EPOR, Official Symbol EPORprovided by HGNC Official Full Name erythropoietin receptorprovided by HGNC Primary source HGNC:HGNC:3416 See related Ensembl:ENSG00000187266 MIM:133171; AllianceGenome:HGNC:3416 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EPO-R Summary This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Expression Broad expression in bone marrow (RPKM 14.6), thyroid (RPKM 11.4) and 22 other tissues See more Orthologs mouse all