combined Immunodeficiency, X-Linked 2
  • Severe Combined Immunodeficiency 2
  • SCIDX1 3
  • CD132 3
  • SCIDX 3
  • CIDX 3
  • IMD4 3

External Ids for IL2RG Gene

Previous HGNC Symbols for IL2RG Gene

  • SCIDX1
  • IMD4
  • CIDX

Previous GeneCards Identifiers for IL2RG Gene

  • GC0XM066501
  • GC0XM067804
  • GC0XM068559
  • GC0XM069194
  • GC0XM070110
  • GC0XM070244
  • GC0XM070246
  • GC0XM070327
  • GC0XM064146

Summaries for IL2RG Gene

Entrez Gene Summary for IL2RG Gene

  • 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]

GeneCards Summary for IL2RG Gene

IL2RG (Interleukin 2 Receptor Subunit Gamma) is a Protein Coding gene. Diseases associated with IL2RG include Severe Combined Immunodeficiency, X-Linked and Combined Immunodeficiency, X-Linked. Among its related pathways are Signaling by GPCR and RET signaling. Gene Ontology (GO) annotations related to this gene include cytokine receptor activity and interleukin-2 binding. An important paralog of this gene is ENSG00000285171.

UniProtKB/Swiss-Prot Summary for IL2RG Gene

  • Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770).

Gene Wiki entry for IL2RG Gene

Additional gene information for IL2RG Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL2RG Gene

Genomics for IL2RG Gene

GeneHancer (GH) Regulatory Elements for IL2RG Gene

Promoters and enhancers for IL2RG Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL2RG on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IL2RG

Top Transcription factor binding sites by QIAGEN in the IL2RG gene promoter:
  • COMP1
  • Evi-1
  • GR
  • GR-alpha
  • GR-beta
  • HOXA5
  • IRF-7A
  • Nkx2-5
  • p300
  • RP58

Genomic Locations for IL2RG Gene

Genomic Locations for IL2RG Gene
chrX:71,107,404-71,112,108
(GRCh38/hg38)
Size:
4,705 bases
Orientation:
Minus strand
chrX:70,327,254-70,331,958
(GRCh37/hg19)
Size:
4,705 bases
Orientation:
Minus strand

Genomic View for IL2RG Gene

Genes around IL2RG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL2RG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL2RG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL2RG Gene

Proteins for IL2RG Gene

  • Protein details for IL2RG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31785-IL2RG_HUMAN
    Recommended name:
    Cytokine receptor common subunit gamma
    Protein Accession:
    P31785
    Secondary Accessions:
    • Q5FC12

    Protein attributes for IL2RG Gene

    Size:
    369 amino acids
    Molecular mass:
    42287 Da
    Quaternary 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.
    • (Microbial infection) Interacts with HTLV-1 accessory protein p12I.

    Three dimensional structures from OCA and Proteopedia for IL2RG Gene

    Alternative splice isoforms for IL2RG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL2RG Gene

Post-translational modifications for IL2RG Gene

  • Glycosylation at Asn24, Asn249, Asn71, Asn75, Asn84, and Asn159
  • Ubiquitination at Lys207, Lys217, Lys294, Lys315, and Lys164
  • Modification sites at PhosphoSitePlus

Other Protein References for IL2RG Gene

Antibody Products

  • Boster Bio Antibodies for IL2RG

No data available for DME Specific Peptides for IL2RG Gene

Domains & Families for IL2RG Gene

Gene Families for IL2RG Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for IL2RG Gene

Blocks:
  • Short hematopoietin receptor, family 1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IL2RG Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50731, highly similar to Cytokine receptor common gamma chain (B7Z5A3_HUMAN)
  • p64 (IL2RG_HUMAN)
  • IL2RG nirs variant 5 (Q5FC09_HUMAN)
  • IL2RG nirs variant 3 (Q5FC11_HUMAN)
  • IL2RG nirs variant 1 (Q5FC13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P31785

UniProtKB/Swiss-Prot:

