External Ids for EPO Gene
Previous GeneCards Identifiers for EPO Gene
This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]
GeneCards Summary for EPO Gene
EPO (Erythropoietin) is a Protein Coding gene. Diseases associated with EPO include Diamond-Blackfan Anemia-Like and Erythrocytosis, Familial, 5. Among its related pathways are Hematopoietic cell lineage and Development EPO-induced Jak-STAT pathway. Gene Ontology (GO) annotations related to this gene include hormone activity and erythropoietin receptor binding.
UniProtKB/Swiss-Prot Summary for EPO Gene
Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3.