EPO gene

GPTKB entity

Statements (40)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias gptkb:erythropoietin
gptkb:EP
MVCD2
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:anemia
polycythemia
gptkbp:biologicalProcess hormone activity
erythrocyte differentiation
response to decreased oxygen levels
gptkbp:cellularComponent extracellular region
gptkbp:discoveredBy Eugene Goldwasser
gptkbp:encodes gptkb:erythropoietin
gptkbp:Entrez_Gene_ID 2056
ENSG00000130427
gptkbp:expressedIn gptkb:kidney
liver
gptkbp:firstDescribed 1977
gptkbp:fullName gptkb:erythropoietin_gene
gptkbp:function response to hypoxia
regulation of erythropoiesis
gptkbp:geneType protein-coding
gptkbp:HGNC_ID HGNC:3416
https://www.w3.org/2000/01/rdf-schema#label EPO gene
gptkbp:locatedOnChromosome 7q22.1
gptkbp:mutationAssociatedWith can cause anemia
can cause familial erythrocytosis
gptkbp:OMIM 133170
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologIn Mus musculus (mouse)
Rattus norvegicus (rat)
gptkbp:product gptkb:erythropoietin
gptkbp:regulates induced by hypoxia-inducible factor (HIF)
gptkbp:significance target for anemia therapy
target for erythropoiesis-stimulating agents
gptkbp:symbol gptkb:EPO
gptkbp:UniProtID P01588
gptkbp:bfsParent gptkb:Erythropoietin
gptkb:erythropoietin
gptkbp:bfsLayer 6