Display Settings:

Format

Send to:

Choose Destination

    IL2RG interleukin 2 receptor, gamma [ Homo sapiens ]

    Gene ID: 3561, updated on 19-May-2012

    Summary

    Official Symbol
    IL2RGprovided by HGNC
    Official Full Name
    interleukin 2 receptor, gammaprovided by HGNC
    Primary source
    HGNC:6010
    See related
    Ensembl:ENSG00000147168; HPRD:02391; MIM:308380; Vega:OTTHUMG00000021787
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P64; CIDX; IMD4; CD132; SCIDX; IL-2RG; SCIDX1
    Summary
    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]

    Genomic context

    Location :
    Xq13.1
    Sequence :
    Chromosome: X; NC_000023.10 (70327254..70331481, complement)
    See IL2RG in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene forkhead box O4 Neighboring gene chromosome X open reading frame 65 Neighboring gene mediator complex subunit 12 Neighboring gene neuroligin 3

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Phenotypes

    Combined immunodeficiency, X-linked, moderate

    Severe combined immunodeficiency, X-linked

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    X-linked severe combined immunodeficiency (X-SCID) is a combined cellular and humoral immunodeficiency resulting from lack of T and natural killer (NK) lymphocytes and nonfunctional B lymphocytes. Most males with typical X-SCID come to medical attention between three and six months of age. Nearly universal features during the first year of life are failure to thrive, oral/diaper candidiasis, absent tonsils and lymph nodes, recurrent infections, infections with opportunistic organisms such as Pneumocystis, and persistence of infections despite conventional treatment. Additional common features include rashes, diarrhea, cough and congestion, fevers, pneumonia, sepsis, and other severe bacterial infections. Males with atypical X-SCID may have immune dysregulation and autoimmunity associated with rashes, gastrointestinal malabsorption, other autoimmune conditions, and short stature.
    Diagnosis Testing
    The diagnosis of X-SCID must be made by lymphocyte counts, lymphocyte cell surface staining and enumeration by flow cytometry, lymphocyte functional tests, and molecular genetic testing. A low absolute lymphocyte count compared to age-matched normal infants is usually observed. The number of T cells is usually very low; B cells are generally present but nonfunctional. The number of NK cells is low or absent. IL2RG is the only gene known to be associated with X-SCID. Sequence analysis of the IL2RG coding region detects a mutation in more than 99% of affected individuals. Such testing is available on a clinical basis.
    Genetic Counseling
    X-SCID is inherited in an X-linked manner. More than one half of affected males have no family history of early deaths in maternal male relatives. If the mother of a proband is a carrier, the chance of transmitting the disease-causing mutation in each pregnancy is 50%. Male sibs who inherit the mutation will be affected; female sibs who inherit the mutation will be carriers and will not be affected. Males with X-SCID will pass the disease-causing mutation to all of their daughters and none of their sons. Prenatal testing is possible for pregnancies of women who are carriers for a known IL2RG mutation.
    References

