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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
  • 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 HTLV-I infection and Th17 Differentiation Pathway. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around IL2RG on UCSC Golden Path with GeneCards custom track

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

Proteomics data for IL2RG Gene at MOPED

Post-translational modifications for IL2RG Gene

  • Ubiquitination at Lys 164, Lys 207, Lys 217, Lys 294, and Lys 315
  • Glycosylation at Asn 24, Asn 71, Asn 75, Asn 84, Asn 159, and Asn 249
  • 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)

No data available for DME Specific Peptides for IL2RG Gene

Domains & Families for IL2RG Gene

Protein Domains 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.
  • Contains 1 fibronectin type-III domain.
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:0005515 protein binding IEA,IPI 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

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
Jensen Localization Image for IL2RG Gene COMPARTMENTS Subcellular localization image for IL2RG gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 1
cytosol 1
lysosome 1
nucleus 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for IL2RG Gene

Pathways & Interactions for IL2RG Gene

SuperPathways for IL2RG Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 IL-7 Signaling Pathways
3 PEDF Induced Signaling
4 TGF-Beta Pathway
5 Akt Signaling
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:0000186 activation of MAPKK activity TAS --
GO:0007165 signal transduction NAS 8266076
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007411 axon guidance TAS --
GO:0008286 insulin receptor 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, FDA Approved Drugs, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aldesleukin Approved Pharma inhibitor, modulator, Target, agonist 389
Denileukin diftitox Approved, Investigational Pharma binder, Target 48
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:

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 (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, MOPED, and MaxQB for IL2RG Gene



SOURCE GeneReport for Unigene cluster for IL2RG Gene Hs.84

genes like me logo Genes that share expression patterns with IL2RG: view

Protein tissue co-expression partners for IL2RG Gene

- Elite partner

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
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 Il2rg 35
  • 80.94 (n)
  • 71.84 (a)
Il2rg 16
Gm20489 36
  • 40 (a)
OneToMany
Il2rg 36
  • 70 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia LOC101059843 35
  • 99.6 (n)
  • 99.4 (a)
IL2RG 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Il2rg 35
  • 82.07 (n)
  • 74.46 (a)
oppossum
(Monodelphis domestica)
Mammalia IL2RG 36
  • 58 (a)
OneToOne
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 il2rgb 35
  • 46.81 (n)
  • 32.35 (a)
il2rga 36
  • 23 (a)
OneToMany
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
VAR_002668 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
VAR_002669 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
VAR_002670 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
VAR_002671 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
VAR_002672 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)

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

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

Disorders for IL2RG Gene

MalaCards: The human disease database

(9) 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
  • xscid
combined immunodeficiency, x-linked, moderate
  • x-linked combined immunodeficiency
gamma chain deficiency
  • scid-x1
omenn syndrome
  • reticuloendotheliosis familial with eosinophilia
severe combined immunodeficiency
  • adenosine deaminase deficiency
- 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. 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 67
  2. Limiting {gamma}c expression differentially affects signaling via the interleukin (IL)-7 and IL-15 receptors. (PMID: 17363735) Smyth C.M. … Alexander I.E. (Blood 2007) 3 25
  3. Crystal structure of the IL-2 signaling complex: paradigm for a heterotrimeric cytokine receptor. (PMID: 16477002) Stauber D.J. … Wilson I.A. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 25
  4. Functional interaction of common gamma-chain and growth hormone receptor signaling apparatus. (PMID: 17082603) Adriani M. … Pignata C. (J. Immunol. 2006) 3 23
  5. A novel mutation in the interleukin-2 receptor gamma gene as the cause of lymphopenia in a neonate vertically exposed to human immunodeficiency virus. (PMID: 15702055) Neubert J. … Niehues T. (Pediatr. Infect. Dis. J. 2005) 3 23

Products for IL2RG Gene

Sources for IL2RG Gene

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