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Aliases for IL2RG Gene

Aliases for IL2RG Gene

  • Interleukin 2 Receptor, Gamma 2 3
  • IL-2 Receptor Subunit Gamma 3 4
  • IL-2R Subunit Gamma 3 4
  • CD132 Antigen 3 4
  • SCIDX1 3 6
  • IL-2RG 3 4
  • GammaC 3 4
  • SCIDX 3 6
  • IMD4 3 6
  • 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
  • CD132 3
  • CIDX 3

External Ids for IL2RG Gene

Previous Symbols for IL2RG Gene

  • SCIDX1
  • IMD4
  • CIDX

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, 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 PI3K-Akt signaling pathway and Akt Signaling. GO annotations related to this gene include interleukin-2 receptor activity and interleukin-4 receptor activity.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL2RG Gene

Genomics for IL2RG Gene

Genomic Location for IL2RG Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IL2RG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL2RG Gene

Regulatory Elements 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

Proteomics data for IL2RG Gene at MOPED

Post-translational modifications for IL2RG Gene

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

Other Protein References for IL2RG Gene

No data available for DME Specific Peptides for IL2RG Gene

Domains for IL2RG Gene

Gene Families for IL2RG Gene

HGNC:
  • CD :CD molecules
  • FN3 :Fibronectin type III domain containing
  • IL :Interleukins and interleukin receptors
IUPHAR :

Protein Domains for IL2RG Gene

Graphical View of Domain Structure for InterPro Entry

P31785

UniProtKB/Swiss-Prot:

IL2RG_HUMAN
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding:
    • P31785
  • The box 1 motif is required for JAK interaction and/or activation:
    • P31785
  • Contains 1 fibronectin type-III domain.:
    • P31785
Family:
  • Belongs to the type I cytokine receptor family. Type 5 subfamily.:
    • P31785
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 --
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 12504082
genes like me logo Genes that share ontologies with IL2RG: view
genes like me logo Genes that share phenotypes with IL2RG: view

Animal Models for IL2RG Gene

MGI Knock Outs for IL2RG:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for IL2RG Gene COMPARTMENTS Subcellular localization image for IL2RG gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytosol 1
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for IL2RG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8514792
GO:0009897 external side of plasma membrane ISS --
GO:0009986 cell surface --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with IL2RG: view

Pathways for IL2RG Gene

genes like me logo Genes that share pathways with IL2RG: view

Gene Ontology (GO) - Biological Process for IL2RG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response TAS 8266078
GO:0007165 signal transduction NAS 8266076
GO:0016032 viral process IEA --
GO:0019221 cytokine-mediated signaling pathway --
GO:0035771 interleukin-4-mediated signaling pathway TAS 8266078
genes like me logo Genes that share ontologies with IL2RG: view

Compounds for IL2RG Gene

(2) Drugbank Compounds for IL2RG Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Aldesleukin
  • IL-2
85898-30-2 target agonist
Denileukin diftitox
  • Diphtheria toxin precursor
173146-27-5 target

(3) Novoseek inferred chemical compound relationships for IL2RG Gene

Compound -log(P) Hits PubMed IDs
tyrosine 19.7 1
gnrh 0 1
cyclosporin a 0 1
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:

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 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 (30.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IL2RG Gene

SOURCE GeneReport for Unigene cluster for IL2RG Gene Hs.84

genes like me logo Genes that share expressions 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 IL2RG 36
  • 99 (a)
OneToOne
LOC101059843 35
  • 99.6 (n)
  • 99.4 (a)
cow
(Bos Taurus)
Mammalia IL2RG 35
  • 85.48 (n)
  • 81.37 (a)
IL2RG 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IL2RG 35
  • 87.86 (n)
  • 84.51 (a)
IL2RG 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm20489 36
  • 40 (a)
OneToMany
Il2rg 35
  • 80.94 (n)
  • 71.84 (a)
Il2rg 16
Il2rg 36
  • 70 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia IL2RG 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Il2rg 35
  • 82.07 (n)
  • 74.46 (a)
chicken
(Gallus gallus)
Aves IL2RG 35
  • 56.12 (n)
  • 43.2 (a)
IL2RG 36
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IL2RG 36
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492995 35
  • 50.43 (n)
  • 38.29 (a)
zebrafish
(Danio rerio)
Actinopterygii il2rga 36
  • 23 (a)
OneToMany
il2rgb 35
  • 46.81 (n)
  • 32.35 (a)
il2rgb 36
  • 23 (a)
OneToMany
Species with no ortholog for IL2RG:
  • 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 MAF
rs4072028 -- 71,109,479(-) TAGCA(C/G)AGATG intron-variant
rs4073970 -- 71,109,942(-) tcttt(C/T)ttttt intron-variant
rs7065515 -- 71,113,178(+) gtggc(A/G)acacc upstream-variant-2KB
rs7879765 -- 71,110,883(+) CCCTC(A/G/T)TCCCT intron-variant
rs7880158 -- 71,111,160(+) gctga(C/G)gcagg intron-variant

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

Relevant External Links for IL2RG Gene

HapMap Linkage Disequilibrium report
IL2RG
Human Gene Mutation Database (HGMD)
IL2RG
Locus Specific Mutation Databases (LSDB)
IL2RG

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

Disorders for IL2RG Gene

(2) OMIM Diseases for IL2RG Gene (308380)

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.

(1) University of Copenhagen DISEASES for IL2RG Gene

(10) Novoseek inferred disease relationships for IL2RG Gene

Disease -log(P) Hits PubMed IDs
severe combined immunodeficiency, x-linked 97.9 53
severe combined immunodeficiency 80.4 14
t-all 54.5 2
lymphopenia 49.2 2
leukemia 36.2 5

Relevant External Links for IL2RG

GeneTests
IL2RG
GeneReviews
IL2RG
Genetic Association Database (GAD)
IL2RG
Human Genome Epidemiology (HuGE) Navigator
IL2RG
genes like me logo Genes that share disorders with IL2RG: view

Publications for IL2RG Gene

  1. 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 23
  2. 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 23
  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 J.M. … Laframboise R. (J. Clin. Invest. 1995) 3 4 23
  4. Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. (PMID: 7937790) Disanto J.P. … de Saint Basile G. (Proc. Natl. Acad. Sci. U.S.A. 1994) 3 4 23
  5. Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing. (PMID: 8088810) Markiewicz S. … de Saint Basile G. (Genomics 1994) 3 4 23

Products for IL2RG Gene

Sources for IL2RG Gene

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