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The inhibition of IL-2R expression and proliferation induced by the interaction of CD4 with HIV-1 envelope glycoprotein gp120 is correlated with the inhibition of expression and activation of Janus kinase JAK3 PubMed
    env HIV-1 gp120 exerts a dose-dependent reduction of IL-2 mRNA expression, IL-2 production, and surface IL-2 receptor expression in CD4+ lymphocytes PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000197.1 NP_000580.1 IL4    BIND  PubMed IL-4 interacts with gamma-C. 
    NP_000197.1 NP_000871.1 IL7    BIND  PubMed IL7 interacts with IL-2R-gamma. 
    NP_000197.1     BIND  PubMed The IL4-IL4R-alpha complex interacts with gamma-C. 
    P31785 P04632 CAPNS1    HPRD  PubMed  
    P31785 P05362 ICAM1    HPRD  PubMed  
    P31785 P40933 IL15    HPRD  PubMed  
    P31785 Q13261 IL15RA    HPRD  PubMed  
    P31785 P60568 IL2    HPRD  PubMed  
    P31785 P14784 IL2RB    HPRD  PubMed  
    P31785 P05112 IL4    HPRD  PubMed  
    P31785 P24394 IL4R    HPRD  PubMed  
    P31785 P13232 IL7    HPRD  PubMed  
    P31785 P16871 IL7R    HPRD  PubMed  
    P31785 Q01113 IL9R    HPRD  PubMed  
    P31785 P23458 JAK1    HPRD  PubMed  
    P31785 P52333 JAK3    HPRD  PubMed  
    P31785 Q12913 PTPRJ    HPRD  PubMed  
    P31785 Q15464 SHB    HPRD  PubMed  
    P31785 P29353 SHC1    HPRD  PubMed  
    P31785 P42224 STAT1    HPRD  PubMed  
    P31785 P42229 STAT5A    HPRD  PubMed  
    P31785 Q9H0M0 WWP1    HPRD  PubMed  
    P31785 O00308 WWP2    HPRD  PubMed  
    BioGRID:109776 BioGRID:107276 CAPNS1    BioGRID  PubMed Two-hybrid 
    BioGRID:109776 BioGRID:109921 JAK3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109776 BioGRID:112358 SHB    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109776 BioGRID:112361 SHC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109776 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Downstream signaling in naive CD8+ T cells, organism-specific biosystem (from Pathway Interaction Database)
      Downstream signaling in naive CD8+ T cells, organism-specific biosystem
      Downstream signaling in naive CD8+ T cells
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • IL-2 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-2 Signaling Pathway, organism-specific biosystemInterleukin-2 belongs to a family of cytokines, which includes IL-4, IL-7, IL-9, IL-15 and IL-21. IL-2 signals through a receptor complex consisting of IL-2 specific IL-2 receptor alpha (CD25), IL-2 ...
    • IL-4 signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-4 signaling Pathway, organism-specific biosystemInterleukin-4 belongs to the IL-2 family of cytokines, which includes IL-2, IL-7, IL-9, IL-15 and IL-21. It signals through 2 different receptor complexes; Receptor complex 1 comprises of IL-4 recept...
    • IL-7 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-7 Signaling Pathway, organism-specific biosystemInterleukin-7 belongs to a family of cytokines, which includes IL-2, IL-4, IL-9, IL-15 and IL-21. It signals through a receptor complex consisting of IL-7 receptor alpha chain (IL7RA) and a common ga...
    • IL-9 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-9 Signaling Pathway, organism-specific biosystemInterleukin-9 belongs to a family of cytokines, which includes IL-2, IL-4, IL-7, IL-15 and IL-21. It signals through a receptor complex consisting of an IL-9 receptor (IL9R) and a common gamma chain ...
    • IL12-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL12-mediated signaling events, organism-specific biosystem
      IL12-mediated signaling events
    • IL2 signaling events mediated by PI3K, organism-specific biosystem (from Pathway Interaction Database)
      IL2 signaling events mediated by PI3K, organism-specific biosystem
      IL2 signaling events mediated by PI3K
    • IL2 signaling events mediated by STAT5, organism-specific biosystem (from Pathway Interaction Database)
      IL2 signaling events mediated by STAT5, organism-specific biosystem
      IL2 signaling events mediated by STAT5
    • IL2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL2-mediated signaling events, organism-specific biosystem
      IL2-mediated signaling events
    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Inflammatory Response Pathway, organism-specific biosystem (from WikiPathways)
      Inflammatory Response Pathway, organism-specific biosystem
      Inflammatory Response Pathway
    • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
      Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
    • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
    • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
      Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
    • Interleukin-7 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-7 signaling, organism-specific biosystemInterleukin-7 (IL7) is produced primarily by T zone fibroblastic reticular cells found in lymphoid organs, and also expressed by non-hematopoietic stromal cells present in other tissues including the...
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Measles, organism-specific biosystem (from KEGG)
      Measles, organism-specific biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
    • Measles, conserved biosystem (from KEGG)
      Measles, conserved biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
    • Primary immunodeficiency, organism-specific biosystem (from KEGG)
      Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Primary immunodeficiency, conserved biosystem (from KEGG)
      Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-2 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to interleukin-2 receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to interleukin-4 receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to interleukin-7 receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    interleukin-4-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    interspecies interaction between organisms IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    external side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    cytokine receptor common subunit gamma
    Names
    cytokine receptor common subunit gamma
    gammaC
    gamma(c)
    CD132 antigen
    common gamma-chain
    IL-2R subunit gamma
    IL-2 receptor subunit gamma
    severe combined immunodeficiency
    combined immunodeficiency, X-linked
    common cytokine receptor gamma chain
    interleukin-2 receptor subunit gamma

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009088.1 RefSeqGene

      Range
      4923..9150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_150

    mRNA and Protein(s)

    1. NM_000206.2NP_000197.1  cytokine receptor common subunit gamma precursor

      Status: REVIEWED

      Source sequence(s)
      BC014972, DC345219
      Consensus CDS
      CCDS14406.1
      UniProtKB/Swiss-Prot
      P31785
      Related
      ENSP00000363318, OTTHUMP00000023489, ENST00000374202, OTTHUMT00000057102
      Conserved Domains (2) summary
      cd00063
      Location:154246
      Blast Score: 90
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl12153
      Location:59151
      Blast Score: 141
      IL6Ra-bind; Interleukin-6 receptor alpha chain, binding

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      70327254..70331481, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      64146973..64150762, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...