IL2RG_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 5 subfamily.
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.
Family:
  • Belongs to the type I cytokine receptor family. Type 5 subfamily.
genes like me logo Genes that share domains with IL2RG: view

Function for IL2RG Gene

Molecular function for IL2RG Gene

UniProtKB/Swiss-Prot Function:
Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770).
GENATLAS Biochemistry:
interleukin 2,high affinity receptor gamma chain,hematopoietic receptor family,mainly expressed in lymphoid and myeloid cell lines,also functional component of IL2R,IL4R,IL7R,IL9R,IL15R (see SCIDX1)

Gene Ontology (GO) - Molecular Function for IL2RG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IBA 21873635
GO:0004911 contributes_to interleukin-2 receptor activity TAS 8266076
GO:0004913 contributes_to interleukin-4 receptor activity TAS 8266078
GO:0004917 contributes_to interleukin-7 receptor activity TAS 8266077
GO:0005515 protein binding IPI,IEA 8266077
genes like me logo Genes that share ontologies with IL2RG: view
genes like me logo Genes that share phenotypes with IL2RG: view

Human Phenotype Ontology for IL2RG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL2RG Gene

MGI Knock Outs for IL2RG:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for IL2RG Gene

Localization for IL2RG Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL2RG Gene

Cell membrane; Single-pass type I membrane protein. Cell surface.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL2RG gene
Compartment Confidence
plasma membrane 5
endosome 4
cytosol 4
extracellular 3
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IL2RG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome TAS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8514792
GO:0009897 external side of plasma membrane ISS --
genes like me logo Genes that share ontologies with IL2RG: view

Pathways & Interactions for IL2RG Gene

PathCards logo

SuperPathways for IL2RG Gene

SuperPathway Contained pathways
1 RET signaling
2 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
.42
3 PEDF Induced Signaling
.57
.51
.47
.43
4 Th17 cell differentiation
.36
5 TGF-Beta Pathway
.60
.60
.57
.51
genes like me logo Genes that share pathways with IL2RG: view

Pathways by source for IL2RG Gene

5 GeneGo (Thomson Reuters) pathways for IL2RG Gene
  • Cytokine production by Th17 cells in CF (Mouse model)
  • Immune response IL-2 activation and signaling pathway
  • Immune response IL-22 signaling pathway
  • Immune response IL-4 signaling pathway
  • Immune response IL-9 signaling pathway
15 Qiagen pathways for IL2RG Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Glucocorticoid Receptor Signaling
  • ICos-ICosL Pathway in T-Helper Cell
  • IL-2 Pathway

SIGNOR curated interactions for IL2RG Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for IL2RG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0006955 immune response TAS 8266078
GO:0007165 signal transduction NAS 8266076
GO:0016032 viral process IEA --
GO:0019221 cytokine-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with IL2RG: view

Drugs & Compounds for IL2RG Gene

(10) Drugs for IL2RG Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aldesleukin Approved Pharma Target, agonist, inhibitor, modulator 449
Denileukin diftitox Approved, Investigational Pharma Target, binder 46
Resatorvid Investigational Pharma Target 0
CYT-107 Pharma 0
IL-2 Pharma 0

(1) Additional Compounds for IL2RG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL2RG: view

Transcripts for IL2RG Gene

mRNA/cDNA for IL2RG Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IL2RG Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
SP1: -
SP2:
SP3: - -
SP4: -

Relevant External Links for IL2RG Gene

GeneLoc Exon Structure for
IL2RG

Expression for IL2RG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IL2RG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IL2RG Gene

This gene is overexpressed in Whole Blood (x30.9).

