EPOR
LOCUS ID2057
GENE_SYMBOLEPOR
GENE NAMEerythropoietin receptor
SYNONYMNSEPO-R
CHROMOSOME19
HOMOLOGENE ID95
microRNAsNANA
GENE 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 includingRaMAP 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. Alterte splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. chromosome 7q21, where the EPO gene is located, harbours a locus for increased susceptibility to diabetic nephropathy, which is consistent with a possible role of EPO in the pathogenesis of diabetic nephropathy.18952703