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IL2RG Gene

protein-coding   GIFtS: 68
GCID: GC0XM070327

Interleukin 2 Receptor, Gamma

(Previous names: severe combined immunodeficiency, combined immunodeficiency,...)
(Previous symbols: SCIDX1, IMD4, CIDX)
  See IL2RG-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Interleukin 2 Receptor, Gamma1 2     SCIDX2 5
IMD41 2 5     Combined Immunodeficiency, X-Linked1
SCIDX11 2 5     Severe Combined Immunodeficiency1
CIDX1 2     CD1322
IL-2RG2 3     P642
CD132 Antigen2 3     Common Cytokine Receptor Gamma Chain2
gammaC2 3     Cytokine Receptor Common Subunit Gamma2
IL-2 Receptor Subunit Gamma2 3     Interleukin-2 Receptor Subunit Gamma3
IL-2R Subunit Gamma2 3     p643

External Ids:    HGNC: 60101   Entrez Gene: 35612   Ensembl: ENSG000001471687   OMIM: 3083805   UniProtKB: P317853   

Export aliases for IL2RG gene to outside databases

Previous GC identifers: GC0XM066501 GC0XM067804 GC0XM068559 GC0XM069194 GC0XM070110 GC0XM070244 GC0XM070246 GC0XM064146


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 gamma chain deficiency, and severe combined immunodeficiency. GO annotations related to this gene include interleukin-2 receptor activity and interleukin-4 receptor activity.

UniProtKB/Swiss-Prot: IL2RG_HUMAN, P31785
Function: Common subunit for the receptors for a variety of interleukins

Gene Wiki entry for IL2RG (Common gamma chain) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011651.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the IL2RG gene promoter:
         GR   RP58   GR-beta   p300   Nkx2-5   Evi-1   COMP1   HOXA5   IRF-7A   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIL2RG promoter sequence
   Search Chromatin IP Primers for IL2RG

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IL2RG


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq13.1   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13

IL2RG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL2RG gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM070327:  view genomic region     (about GC identifiers)

Start:
70,327,254 bp from pter      End:
70,331,958 bp from pter
Size:
4,705 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IL2RG_HUMAN, P31785 (See protein sequence)
Recommended Name: Cytokine receptor common subunit gamma precursor  
Size: 369 amino acids; 42287 Da
Subunit: 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
Selected PDB 3D structures from and Proteopedia for IL2RG (see all 10):
1ILL (3D)        1ILM (3D)        1ILN (3D)        1ITE (3D)        2B5I (3D)        2ERJ (3D)    
Secondary accessions: Q5FC12
Alternative splicing: 2 isoforms:  P31785-1   P31785-2   

Explore the universe of human proteins at neXtProt for IL2RG: NX_P31785

Explore proteomics data for IL2RG at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys164, Lys207, Lys217, Lys294, Lys315
  • Glycosylation2 at Asn24, Asn71, Asn75, Asn84, Asn159, Asn249
  • Modification sites at PhosphoSitePlus

  • See IL2RG Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000197.1  
    ENSEMBL proteins: 
     ENSP00000363318   ENSP00000421262   ENSP00000425233   ENSP00000423966   ENSP00000423601  
     ENSP00000388967   ENSP00000363303  
    Reactome Protein details: P31785

    IL2RG Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for IL2RG
    Sino Biological Cell Lysate for IL2RG
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    Search eBioscience for ELISAs for IL2RG 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    CD: CD molecules
    IL: Interleukins and interleukin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Interleukin-2 receptor gamma subunit
    IL-2 receptor family

    4 InterPro protein domains:
     IPR015321 IL-6_rcpt_alpha-bd
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR003531 Hempt_rcpt_S_F1_CS

    Graphical View of Domain Structure for InterPro Entry P31785

    ProtoNet protein and cluster: P31785

    1 Blocks protein domain: IPB003531 Short hematopoietin receptor

    UniProtKB/Swiss-Prot: IL2RG_HUMAN, P31785
    Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular
    transport and cell-surface receptor binding
    Domain: The box 1 motif is required for JAK interaction and/or activation
    Similarity: Belongs to the type I cytokine receptor family. Type 5 subfamily
    Similarity: Contains 1 fibronectin type-III domain


    Find genes that share domains with IL2RG           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IL2RG_HUMAN, P31785
    Function: Common subunit for the receptors for a variety of interleukins

