Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CSF2RA (colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage))

Identity

Other namesCD116
CDw116
CSF2R
CSF2RAX
CSF2RAY
CSF2RX
CSF2RY
GM-CSF-R-alpha
GMCSFR
GMR
SMDP4
HGNC (Hugo) CSF2RA
LocusID (NCBI) 1438
Location Xp22.33
Location_base_pair Starts at 1387693 and ends at 1428828 bp from pter ( according to hg19-Feb_2009)
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)CSF2RA   2435
Cards
Entrez_Gene (NCBI)CSF2RA  1438  colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
GeneCards (Weizmann)CSF2RA
Ensembl hg19 (Hinxton)ENSG00000198223 [Gene_View]  chrX:1387693-1428828 [Contig_View]  CSF2RA [Vega]
Ensembl hg38 (Hinxton)ENSG00000198223 [Gene_View]  chrX:1387693-1428828 [Contig_View]  CSF2RA [Vega]
ICGC DataPortalENSG00000198223
cBioPortalCSF2RA
AceView (NCBI)CSF2RA
Genatlas (Paris)CSF2RA
WikiGenes1438
SOURCE (Princeton)CSF2RA
Genomic and cartography
GoldenPath hg19 (UCSC)CSF2RA  -     chrX:1387693-1428828 +  Xp22.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CSF2RA  -     Xp22.33   [Description]    (hg38-Dec_2013)
EnsemblCSF2RA - Xp22.33 [CytoView hg19]  CSF2RA - Xp22.33 [CytoView hg38]
Mapping of homologs : NCBICSF2RA [Mapview hg19]  CSF2RA [Mapview hg38]
OMIM306250   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)NC_000023 NC_000024 NC_018934 NG_012280 NT_167201 NT_187358 NW_001841157 NW_004929437
Consensus coding sequences : CCDS (NCBI)CSF2RA
Cluster EST : UnigeneHs.520937 [ NCBI ]
CGAP (NCI)Hs.520937
Alternative Splicing : Fast-db (Paris)GSHG0032973
Alternative Splicing GalleryENSG00000198223
Gene ExpressionCSF2RA [ NCBI-GEO ]     CSF2RA [ SEEK ]   CSF2RA [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15509 (Uniprot)
NextProtP15509  [Medical]
With graphics : InterProP15509
Splice isoforms : SwissVarP15509 (Swissvar)
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    HEMATOPO_REC_S_F2 (PS01356)   
Domains : Interpro (EBI)Fibronectin_type3    Ig-like_fold    IL-6_rcpt_alpha-bd    Short_hematopoietin_rcpt_2_CS   
Related proteins : CluSTrP15509
Domain families : Pfam (Sanger)IL6Ra-bind (PF09240)   
Domain families : Pfam (NCBI)pfam09240   
Domain families : Smart (EMBL)FN3 (SM00060)  
DMDM Disease mutations1438
Blocks (Seattle)P15509
PDB (SRS)3CXE   
PDB (PDBSum)3CXE   
PDB (IMB)3CXE   
PDB (RSDB)3CXE   
Human Protein AtlasENSG00000198223
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
IntegromeDBCSF2RA
STRING (EMBL)CSF2RA
Ontologies - Pathways
QuickGOP15509
Ontology : AmiGOreceptor activity  cytokine receptor activity  extracellular region  plasma membrane  integral component of plasma membrane  cytokine-mediated signaling pathway  
Ontology : EGO-EBIreceptor activity  cytokine receptor activity  extracellular region  plasma membrane  integral component of plasma membrane  cytokine-mediated signaling pathway  
Pathways : KEGGCytokine-cytokine receptor interaction    Jak-STAT signaling pathway    Hematopoietic cell lineage    Pathways in cancer   
Protein Interaction DatabaseCSF2RA
DoCM (Curated mutations)CSF2RA
Wikipedia pathwaysCSF2RA
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCSF2RA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSF2RA
dbVarCSF2RA
ClinVarCSF2RA
1000_GenomesCSF2RA 
Exome Variant ServerCSF2RA
SNP (GeneSNP Utah)CSF2RA
SNP : HGBaseCSF2RA
Genetic variants : HAPMAPCSF2RA
Genomic VariantsCSF2RA  CSF2RA [DGVbeta]
Mutations
ICGC Data PortalENSG00000198223 
Somatic Mutations in Cancer : COSMICCSF2RA 
CONAN: Copy Number AnalysisCSF2RA 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:1387693-1428828
Mutations and Diseases : HGMDCSF2RA
OMIM306250    425000   
MedgenCSF2RA
NextProtP15509 [Medical]
GENETestsCSF2RA
Disease Genetic AssociationCSF2RA
Huge Navigator CSF2RA [HugePedia]  CSF2RA [HugeCancerGEM]
snp3D : Map Gene to Disease1438
DGIdb (Drug Gene Interaction db)CSF2RA
General knowledge
Homologs : HomoloGeneCSF2RA
Homology/Alignments : Family Browser (UCSC)CSF2RA
Phylogenetic Trees/Animal Genes : TreeFamCSF2RA
Chemical/Protein Interactions : CTD1438
Chemical/Pharm GKB GenePA26938
Clinical trialCSF2RA
Cancer Resource (Charite)ENSG00000198223
Other databases
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
CoreMineCSF2RA
GoPubMedCSF2RA
iHOPCSF2RA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:00:32 CET 2014
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