Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CSF2RA (colony stimulating factor 2 receptor alpha subunit)

Identity

Alias_namesCSF2R
colony stimulating factor 2 receptor
Alias_symbol (synonym)CD116
Other aliasCDw116
CSF2RAX
CSF2RAY
CSF2RX
CSF2RY
GM-CSF-R-alpha
GMCSFR
GMR
SMDP4
alphaGMR
HGNC (Hugo) CSF2RA
LocusID (NCBI) 1438
Atlas_Id 40162
Location Xp22.33  [Link to chromosome band Xp22]
Location_base_pair Starts at 1268800 and ends at 1309935 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CSF2RA (Xp22.33) / CRLF2 (Xp22.33)CSF2RA (Xp22.33) / IL3RA (Xp22.33)

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(X)(p22p22) CSF2RA/CRLF2

External links

Nomenclature
HGNC (Hugo)CSF2RA   2435
LRG (Locus Reference Genomic)LRG_186
Cards
Entrez_Gene (NCBI)CSF2RA  1438  colony stimulating factor 2 receptor alpha subunit
AliasesCD116; CDw116; CSF2R; CSF2RAX; 
CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR; GMR; SMDP4; alphaGMR
GeneCards (Weizmann)CSF2RA
Ensembl hg19 (Hinxton)ENSG00000198223 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198223 [Gene_View]  ENSG00000198223 [Sequence]  chrX:1268800-1309935 [Contig_View]  CSF2RA [Vega]
ICGC DataPortalENSG00000198223
TCGA cBioPortalCSF2RA
AceView (NCBI)CSF2RA
Genatlas (Paris)CSF2RA
WikiGenes1438
SOURCE (Princeton)CSF2RA
Genetics Home Reference (NIH)CSF2RA
Genomic and cartography
GoldenPath hg38 (UCSC)CSF2RA  -     chrX:1268800-1309935 +  Xp22.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CSF2RA  -     Xp22.33   [Description]    (hg19-Feb_2009)
EnsemblCSF2RA - Xp22.33 [CytoView hg19]  CSF2RA - Xp22.33 [CytoView hg38]
Mapping of homologs : NCBICSF2RA [Mapview hg19]  CSF2RA [Mapview hg38]
OMIM300770   306250   425000   
Gene and transcription
Genbank (Entrez)AK293086 AK301395 AK309630 AL833597 BC002635
RefSeq transcript (Entrez)NM_001161529 NM_001161530 NM_001161531 NM_001161532 NM_006140 NM_172245 NM_172246 NM_172247 NM_172248 NM_172249
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CSF2RA
Cluster EST : UnigeneHs.520937 [ NCBI ]
CGAP (NCI)Hs.520937
Alternative Splicing GalleryENSG00000198223
Gene ExpressionCSF2RA [ NCBI-GEO ]   CSF2RA [ EBI - ARRAY_EXPRESS ]   CSF2RA [ SEEK ]   CSF2RA [ MEM ]
Gene Expression Viewer (FireBrowse)CSF2RA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1438
GTEX Portal (Tissue expression)CSF2RA
Human Protein AtlasENSG00000198223-CSF2RA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15509   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15509  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15509
Splice isoforms : SwissVarP15509
PhosPhoSitePlusP15509
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    HEMATOPO_REC_S_F2 (PS01356)   
Domains : Interpro (EBI)FN3_dom    FN3_sf    Ig-like_fold    Short_hematopoietin_rcpt_2_CS    TypeI_recpt_CBD   
Domain families : Pfam (Sanger)IL6Ra-bind (PF09240)   
Domain families : Pfam (NCBI)pfam09240   
Conserved Domain (NCBI)CSF2RA
DMDM Disease mutations1438
Blocks (Seattle)CSF2RA
PDB (RSDB)4NKQ    4RS1   
PDB Europe4NKQ    4RS1   
PDB (PDBSum)4NKQ    4RS1   
PDB (IMB)4NKQ    4RS1   
Structural Biology KnowledgeBase4NKQ    4RS1   
SCOP (Structural Classification of Proteins)4NKQ    4RS1   
CATH (Classification of proteins structures)4NKQ    4RS1   
SuperfamilyP15509
Human Protein Atlas [tissue]ENSG00000198223-CSF2RA [tissue]
Peptide AtlasP15509