Protein differential expression in normal tissues from HIPED for IL2RG Gene

This gene is overexpressed in Peripheral blood mononuclear cells (62.7) and CD8 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IL2RG Gene



Protein tissue co-expression partners for IL2RG Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IL2RG

SOURCE GeneReport for Unigene cluster for IL2RG Gene:

Hs.84

Evidence on tissue expression from TISSUES for IL2RG Gene

  • Liver(4.4)
  • Blood(3.9)
  • Lymph node(3)
  • Bone marrow(2.9)
  • Spleen(2.9)
  • Intestine(2.3)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL2RG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • face
  • forehead
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • esophagus
  • lung
  • thymus
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • anus
  • rectum
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with IL2RG: view

No data available for mRNA Expression by UniProt/SwissProt for IL2RG Gene

Orthologs for IL2RG Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL2RG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC101059843 30
  • 99.6 (n)
IL2RG 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IL2RG 31 30
  • 87.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IL2RG 31 30
  • 85.48 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Il2rg 30
  • 82.07 (n)
mouse
(Mus musculus)
Mammalia Il2rg 17 31 30
  • 80.94 (n)
Gm20489 31
  • 40 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia IL2RG 31
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL2RG 31 30
  • 56.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IL2RG 31
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492995 30
  • 50.43 (n)
zebrafish
(Danio rerio)
Actinopterygii il2rgb 31 30
  • 46.81 (n)
OneToMany
il2rga 31
  • 23 (a)
OneToMany
Species where no ortholog for IL2RG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IL2RG Gene

ENSEMBL:
Gene Tree for IL2RG (if available)
TreeFam:
Gene Tree for IL2RG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL2RG: view image

Paralogs for IL2RG Gene

Variants for IL2RG Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IL2RG Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
619010 Pathogenic: X-linked severe combined immunodeficiency 71,111,452(-) GC/G FRAMESHIFT_VARIANT
636787 Uncertain Significance: not provided 71,107,430(-) T/G THREE_PRIME_UTR_VARIANT
636917 Likely Pathogenic: not provided 71,110,982(-) A/T MISSENSE_VARIANT
643411 Pathogenic: X-linked severe combined immunodeficiency 71,110,152(-) TCA/T SPLICE_DONOR_VARIANT
648645 Uncertain Significance: X-linked severe combined immunodeficiency 71,110,289(-) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for IL2RG Gene

Structural Variations from Database of Genomic Variants (DGV) for IL2RG Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
esv33082 CNV loss 17666407

Variation tolerance for IL2RG Gene

Residual Variation Intolerance Score: 75.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.27; 5.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL2RG Gene

Human Gene Mutation Database (HGMD)
IL2RG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL2RG

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL2RG Gene

Disorders for IL2RG Gene

MalaCards: The human disease database

(18) MalaCards diseases for IL2RG Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
severe combined immunodeficiency, x-linked
  • scidx1
combined immunodeficiency, x-linked
  • cidx
omenn syndrome
  • os
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
lymphopenia
  • lymphocytopenia
- elite association - COSMIC cancer census association via MalaCards
Search IL2RG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IL2RG_HUMAN
  • 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. {ECO:0000269 PubMed:7557965, ECO:0000269 PubMed:7668284, ECO:0000269 PubMed:7860773, ECO:0000269 PubMed:7937790, ECO:0000269 PubMed:8027558, ECO:0000269 PubMed:8088810, ECO:0000269 PubMed:8299698, ECO:0000269 PubMed:8401490, ECO:0000269 PubMed:8900089, ECO:0000269 PubMed:9049783, ECO:0000269 PubMed:9150740}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • X-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. {ECO:0000269 PubMed:7883965, ECO:0000269 PubMed:9399950}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IL2RG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IL2RG: view

No data available for Genatlas for IL2RG Gene

Publications for IL2RG Gene

  1. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. (PMID: 14726805) Kalman L … Buckley R (Genetics in medicine : official journal of the American College of Medical Genetics 2004) 3 23 41 54
  2. An interleukin-2 receptor gamma chain mutation with normal thymus morphology. (PMID: 9399950) Sharfe N … Roifman CM (The Journal of clinical investigation 1997) 3 4 23 54
  3. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. (PMID: 7860773) Puck JM … Laframboise R (The Journal of clinical investigation 1995) 3 4 23 54
  4. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. (PMID: 7883965) Schmalstieg FC … Goldman AS (The Journal of clinical investigation 1995) 2 3 4 54
  5. Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. (PMID: 7668284) Pepper AE … Puck JM (American journal of human genetics 1995) 3 4 23 54

Products for IL2RG Gene