Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EPO (erythropoietin)

Identity

Other namesEP
MVCD2
HGNC (Hugo) EPO
LocusID (NCBI) 2056
Location 7q22.1
Location_base_pair Starts at 100318423 and ends at 100321323 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

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias t0817q24q22ID1494 t1119q23p13ID1540 t614p25q32IRF4IGHID1175 t1213p13q14ID1323 t1117q23q12AF17ID1027

External links

Nomenclature
HGNC (Hugo)EPO   3415
Cards
Entrez_Gene (NCBI)EPO  2056  erythropoietin
GeneCards (Weizmann)EPO
Ensembl (Hinxton)ENSG00000130427 [Gene_View]  chr7:100318423-100321323 [Contig_View]  EPO [Vega]
ICGC DataPortalENSG00000130427
cBioPortalEPO
AceView (NCBI)EPO
Genatlas (Paris)EPO
WikiGenes2056
SOURCE (Princeton)NM_000799
Genomic and cartography
GoldenPath (UCSC)EPO  -  7q22.1   chr7:100318423-100321323 +  7q22.1   [Description]    (hg19-Feb_2009)
EnsemblEPO - 7q22.1 [CytoView]
Mapping of homologs : NCBIEPO [Mapview]
OMIM133170   612623   
Gene and transcription
Genbank (Entrez)BC093628 BC111937 BC143225 JN849371 S65458
RefSeq transcript (Entrez)NM_000799
RefSeq genomic (Entrez)AC_000068 AC_000139 NC_000007 NC_018918 NG_021471 NT_007933 NT_079595 NW_001839065 NW_004929332
Consensus coding sequences : CCDS (NCBI)EPO
Cluster EST : UnigeneHs.2303 [ NCBI ]
CGAP (NCI)Hs.2303
Alternative Splicing : Fast-db (Paris)GSHG0027586
Alternative Splicing GalleryENSG00000130427
Gene ExpressionEPO [ NCBI-GEO ]     EPO [ SEEK ]   EPO [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01588 (Uniprot)
NextProtP01588  [Medical]
With graphics : InterProP01588
Splice isoforms : SwissVarP01588 (Swissvar)
Domaine pattern : Prosite (Expaxy)EPO_TPO (PS00817)   
Domains : Interpro (EBI)4_helix_cytokine-like_core [organisation]   4_helix_cytokine_core [organisation]   EPO/TPO_CS [organisation]   EPO_TPO [organisation]   Erythroptn [organisation]  
Related proteins : CluSTrP01588
Domain families : Pfam (Sanger)EPO_TPO (PF00758)   
Domain families : Pfam (NCBI)pfam00758   
DMDM Disease mutations2056
Blocks (Seattle)P01588
PDB (SRS)1BUY    1CN4    1EER   
PDB (PDBSum)1BUY    1CN4    1EER   
PDB (IMB)1BUY    1CN4    1EER   
PDB (RSDB)1BUY    1CN4    1EER   
Human Protein AtlasENSG00000130427 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP01588
HPRD00586
IPIIPI00307226   
Protein Interaction databases
DIP (DOE-UCLA)P01588
IntAct (EBI)P01588
FunCoupENSG00000130427
BioGRIDEPO
InParanoidP01588
Interologous Interaction database P01588
IntegromeDBEPO
STRING (EMBL)EPO
Ontologies - Pathways
Ontology : AmiGOerythropoietin receptor binding  hormone activity  protein binding  extracellular region  extracellular space  apoptotic process  signal transduction  embryo implantation  aging  blood circulation  positive regulation of cell proliferation  response to salt stress  cell surface  negative regulation of calcium ion transport into cytosol  peptidyl-serine phosphorylation  protein kinase activator activity  response to lipopolysaccharide  response to vitamin A  response to testosterone  positive regulation of tyrosine phosphorylation of Stat5 protein  hemoglobin biosynthetic process  erythrocyte maturation  response to estrogen  positive regulation of neuron differentiation  positive regulation of DNA replication  positive regulation of transcription, DNA-dependent  positive regulation of Ras protein signal transduction  response to axon injury  response to electrical stimulus  response to hyperoxia  regulation of transcription from RNA polymerase II promoter in response to hypoxia  response to interleukin-1  cellular response to hypoxia  cellular hyperosmotic response  negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress  negative regulation of erythrocyte apoptotic process  negative regulation of cation channel activity  
Ontology : EGO-EBIerythropoietin receptor binding  hormone activity  protein binding  extracellular region  extracellular space  apoptotic process  signal transduction  embryo implantation  aging  blood circulation  positive regulation of cell proliferation  response to salt stress  cell surface  negative regulation of calcium ion transport into cytosol  peptidyl-serine phosphorylation  protein kinase activator activity  response to lipopolysaccharide  response to vitamin A  response to testosterone  positive regulation of tyrosine phosphorylation of Stat5 protein  hemoglobin biosynthetic process  erythrocyte maturation  response to estrogen  positive regulation of neuron differentiation  positive regulation of DNA replication  positive regulation of transcription, DNA-dependent  positive regulation of Ras protein signal transduction  response to axon injury  response to electrical stimulus  response to hyperoxia  regulation of transcription from RNA polymerase II promoter in response to hypoxia  response to interleukin-1  cellular response to hypoxia  cellular hyperosmotic response  negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress  negative regulation of erythrocyte apoptotic process  negative regulation of cation channel activity  
Pathways : BIOCARTAErythropoietin mediated neuroprotection through NF-kB [Genes]    Erythrocyte Differentiation Pathway [Genes]    EPO Signaling Pathway [Genes]    Hypoxia-Inducible Factor in the Cardiovascular System [Genes]    Regulation of hematopoiesis by cytokines [Genes]   
Pathways : KEGGCytokine-cytokine receptor interaction    HIF-1 signaling pathway    PI3K-Akt signaling pathway    Jak-STAT signaling pathway    Hematopoietic cell lineage   
Protein Interaction DatabaseEPO
Wikipedia pathwaysEPO
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EPO
snp3D : Map Gene to Disease2056
SNP (GeneSNP Utah)EPO
SNP : HGBaseEPO
Genetic variants : HAPMAPEPO
Exome VariantEPO
1000_GenomesEPO 
ICGC programENSG00000130427 
Somatic Mutations in Cancer : COSMICEPO 
CONAN: Copy Number AnalysisEPO 
Mutations and Diseases : HGMDEPO
Genomic VariantsEPO  EPO [DGVbeta]
dbVarEPO
ClinVarEPO
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM133170    612623   
MedgenEPO
GENETestsEPO
Disease Genetic AssociationEPO
Huge Navigator EPO [HugePedia]  EPO [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneEPO
Homology/Alignments : Family Browser (UCSC)EPO
Phylogenetic Trees/Animal Genes : TreeFamEPO
Chemical/Protein Interactions : CTD2056
Chemical/Pharm GKB GenePA27833
Clinical trialEPO
Cancer Resource (Charite)ENSG00000130427
Other databases
Probes
Litterature
PubMed281 Pubmed reference(s) in Entrez
CoreMineEPO
iHOPEPO
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:54:32 CEST 2014

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