HPRD02381
IPIIPI00012009   IPI00219208   IPI00172409   IPI00219210   IPI00219211   IPI00219212   IPI00855945   IPI00930220   IPI00977657   IPI00640876   
Protein Interaction databases
DIP (DOE-UCLA)P15509
IntAct (EBI)P15509
FunCoupENSG00000198223
BioGRIDCSF2RA
STRING (EMBL)CSF2RA
ZODIACCSF2RA
Ontologies - Pathways
QuickGOP15509
Ontology : AmiGOMAPK cascade  protein tyrosine kinase activity  cytokine receptor activity  Ras guanyl-nucleotide exchange factor activity  protein binding  extracellular region  plasma membrane  integral component of plasma membrane  external side of plasma membrane  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  cytokine binding  signaling receptor activity  receptor complex  cellular protein metabolic process  
Ontology : EGO-EBIMAPK cascade  protein tyrosine kinase activity  cytokine receptor activity  Ras guanyl-nucleotide exchange factor activity  protein binding  extracellular region  plasma membrane  integral component of plasma membrane  external side of plasma membrane  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  cytokine binding  signaling receptor activity  receptor complex  cellular protein metabolic process  
Pathways : KEGGCytokine-cytokine receptor interaction    Jak-STAT signaling pathway    Hematopoietic cell lineage    Pathways in cancer   
NDEx NetworkCSF2RA
Atlas of Cancer Signalling NetworkCSF2RA
Wikipedia pathwaysCSF2RA
Orthology - Evolution
OrthoDB1438
GeneTree (enSembl)ENSG00000198223
Phylogenetic Trees/Animal Genes : TreeFamCSF2RA
HOGENOMP15509
Homologs : HomoloGeneCSF2RA
Homology/Alignments : Family Browser (UCSC)CSF2RA
Gene fusions - Rearrangements
Fusion : MitelmanCSF2RA/CRLF2 [Xp22.33/Xp22.33]  
Fusion : QuiverCSF2RA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSF2RA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSF2RA
dbVarCSF2RA
ClinVarCSF2RA
1000_GenomesCSF2RA 
Exome Variant ServerCSF2RA
ExAC (Exome Aggregation Consortium)ENSG00000198223
GNOMAD BrowserENSG00000198223
Varsome BrowserCSF2RA
Genetic variants : HAPMAP1438
Genomic Variants (DGV)CSF2RA [DGVbeta]
DECIPHERCSF2RA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCSF2RA 
Mutations
ICGC Data PortalCSF2RA 
TCGA Data PortalCSF2RA 
Broad Tumor PortalCSF2RA
OASIS PortalCSF2RA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCSF2RA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCSF2RA
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
BioMutasearch CSF2RA
DgiDB (Drug Gene Interaction Database)CSF2RA
DoCM (Curated mutations)CSF2RA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSF2RA (select a term)
intoGenCSF2RA
Cancer3DCSF2RA(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300770    306250    425000   
Orphanet20108   
DisGeNETCSF2RA
MedgenCSF2RA
Genetic Testing Registry CSF2RA
NextProtP15509 [Medical]
TSGene1438
GENETestsCSF2RA
Target ValidationCSF2RA
Huge Navigator CSF2RA [HugePedia]
snp3D : Map Gene to Disease1438
BioCentury BCIQCSF2RA
ClinGenCSF2RA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1438
Chemical/Pharm GKB GenePA26938
Clinical trialCSF2RA
Miscellaneous
canSAR (ICR)CSF2RA (select the gene name)
DataMed IndexCSF2RA
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCSF2RA
EVEXCSF2RA
GoPubMedCSF2RA
iHOPCSF2RA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 17 18:08:02 CET 2019
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