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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. Among its related pathways are RET signaling and PEDF Induced Signaling. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for IL2RG Gene

Promoters and enhancers for IL2RG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI071100 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 558.5 +4.6 4573 13.4 HDGF PKNOX1 ATF1 SMAD1 ARNT IRF4 TCF12 ZNF121 E2F8 ZNF207 CXorf65 IL2RG MED12 SNX12 FOXO4
GH0XI071095 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 8 +14.6 14566 5.1 FOXA2 ZNF2 ETS1 TCF12 POLR2B GLIS2 GATA2 ZNF143 SP3 REST FOXO4 MED12 CXorf65 SNX12 IL2RG
GH0XI071300 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 11.1 -189.9 -189850 2 FOXA2 ZNF449 JUN YY1 FOSL1 POLR2A PATZ1 HNF4G PAF1 FOXA3 ITGB1BP2 ZMYM3 ENSG00000228427 TAF1 MED12 IL2RG LOC100131556 NONO
GH0XI071066 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7 +44.1 44100 2.6 PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A IRF4 YY1 ZNF766 SNX12 MED12 TAF1 IL2RG GC0XM071059
GH0XI071117 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 7.2 -6.6 -6629 2.6 SMAD1 RB1 NFRKB ARID4B SIN3A DEAF1 DMAP1 YY1 ZNF335 POLR2B MED12 TAF1 NONO ARR3 IL2RG GC0XP071138
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IL2RG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IL2RG gene promoter:

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)

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 posLast=164164, isoforms=2207, isoforms=2217, isoforms=2294, and isoforms=2315
  • Glycosylation at posLast=2424, posLast=7171, posLast=7575, isoforms=84, isoforms=159, and posLast=249249

Other Protein References for IL2RG Gene

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

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

Clone Products

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

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

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
cytosol 5
endosome 4
extracellular 3
cytoskeleton 1
nucleus 1
lysosome 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

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 Target, agonist, inhibitor, modulator 419
Denileukin diftitox Approved, Investigational Pharma Target, binder 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:

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(2.9)
  • 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 33
  • 99.6 (n)
IL2RG 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IL2RG 33 34
  • 87.86 (n)
cow
(Bos Taurus)
Mammalia IL2RG 33 34
  • 85.48 (n)
rat
(Rattus norvegicus)
Mammalia Il2rg 33
  • 82.07 (n)
mouse
(Mus musculus)
Mammalia Il2rg 33 16 34
  • 80.94 (n)
Gm20489 34
  • 40 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia IL2RG 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL2RG 33 34
  • 56.12 (n)
lizard
(Anolis carolinensis)
Reptilia IL2RG 34
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492995 33
  • 50.43 (n)
zebrafish
(Danio rerio)
Actinopterygii il2rgb 33 34
  • 46.81 (n)
il2rga 34
  • 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 Variation AA Info Type
rs1057515981 uncertain-significance, Severe Combined Immune Deficiency 71,109,397(-) G/A intron_variant
rs111033617 pathogenic, X-linked severe combined immunodeficiency, Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] 71,108,599(-) C/T coding_sequence_variant, missense_variant
rs111033618 pathogenic, Combined immunodeficiency, X-linked, X-linked combined immunodeficiency (XCID) [MIM:312863] 71,109,321(-) G/A coding_sequence_variant, missense_variant
rs111033619 pathogenic, X-linked severe combined immunodeficiency 71,110,980(-) A/T coding_sequence_variant, stop_gained
rs111033620 pathogenic, X-linked severe combined immunodeficiency, Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] 71,110,617(-) C/T coding_sequence_variant, missense_variant

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

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

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

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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 22 44 58
  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 22 58
  3. 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 58
  4. 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 22 58
  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 22 58

Products for IL2RG Gene

Sources for IL2RG Gene

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