| EPOR |
| LOCUS ID | 2057 | |||||||||||||
| GENE_SYMBOL | EPOR | |||||||||||||
| GENE NAME | erythropoietin recep | |||||||||||||
| SYNONYMNS | EPO-R | |||||||||||||
| CHROMOSOME | 19 | |||||||||||||
| HOMOLOGENE ID | 95 |
| microRNAs | NA | NA |
| 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. Dysregula |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. 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 |
| Insulin resistance and inflammation | 1. In addition, also through EPOR, pHBSP attenuated macrophage inflammatory activation and promoted PPAR? expression. | 26459940 |