         Genatlas biochemistry entry for IL2RG:
    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)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004896cytokine receptor activity ----
    GO:0004911contributes to interleukin-2 receptor activity TAS8266076
    GO:0004913contributes to interleukin-4 receptor activity TAS8266078
    GO:0004917contributes to interleukin-7 receptor activity TAS8266077
    GO:0005515protein binding IPI12504082
         
    Find genes that share ontologies with IL2RG           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for IL2RG:
     Synthetic lethal with Ras 

         14 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Il2rg):
     cellular  craniofacial  digestive/alimentary  embryogenesis  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  no phenotypic analysis  normal 
     reproductive system  respiratory system  skeleton  tumorigenesis 

    Find genes that share phenotypes with IL2RG           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for IL2RG: Il2rgtm1Wjl Il2rgtm1Sug Il2rgtm1Krf Il2rgtm1.1Flv Il2rgtm1Cgn

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IL2RG
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    hsa-miR-873 hsa-miR-1321 hsa-miR-513c hsa-miR-514b-5p hsa-miR-421
    SwitchGear 3'UTR luciferase reporter plasmidIL2RG 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Sino Biological Human cDNA Clone for IL2RG
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IL2RG

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL2RG


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IL2RG_HUMAN, P31785: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular3
    cytosol1
    lysosome1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8514792
    GO:0009897external side of plasma membrane ISS--
    GO:0009986cell surface ----
    GO:0016020membrane ----

    Find genes that share ontologies with IL2RG           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IL2RG About   (see all 33)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1IL-9 Signaling Pathways
    IL-9 Signaling Pathways0.90
    IL-15 Signaling Pathways0.88
    IL-7 Signaling Pathways0.90
    IL-4 Signaling Pathways0.84
    IL-21 Signaling Pathways0.90
    IL-9 Signaling Pathway0.42
    Common Cytokine Receptor Gamma-Chain Family Signaling Pathways0.90
    Immune response IL 9 signaling pathway0.42
    2PEDF Induced Signaling
    NFAT Signaling and Lymphocyte Interactions0.57
    Glucocorticoid Receptor Signaling0.43
    PGC1Alpha Pathway0.51
    Cytokine-cytokine receptor interaction0.43
    STAT3 Pathway0.47
    3IL2-mediated signaling events
    IL-2 Signaling pathway0.49
    IL2-mediated signaling events0.49
    4Signaling by Interleukins
    Interleukin receptor SHC signaling0.67
    Signaling by Interleukins0.42
    Interleukin-2 signaling0.67
    Interleukin-7 signaling0.00
    Interleukin-3, 5 and GM-CSF signaling0.59
    5TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51


    Find genes that share SuperPaths with IL2RG           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected R&D Systems Pathways for IL2RG (see all 14)
        IL-21 Signaling Pathways
    IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-2 Signaling Pathways
    IL-4 Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for IL2RG (see all 15)
        STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Glucocorticoid Receptor Signaling
    ICos-ICosL Pathway in T-Helper Cell

    5 GeneGo (Thomson Reuters) Pathways for IL2RG
        Immune response IL-4 signaling pathway
    Immune response IL-22 signaling pathway
    Immune response IL-9 signaling pathway
    Cytokine production by Th17 cells in CF (Mouse model)
    Immune response IL-2 activation and signaling pathway

    Selected BioSystems Pathways for IL2RG (see all 11)
        IL-4 signaling Pathway
    IL-7 Signaling Pathway
    IL-9 Signaling Pathway
    IL-2 Signaling pathway
    IL4-mediated signaling events


    3 Reactome Pathways for IL2RG
        Interleukin-7 signaling
    Interleukin receptor SHC signaling
    Interleukin-2 signaling


    Selected Kegg Pathways  (Kegg details for IL2RG) (see all 8):
        Cytokine-cytokine receptor interaction
    Endocytosis
    PI3K-Akt signaling pathway
    Jak-STAT signaling pathway
    Measles

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL2RG: 
              Interferons & Receptors in human mouse rat
              Inflammatory Cytokines & Receptors in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IL2RG

    Selected Interacting proteins for IL2RG (P317851, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL7P132321, 3EBI-80475,EBI-80516 I2D: score=5 
    JAK3P523333I2D: score=5 
    IL4P051123I2D: score=4 
    IL4RP243943I2D: score=4 
    IL2P605683I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response TAS8266078
    GO:0007165signal transduction NAS8266076
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0035771interleukin-4-mediated signaling pathway TAS8266078

