Aliases for EPOR Gene
External Ids for EPOR Gene
Previous GeneCards Identifiers for EPOR Gene
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]
GeneCards Summary for EPOR Gene
EPOR (Erythropoietin Receptor) is a Protein Coding gene. Diseases associated with EPOR include Erythrocytosis, Familial, 1 and Polycythemia. Among its related pathways are Activation of cAMP-Dependent PKA and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include identical protein binding and erythropoietin receptor activity. An important paralog of this gene is MPL.
UniProtKB/Swiss-Prot Summary for EPOR Gene
Receptor for erythropoietin. Mediates erythropoietin-induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase.
Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling.