EPO

Chr 7q22.1

erythropoietin

Aliases:: EP
MANE:: ENST00000252723.3

OMIM: 133170 ↗NCBI: 2056 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

EPO · P01588

v62025-08-01

Predicted Aligned Error matrix for EPO — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.4/ 100

Confident

193 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)19%
Low(50–70)14%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary Erythrocytosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenias and congenital anaemias
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

primary familial polycythemia due to EPO receptor mutation
0.71
Blackfan-Diamond anemia
0.51
anemia (phenotype)
0.41
diabetic retinopathy
0.38
autosomal dominant secondary polycythemia
0.37
hypothyroidism
0.24
neurodegenerative disease
0.18
polycythemia
0.16
type 2 diabetes mellitus
0.15
diabetes mellitus
0.14

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Erythropoietin

Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass (PubMed:28283061). Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3 (PubMed:9774108)