    Find genes that share ontologies with IL2RG           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IL2RG

    2 DrugBank Compounds for IL2RG    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AldesleukinIL-2 (see all 4)85898-30-2targetagonist17083048 16477002 17363735 17598841 17635814
    Denileukin diftitoxDiphtheria toxin precursor (see all 3)173146-27-5target--16516670 15811959 11707860

    3 Novoseek inferred chemical compound relationships for IL2RG gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 19.7 1 8631883 (1)
    gnrh 0 3 10022447 (1)
    cyclosporin a 0 1 11159533 (1)



    Find genes that share compounds with IL2RG           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IL2RG gene: 
    NM_000206.2  

    Unigene Cluster for IL2RG:

    Interleukin 2 receptor, gamma
    Hs.84  [show with all ESTs]
    Unigene Representative Sequence: BM563937
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000276110 ENST00000374202(uc004dyv.2 uc004dyw.2 uc004dyx.2)
    ENST00000512747 ENST00000482750 ENST00000464642 ENST00000487883 ENST00000473378
    ENST00000456850 ENST00000374188
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidIL2RG 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: IL2RG (NM_000206)
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      QuantiTect SYBR Green Assays in human, mouse, rat IL2RG
      QuantiFast Probe-based Assays in human, mouse, rat IL2RG

    Additional mRNA sequence: 

    AB102793.1 AB102794.1 AB102795.1 AB102796.1 AB102797.1 AK314932.1 BC014972.1 D11086.1 

    9 DOTS entries:

    DT.453184  DT.99951717  DT.100813849  DT.95362573  DT.92430250  DT.92430248  DT.92430249  DT.95087461 
    DT.95376028 

    Selected AceView cDNA sequences (see all 159):

    AW406187 CR599537 BP340413 AA360963 BU630174 NM_000206 CR617630 D11086 
    BP367721 CD368264 AI572004 BX106235 AA312473 BI766284 BQ052199 BI821085 
    BM991312 AW886672 AA311429 BC014972 CR624448 CR591866 AA357217 AL548162 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for IL2RG    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
    SP1:                          -                                                         
    SP2:                                                                                    
    SP3:        -                 -                                                         
    SP4:                                                              -                     


    ECgene alternative splicing isoforms for IL2RG

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IL2RG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTCTTCT
    IL2RG Expression
    About this image


    IL2RG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Adipose (Muscoskeletal System)
             Body Subcutaneous White Adipose
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             S-shaped Body
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
    IL2RG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IL2RG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.84
        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL2RG: 
              Interferons & Receptors in human mouse rat
              Inflammatory Cytokines & Receptors in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for IL2RG
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for IL2RG gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Il2rg1 , 5 interleukin 2 receptor, gamma chain1, 5 80.94(n)1
    71.84(a)1
      X (43.90 cM)5
    161861  NM_013563.31  NP_038591.11 
     1012643785 
    chicken
    (Gallus gallus)
    Aves IL2RG1 interleukin 2 receptor, gamma (severe combined immunodeficiency) 56.12(n)
    43.2(a)
      395199  NM_204527.1  NP_989858.1 
    lizard
    (Anolis carolinensis)
    Reptilia IL2RG6
    interleukin 2 receptor, gamma
    34(a)
    1 ↔ 1
    GL343599.1(344613-357716)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004929951 cytokine receptor common subunit gamma-like 50.43(n)
    38.29(a)
      100492995  XM_002934886.2  XP_002934932.1 
    zebrafish
    (Danio rerio)
    Actinopterygii il2rgb1 interleukin 2 receptor, gamma b 46.81(n)
    32.35(a)
      100144554  NM_001123050.1  NP_001116522.1 


    ENSEMBL Gene Tree for IL2RG (if available)
    TreeFam Gene Tree for IL2RG (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IL2RG (see all 182)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0026784
    Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)4--see VAR_0026782 H P mis40--------
    VAR_0026694
    Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)4--see VAR_0026692 C G mis40--------
    VAR_0026944
    Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)4--see VAR_0026942 C Y mis40--------
    VAR_0026774
    Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)4--see VAR_0026772 C R mis40--------
    VAR_0026994
    Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)4--see VAR_0026992 M R mis40--------
    VAR_0026884
    X-linked combined immunodeficiency (XCID)4--see VAR_0026882 R C mis40--------
    VAR_0026684
    Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)4--see VAR_0026682 D N mis40--------
    VAR_0026844
    Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)4--see VAR_0026842 L P mis40--------
    VAR_0026704
    Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)4--see VAR_0026702 E G mis40--------
    VAR_0026924
    Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)4--see VAR_0026922 F C mis40--------

