AlphaFold predicted structure
EPOR · P19235
Mean pLDDT
66.9/ 100
Low
508 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)14%
- Low(50–70)11%
- Very low(< 50)41%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
EPOR
Chr 19p13.2erythropoietin receptor
- Aliases:
- EPO-R
- MANE:
- ENST00000222139.11
Annotations refreshed 8 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Hereditary Erythrocytosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
anemia (phenotype)
0.62anemia
0.62chronic kidney disease
0.61cancer
0.59chronic renal failure syndrome
0.57myelodysplastic syndrome
0.57primary familial polycythemia due to EPO receptor mutation
0.54blood transfusion
0.46stage 5 chronic kidney disease
0.40heart failure
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Erythropoietin receptor
Receptor for erythropoietin, which mediates erythropoietin-induced erythroblast proliferation and differentiation (PubMed:10388848, PubMed:2163695, PubMed:2163696, PubMed:8662939, PubMed:9774108). Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade (By similarity). In some cell types, can also activate STAT1 and STAT3 (PubMed:11756159). May also activate the LYN tyrosine kinase (By similarity)
Diseases associated with EPOR
Curated MONDO disease pages that list EPOR among their top associated genes.