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Aliases for IL2RG Gene

Aliases for IL2RG Gene

  • Interleukin 2 Receptor Subunit Gamma 2 3 5
  • 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
  • Cytokine Receptor Common Subunit Gamma 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, Moderate. Among its related pathways are RET signaling and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. GO annotations related to this gene include cytokine receptor activity and interleukin-2 binding.

UniProtKB/Swiss-Prot for IL2RG Gene

  • Common subunit for the receptors for a variety of interleukins.

Gene Wiki entry for IL2RG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL2RG Gene

Genomics for IL2RG Gene

Regulatory Elements for IL2RG Gene

Enhancers for IL2RG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG071100 1.5 Ensembl ENCODE dbSUPER 8.5 +4.6 4573 13.4 HDGF PKNOX1 ATF1 ARNT WRNIP1 ZFP64 TCF12 ZNF121 ELK1 ZNF207 MED12 CXorf65 SNX12 IL2RG
GH0XG071095 1.5 Ensembl ENCODE dbSUPER 8 +14.5 14506 5.0 CREB3L1 ZNF2 ETS1 TCF12 ZNF121 GLIS2 GATA2 ZNF143 ZNF263 SP3 MED12 CXorf65 SNX12 IL2RG FOXO4
GH0XG071074 0.9 Ensembl ENCODE 12.7 +38.7 38723 0.4 RFX1 HLF MAX CEBPB CEBPG EP300 ZNF148 CEBPA STAT3 MAFK IL2RG MED12 CXorf65 RNU1-56P NUTF2P7 SNX12 GC0XM071059
GH0XG071300 1 Ensembl ENCODE 11.1 -189.9 -189850 2.0 FOXA2 JUN YY1 FOSL1 POLR2A PATZ1 HNF4G FOS PAF1 FOXA3 ZMYM3 ENSG00000228427 TAF1 MED12 IL2RG ITGB1BP2 LOC100131556
GH0XG071052 0.9 Ensembl ENCODE 11.9 +58.8 58808 1.0 PKNOX1 MXI1 NFYA MAX SIN3A E2F4 SP1 ARID3A POLR2A NFYB FOXO4 RNU1-56P NUTF2P7 IL2RG MED12 SOCS5P4 GC0XM071059
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IL2RG on UCSC Golden Path with GeneCards custom track

Promoters for IL2RG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247105 808 1401 HDGF TBP PKNOX1 MXI1 ETV1 WRNIP1 ZBTB40 RELA EGR1 POLR2A

Genomic Location for IL2RG Gene

Chromosome:
X
Start:
71,107,404 bp from pter
End:
71,112,108 bp from pter
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. 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

  • Ubiquitination at isoforms=164, posLast=207207, isoforms=2217, isoforms=2294, and posLast=315315
  • Glycosylation at isoforms=24, isoforms=71, isoforms=75, isoforms=84, isoforms=159, and posLast=249249
  • Modification sites at PhosphoSitePlus

Other Protein References for IL2RG Gene

Antibody Products

  • R&D Systems Antibodies for IL2RG (Common gamma Chain/IL-2 R gamma)

Protein Products

Assay Products

  • Cloud-Clone Corp. Assay Kits for IL2RG

No data available for DME Specific Peptides for IL2RG Gene

Domains & Families for IL2RG Gene

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

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)
UniProtKB/Swiss-Prot Function:
Common subunit for the receptors for a variety of interleukins.

Gene Ontology (GO) - Molecular Function for IL2RG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IEA --
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:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
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

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for IL2RG (Common gamma Chain/IL-2 R gamma)

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

Localization for IL2RG Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL2RG Gene

Membrane; Single-pass type I membrane protein.

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
extracellular 3
cytoskeleton 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for IL2RG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8514792
GO:0009897 external side of plasma membrane ISS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with IL2RG: view

Pathways & Interactions for IL2RG Gene

SuperPathways for IL2RG Gene

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

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 IEA --
genes like me logo Genes that share ontologies with IL2RG: view

Drugs & Compounds for IL2RG Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aldesleukin Approved Pharma inhibitor, modulator, Target, agonist 405
Denileukin diftitox Approved, Investigational Pharma binder, Target 47
Proleukin Approved January 1998 Pharma 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

Unigene Clusters for IL2RG Gene

Interleukin 2 receptor, gamma:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for IL2RG (Common gamma Chain/IL-2 R gamma)

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
ECgene alternative splicing isoforms for
IL2RG

Expression for IL2RG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for IL2RG Gene



Protein tissue co-expression partners for IL2RG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IL2RG Gene:

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(2.8)
  • 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
Organs:
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

Primer Products

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 34
  • 99.6 (n)
IL2RG 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IL2RG 34 35
  • 87.86 (n)
cow
(Bos Taurus)
Mammalia IL2RG 34 35
  • 85.48 (n)
rat
(Rattus norvegicus)
Mammalia Il2rg 34
  • 82.07 (n)
mouse
(Mus musculus)
Mammalia Il2rg 34 16 35
  • 80.94 (n)
Gm20489 35
  • 40 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia IL2RG 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL2RG 34 35
  • 56.12 (n)
lizard
(Anolis carolinensis)
Reptilia IL2RG 35
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492995 34
  • 50.43 (n)
zebrafish
(Danio rerio)
Actinopterygii il2rgb 34 35
  • 46.81 (n)
il2rga 35
  • 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)

Paralogs for IL2RG Gene

No data available for Paralogs for IL2RG Gene

Variants for IL2RG Gene

Sequence variations from dbSNP and Humsavar for IL2RG Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs111033617 Pathogenic, Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] 71,108,599(-) GGAAC(A/G)GTGAG upstream-variant-2KB, reference, missense
rs111033618 Pathogenic, X-linked combined immunodeficiency (XCID) [MIM:312863] 71,109,321(-) CGTTT(C/T)GTGTT reference, missense
rs111033620 Pathogenic, Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] 71,110,617(-) TTCTG(A/G)CTGTC reference, missense
rs111033621 Pathogenic, Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] 71,110,292(-) AGTGA(A/T)CCCCT reference, missense
rs111033622 Pathogenic, Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] 71,110,615(-) CTGGC(C/T)GTCAG reference, missense

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)

Relevant External Links for IL2RG Gene

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

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

Disorders for IL2RG Gene

MalaCards: The human disease database

(10) MalaCards diseases for IL2RG Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
severe combined immunodeficiency, x-linked
  • gamma chain deficiency
combined immunodeficiency, x-linked, moderate
  • x-linked combined immunodeficiency
omenn syndrome
  • combined immunodeficiency with hypereosinophilia
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.

Relevant External Links for IL2RG

Genetic Association Database (GAD)
IL2RG
Human Genome Epidemiology (HuGE) Navigator
IL2RG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IL2RG
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. (Genet. Med. 2004) 3 22 46 64
  2. An interleukin-2 receptor gamma chain mutation with normal thymus morphology. (PMID: 9399950) Sharfe N. … Roifman C.M. (J. Clin. Invest. 1997) 3 4 22 64
  3. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. (PMID: 7883965) Schmalstieg F.C. … Goldman A.S. (J. Clin. Invest. 1995) 2 3 4 64
  4. Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis. (PMID: 7557965) Clark P.A. … Kinnon C. (Hum. Genet. 1995) 3 4 22 64
  5. Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. (PMID: 7668284) Pepper A.E. … Puck J.M. (Am. J. Hum. Genet. 1995) 3 4 22 64

Products for IL2RG Gene

Sources for IL2RG Gene

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