    HapMap Linkage Disequilibrium report for IL2RG (70327254 - 70331958 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for IL2RG:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33082CNV Loss17666407
    esv1584074OTHER Inversion17803354

    Human Gene Mutation Database (HGMD): IL2RG
    Locus Specific Mutation Databases (LSDB): IL2RG

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 308380   
    OMIM disorders: 300400  312863  
    UniProtKB/Swiss-Prot: IL2RG_HUMAN, P31785
  • 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. 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for IL2RG:    
    About MalaCards
    gamma chain deficiency    severe combined immunodeficiency    combined immunodeficiency, x-linked, moderate    lymphopenia
    pre-b-cell acute lymphoblastic leukemia    amyotrophic lateral sclerosis 20    omenn syndrome

    1 disease from the University of Copenhagen DISEASES database for IL2RG:
    Severe combined immunodeficiency

    Find genes that share disorders with IL2RG           About GenesLikeMe

    10 Novoseek inferred disease relationships for IL2RG gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    severe combined immunodeficiency, x-linked 97.9 93 8401490 (5), 10794430 (4), 9049783 (2), 7668284 (2) (see all 44)
    severe combined immunodeficiency 80.4 15 8401490 (1), 7937790 (1), 14726805 (1), 11339359 (1) (see all 14)
    t-all 54.5 3 11553853 (1), 16988660 (1)
    lymphopenia 49.2 2 18728247 (1), 15702055 (1)
    leukemia 36.2 5 19440365 (1), 19461887 (1), 19337236 (1), 15958711 (1) (see all 5)
    immunodeficiency 33.9 5 19659776 (1), 20060740 (1), 15958711 (1), 15681411 (1) (see all 5)
    hiv infections 5.39 1 9831196 (1)
    necrosis 0 1 10899912 (1)
    tumors 0 2 19440365 (1), 19461887 (1)
    melanoma 0 1 8344747 (1)

    GeneTests: IL2RG
    GeneReviews: IL2RG
    Genetic Association Database (GAD): IL2RG
    Human Genome Epidemiology (HuGE) Navigator: IL2RG (7 documents)

    Export disorders for IL2RG gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IL2RG gene, integrated from 10 sources (see all 257):
    (articles sorted by number of sources associating them with IL2RG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of the IL-2 signaling complex: paradigm for a heterotrimeric cytokine receptor. (PubMed id 16477002)1, 2, 7 Stauber D.J.... Wilson I.A. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    2. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. (PubMed id 7883965)1, 2, 3 Schmalstieg F.C.... Goldman A.S. (J. Clin. Invest. 1995)
    3. Cloning of the gamma chain of the human IL-2 receptor. (PubMed id 1631559)1, 2, 3 Takeshita T.... Sugamura K. (Science 1992)
    4. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. (PubMed id 8401490)1, 2, 9 Puck J.M.... Henthorn P.S. (Hum. Mol. Genet. 1993)
    5. Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. (PubMed id 7668284)1, 2, 9 Pepper A.E.... Puck J.M. (Am. J. Hum. Genet. 1995)
    6. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. (PubMed id 14726805)1, 4, 9 Kalman L....Buckley R. (Genet. Med. 2004)
    7. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. (PubMed id 7860773)1, 2, 9 Puck J.M.... Laframboise R. (J. Clin. Invest. 1995)
    8. Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. (PubMed id 8266077)1, 2, 9 Noguchi M....Leonard W.J. (Science 1993)
    9. Limiting {gamma}c expression differentially affects signaling via the interleukin (IL)-7 and IL-15 receptors. (PubMed id 17363735)1, 7, 9 Smyth C.M....Alexander I.E. (Blood 2007)
    10. Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. (PubMed id 11426455)1, 4, 9 Fanos J.H....Puck J.M. (Am. J. Med. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3561 HGNC: 6010 AceView: IL2RG Ensembl:ENSG00000147168 euGenes: HUgn3561
    ECgene: IL2RG Kegg: 3561 H-InvDB: IL2RG

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IL2RG Pharmacogenomics, SNPs, Pathways
    IL2RGbasehttp://research.nhgri.nih.gov/scid/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IL2RG[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/il2rg/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IL2RG gene:
    Search GeneIP for patents involving IL2RG

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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