EPOR Chromosome 19
Erythropoietin receptor
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What This Gene Does
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]
Gene Info
Gene Group
Fibronectin type III domain containing
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000187266
Associated Conditions (3)
Primary familial polycythemia due to EPO receptor mutation
Inborn genetic diseases
Acute megakaryoblastic leukemia without down syndrome
Key Variants
RS146235694
Conflicting classifications of pathogenicity
Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
Health Risk
RS199645071
Conflicting classifications of pathogenicity
Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
Health Risk
RS370865377
Conflicting classifications of pathogenicity
Health Risk
RS62638744
Conflicting classifications of pathogenicity
Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
Health Risk
RS776887278
Conflicting classifications of pathogenicity
Primary familial polycythemia due to EPO receptor mutation, Inborn genetic diseases, Primary familial polycythemia due to EPO receptor mutation
Health Risk
RS780617943
Conflicting classifications of pathogenicity
Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
Health Risk
RS121917830
Likely pathogenic
Primary familial polycythemia due to EPO receptor mutation, Acute megakaryoblastic leukemia without down syndrome, Primary familial polycythemia due to EPO receptor mutation
Health Risk
RS1555716523
Likely pathogenic
Health Risk
RS121918116
Pathogenic
Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146235694 | Health Risk | Conflicting classifications of pathogenicity | Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |
| RS199645071 | Health Risk | Conflicting classifications of pathogenicity | Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |
| RS370865377 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS62638744 | Health Risk | Conflicting classifications of pathogenicity | Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |
| RS776887278 | Health Risk | Conflicting classifications of pathogenicity | Primary familial polycythemia due to EPO receptor mutation, Inborn genetic diseases, Primary familial polycythemia due to EPO receptor mutation |
| RS780617943 | Health Risk | Conflicting classifications of pathogenicity | Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |
| RS121917830 | Health Risk | Likely pathogenic | Primary familial polycythemia due to EPO receptor mutation, Acute megakaryoblastic leukemia without down syndrome, Primary familial polycythemia due to EPO receptor mutation |
| RS1555716523 | Health Risk | Likely pathogenic | — |
| RS121918116 | Health Risk | Pathogenic | Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |
| RS121917831 | Trait | Affects | Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |
| RS1555716041 | Trait | Affects | Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |
| RS1555716045 | Trait | Affects | Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |
| RS1555716047 | Trait | Affects | Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |
| RS2144694000 | Trait | Affects | Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |