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IL2RG (interleukin 2 receptor subunit gamma)

Identity

Alias_namesSCIDX1
IMD4
CIDX
severe combined immunodeficiency
combined immunodeficiency, X-linked
interleukin 2 receptor, gamma
Alias_symbol (synonym)CD132
Other aliasIL-2RG
P64
SCIDX
HGNC (Hugo) IL2RG
LocusID (NCBI) 3561
Atlas_Id 46194
Location Xq13.1  [Link to chromosome band Xq13]
Location_base_pair Starts at 71107406 and ends at 71111631 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
IL2RG (Xq13.1) / CXorf65 (Xq13.1)LOC100507412 (-) / IL2RG (Xq13.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)IL2RG   6010
LRG (Locus Reference Genomic)LRG_150
Cards
Entrez_Gene (NCBI)IL2RG  3561  interleukin 2 receptor subunit gamma
AliasesCD132; CIDX; IL-2RG; IMD4; 
P64; SCIDX; SCIDX1
GeneCards (Weizmann)IL2RG
Ensembl hg19 (Hinxton)ENSG00000147168 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147168 [Gene_View]  chrX:71107406-71111631 [Contig_View]  IL2RG [Vega]
ICGC DataPortalENSG00000147168
TCGA cBioPortalIL2RG
AceView (NCBI)IL2RG
Genatlas (Paris)IL2RG
WikiGenes3561
SOURCE (Princeton)IL2RG
Genetics Home Reference (NIH)IL2RG
Genomic and cartography
GoldenPath hg38 (UCSC)IL2RG  -     chrX:71107406-71111631 -  Xq13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IL2RG  -     Xq13.1   [Description]    (hg19-Feb_2009)
EnsemblIL2RG - Xq13.1 [CytoView hg19]  IL2RG - Xq13.1 [CytoView hg38]
Mapping of homologs : NCBIIL2RG [Mapview hg19]  IL2RG [Mapview hg38]
OMIM300400   308380   312863   
Gene and transcription
Genbank (Entrez)AB102793 AB102794 AB102795 AB102796 AB102797
RefSeq transcript (Entrez)NM_000206
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IL2RG
Cluster EST : UnigeneHs.84 [ NCBI ]
CGAP (NCI)Hs.84
Alternative Splicing GalleryENSG00000147168
Gene ExpressionIL2RG [ NCBI-GEO ]   IL2RG [ EBI - ARRAY_EXPRESS ]   IL2RG [ SEEK ]   IL2RG [ MEM ]
Gene Expression Viewer (FireBrowse)IL2RG [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3561
GTEX Portal (Tissue expression)IL2RG
Protein : pattern, domain, 3D structure
UniProt/SwissProtP31785   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP31785  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP31785
Splice isoforms : SwissVarP31785
PhosPhoSitePlusP31785
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    HEMATOPO_REC_S_F1 (PS01355)   
Domains : Interpro (EBI)FN3_dom    Hempt_rcpt_S_F1_CS    Ig-like_fold    TypeI_recpt_CBD   
Domain families : Pfam (Sanger)IL6Ra-bind (PF09240)   
Domain families : Pfam (NCBI)pfam09240   
Conserved Domain (NCBI)IL2RG
DMDM Disease mutations3561
Blocks (Seattle)IL2RG
PDB (SRS)1ILL    1ILM    1ILN    1ITE    2B5I    2ERJ    3BPL    3QAZ    3QB7    4GS7   
PDB (PDBSum)1ILL    1ILM    1ILN    1ITE    2B5I    2ERJ    3BPL    3QAZ    3QB7    4GS7   
PDB (IMB)1ILL    1ILM    1ILN    1ITE    2B5I    2ERJ    3BPL    3QAZ    3QB7    4GS7   
PDB (RSDB)1ILL    1ILM    1ILN    1ITE    2B5I    2ERJ    3BPL    3QAZ    3QB7    4GS7   
Structural Biology KnowledgeBase1ILL    1ILM    1ILN    1ITE    2B5I    2ERJ    3BPL    3QAZ    3QB7    4GS7   
SCOP (Structural Classification of Proteins)1ILL    1ILM    1ILN    1ITE    2B5I    2ERJ    3BPL    3QAZ    3QB7    4GS7   
CATH (Classification of proteins structures)1ILL    1ILM    1ILN    1ITE    2B5I    2ERJ    3BPL    3QAZ    3QB7    4GS7   
SuperfamilyP31785
Human Protein AtlasENSG00000147168
Peptide AtlasP31785
HPRD02391
IPIIPI00012899   IPI00942596   IPI00554601   IPI00795907   IPI01012267   IPI00966344   IPI00965723   IPI00966027   IPI00967166   
Protein Interaction databases
DIP (DOE-UCLA)P31785
IntAct (EBI)P31785
FunCoupENSG00000147168
BioGRIDIL2RG
STRING (EMBL)IL2RG
ZODIACIL2RG
Ontologies - Pathways
QuickGOP31785
Ontology : AmiGOMAPK cascade  interleukin-2 receptor activity  interleukin-4 receptor activity  interleukin-7 receptor activity  Ras guanyl-nucleotide exchange factor activity  protein binding  intracellular  plasma membrane  integral component of plasma membrane  immune response  signal transduction  external side of plasma membrane  membrane  viral process  interleukin-2 binding  interleukin-4-mediated signaling pathway  interleukin-2-mediated signaling pathway  interleukin-7-mediated signaling pathway  positive regulation of GTPase activity  
Ontology : EGO-EBIMAPK cascade  interleukin-2 receptor activity  interleukin-4 receptor activity  interleukin-7 receptor activity  Ras guanyl-nucleotide exchange factor activity  protein binding  intracellular  plasma membrane  integral component of plasma membrane  immune response  signal transduction  external side of plasma membrane  membrane  viral process  interleukin-2 binding  interleukin-4-mediated signaling pathway  interleukin-2-mediated signaling pathway  interleukin-7-mediated signaling pathway  positive regulation of GTPase activity  
Pathways : BIOCARTAIL 2 signaling pathway [Genes]    IL-2 Receptor Beta Chain in T cell Activation [Genes]    IL 4 signaling pathway [Genes]   
Pathways : KEGG   
NDEx NetworkIL2RG
Atlas of Cancer Signalling NetworkIL2RG
Wikipedia pathwaysIL2RG
Orthology - Evolution
OrthoDB3561
GeneTree (enSembl)ENSG00000147168
Phylogenetic Trees/Animal Genes : TreeFamIL2RG
HOVERGENP31785
HOGENOMP31785
Homologs : HomoloGeneIL2RG
Homology/Alignments : Family Browser (UCSC)IL2RG
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIL2RG [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IL2RG
dbVarIL2RG
ClinVarIL2RG
1000_GenomesIL2RG 
Exome Variant ServerIL2RG
ExAC (Exome Aggregation Consortium)IL2RG (select the gene name)
Genetic variants : HAPMAP3561
Genomic Variants (DGV)IL2RG [DGVbeta]
DECIPHERIL2RG [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIL2RG 
Mutations
ICGC Data PortalIL2RG 
TCGA Data PortalIL2RG 
Broad Tumor PortalIL2RG
OASIS PortalIL2RG [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIL2RG  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIL2RG
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)LOVD at NCBI
BioMutasearch IL2RG
DgiDB (Drug Gene Interaction Database)IL2RG
DoCM (Curated mutations)IL2RG (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IL2RG (select a term)
intoGenIL2RG
Cancer3DIL2RG(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300400    308380    312863   
Orphanet170    10452   
MedgenIL2RG
Genetic Testing Registry IL2RG
NextProtP31785 [Medical]
TSGene3561
GENETestsIL2RG
Huge Navigator IL2RG [HugePedia]
snp3D : Map Gene to Disease3561
BioCentury BCIQIL2RG
ClinGenIL2RG
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3561
Chemical/Pharm GKB GenePA196
Clinical trialIL2RG
Miscellaneous
canSAR (ICR)IL2RG (select the gene name)
Probes
Litterature
PubMed113 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIL2RG
EVEXIL2RG
GoPubMedIL2RG
iHOPIL2RG
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:20:23 CEST 2017

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