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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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EPOR
erythropoietin receptor
Chromosome 19 Β· 19p13.2
NCBI Gene: 2057Ensembl: ENSG00000187266.15HGNC: HGNC:3416UniProt: P19235
260PubMed Papers
21Diseases
11Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingidentical protein bindingerythropoietin-mediated signaling pathwayerythropoietin receptor activityanemia (phenotype)chronic kidney diseasecanceranemia
✦AI Summary

EPOR (erythropoietin receptor) is a 66 kDa transmembrane protein that functions as the primary receptor for erythropoietin (EPO) signaling 1. Its cardinal role is regulating erythropoiesis in bone marrow, where it promotes erythroblast survival, proliferation, and differentiation 2. EPOR signaling increases both the speed and number of erythroblast cell cycles while paradoxically increasing red cell size independent of iron regulation 3. Beyond hematopoiesis, EPOR is expressed in non-hematopoietic tissues including endothelium and adipose tissue, where it exerts cytoprotective functions and regulates metabolic homeostasis through the EPO-EPOR-RUNX1 axis 24. Pathogenic EPOR variants cause primary familial and congenital polycythemia, characterized by increased red cell mass and EPO hypersensitivity in erythroid progenitors 5. Additionally, CD163+EPOR+ tumor-associated macrophages in osteosarcoma metastases express high M2 markers and are associated with tumor aggressiveness and poor survival 6. The EPO-EPOR pathway also contributes to tumor angiogenesis and neovascularization 4. EPOR signaling involves multiple downstream pathways beyond classical survival mechanisms, including novel response factors and receptor trafficking regulation 7.

Sources cited
1
EPOR is a 66 kDa membrane protein capable of binding EPO with nanomolar affinity
PMID: 1453011
2
EPOR signaling increases erythroblast cell cycle speed and number while increasing red cell size independent of iron
PMID: 34921133
3
EPOR promotes erythroid progenitor survival and differentiation; expressed in non-hematopoietic tissues; regulates metabolism via EPO-EPOR-RUNX1 axis
PMID: 39996752
4
Pathogenic EPOR variants cause primary familial and congenital polycythemia with EPO hypersensitivity
PMID: 36292571
5
CD163+EPOR+ tumor-associated macrophages in osteosarcoma are associated with tumor aggressiveness and poor prognosis
PMID: 32908942
6
EPOR participates in tumor angiogenesis and neovascularization
PMID: 30576679
7
EPOR signaling involves multiple downstream pathways and novel response mechanisms beyond classical survival
PMID: 20173635
Disease Associationsβ“˜21
anemia (phenotype)Open Targets
0.62Moderate
chronic kidney diseaseOpen Targets
0.61Moderate
cancerOpen Targets
0.61Moderate
anemiaOpen Targets
0.60Moderate
chronic renal failure syndromeOpen Targets
0.59Moderate
myelodysplastic syndromeOpen Targets
0.56Moderate
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.54Moderate
blood transfusionOpen Targets
0.49Moderate
HIV infectionOpen Targets
0.47Moderate
kidney diseaseOpen Targets
0.40Weak
breast cancerOpen Targets
0.39Weak
brain ischemiaOpen Targets
0.33Weak
lymphomaOpen Targets
0.33Weak
brain injuryOpen Targets
0.33Weak
diffuse large B-cell lymphomaOpen Targets
0.33Weak
chronic hepatitis C virus infectionOpen Targets
0.32Weak
kidney failureOpen Targets
0.31Weak
myocardial infarctionOpen Targets
0.30Weak
acute kidney injuryOpen Targets
0.29Weak
premature birthOpen Targets
0.28Weak
Erythrocytosis, familial, 1UniProt
Pathogenic Variants6
NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter)Pathogenic
Primary familial polycythemia due to EPO receptor mutation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 439
NM_000121.4(EPOR):c.1340del (p.Pro447fs)Likely pathogenic
Primary familial polycythemia due to EPO receptor mutation
β˜…β˜†β˜†β˜†2025β†’ Residue 447
NM_000121.4(EPOR):c.1195G>T (p.Glu399Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 399
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)Likely pathogenic
Primary familial polycythemia due to EPO receptor mutation|Acute megakaryoblastic leukemia without down syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 439
NM_000121.4(EPOR):c.465_481dup (p.His161fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 161
NM_000121.4(EPOR):c.950G>A (p.Trp317Ter)Likely pathogenic
Primary familial polycythemia due to EPO receptor mutation
β˜†β˜†β˜†β˜†2025β†’ Residue 317
View on ClinVar β†—
Drug Targets11
CIBINETIDEPhase II
Innate repair receptor agonist
depressive disorder
DARBEPOETIN ALFAApproved
Erythropoietin receptor agonist
chronic kidney disease
EFEPOETIN ALFAApproved
Erythropoietin receptor agonist
anemia (phenotype)
EPOETIN ALFAApproved
Erythropoietin receptor agonist
EPOETIN BETAApproved
Erythropoietin receptor agonist
anemia (phenotype)
EPOETIN DELTAApproved
Erythropoietin receptor agonist
chronic kidney disease
EPOETIN THETAApproved
Erythropoietin receptor agonist
cancer
EPOETIN ZETAApproved
Erythropoietin receptor agonist
METHOXY POLYETHYLENE GLYCOL-EPOETIN BETAApproved
Erythropoietin receptor agonist
anemia
PEGINESATIDEApproved
Erythropoietin receptor agonist
anemia (phenotype)
PEGINESATIDE ACETATEApproved
Erythropoietin receptor agonist
Related Genes
NPTNProtein interaction99%GRB2Protein interaction98%THPOProtein interaction97%IL6Protein interaction96%TFR2Protein interaction95%LOC102723407Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
36%
Lung
26%
Heart
14%
Ovary
8%
Brain
4%
Gene Interaction Network
Click a node to explore
EPORNPTNGRB2THPOIL6TFR2LOC102723407
PROTEIN STRUCTURE
Preparing viewer…
PDB1EER Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.39–0.79]
RankingsWhere EPOR stands among ~20K protein-coding genes
  • #1,456of 20,598
    Most Researched260 Β· top 10%
  • #154of 1,025
    FDA-Approved Drug Targets10 Β· top quartile
  • #3,300of 5,498
    Most Pathogenic Variants6
  • #6,478of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedEPOR
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Identification of Two Novel
PMID: 36292571
Genes (Basel) Β· 2022
1.00
2
Identification and Functional Analysis of EPOR
PMID: 32908942
J Immunol Res Β· 2020
0.90
3
EpoR stimulates rapid cycling and larger red cells during mouse and human erythropoiesis.
PMID: 34921133
Nat Commun Β· 2021
0.80
4
Relationships of P53 and Bak with EPO and EPOR in human colorectal cancer.
PMID: 19846965
Anticancer Res Β· 2009
0.72
5
Erythropoietin in tumor angiogenesis.
PMID: 30576679
Exp Cell Res Β· 2019
0.70