Entrez gene ID | | 2057 |
Official gene symbol | | EPOR |
Full name | | erythropoietin receptor |
Aliases | | ,MGC138358, |
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 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. |
Location | | Chromosome: 19 Locus: 19p13.3-p13.2 |
Gene position | | 11495018 - 11487881 Map Viewer |
Gene orientation | | minus |
Gene size | | 7138 bp |
Gene sequence |
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OMIM ID | | 133171 |
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