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Gene

EPOR

erythropoietin receptor

Summary

Cytogenetic location
19p13.2
Coordinates
Chromosome 19: 11,377,207–11,384,314 (GRCh38)
Exons
8 exons across 7.1 kb
Protein
508 amino acids
Inheritance
Autosomal dominant
Also known as
EPO-R
MANE Select transcript
ENST00000222139.11NM_000121.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Polycythemia

    • Primary Familial Polycythemia Due To Epo Receptor MutationAutosomal dominant

      Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How EPOR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 19, with a bracket where EPOR sits. EPOR and 31 genes near it on chromosome 19, from 10,880,761 to 11,880,760.Chromosome 1919p13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4311 Mb11.2 Mb11.4 Mb11.6 Mb11.8 MbCARM1: 10,871,447–10,923,081, forward strandCARM1YIPF2: 10,918,919–10,928,704, reverse strandYIPF2TIMM29: 10,928,716–10,933,535, forward strandTIMM29SMARCA4: 10,960,824–11,079,426, forward strandSMARCA4LDLR: 11,089,418–11,133,830, forward strandLDLRSPC24: 11,131,419–11,155,815, reverse strandSPC24KANK2: 11,164,264–11,197,945, reverse strandKANK2DOCK6: 11,199,295–11,262,533, reverse strandDOCK6ANGPTL8: 11,237,502–11,245,478, forward strandANGPTL8TSPAN16: 11,296,139–11,326,996, forward strandRAB3D: 11,322,047–11,346,433, reverse strandTMEM205: 11,342,775–11,346,534, reverse strandTMEM205CCDC159: 11,344,684–11,354,948, forward strandPLPPR2: 11,355,386–11,365,698, forward strandPLPPR2SWSAP1: 11,374,658–11,379,194, forward strandSWSAP1EPOR: 11,377,207–11,384,314, reverse strandEPORRGL3: 11,384,341–11,419,372, reverse strandRGL3ODAD3: 11,420,604–11,435,782, reverse strandODAD3PRKCSH: 11,422,369–11,450,969, forward strandPRKCSHELAVL3: 11,451,326–11,481,051, reverse strandELAVL3: 11,466,240–11,505,698, reverse strandZNF653: 11,483,134–11,505,839, reverse strandZNF653ECSIT: 11,505,916–11,540,137, reverse strandECSITCNN1: 11,538,767–11,550,323, forward strandCNN1ELOF1: 11,551,147–11,559,325, reverse strandELOF1ZNF627: 11,559,374–11,622,582, forward strandZNF627ACP5: 11,574,653–11,579,993, reverse strandACP5ZNF823: 11,721,263–11,739,027, reverse strandZNF823ZNF441: 11,767,000–11,784,078, forward strandZNF441ZNF491: 11,797,642–11,809,622, forward strandZNF491ZNF440: 11,814,257–11,835,567, forward strandZNF440ZNF439: 11,848,716–11,883,750, forward strandZNF439Diagram of EPOR: 8 exons on the reverse strand of chromosome 19Exon 8: 11,377,207–11,378,595, 1,389 basesExon 7: 11,378,691–11,378,778, 88 basesExon 6: 11,380,884–11,380,971, 88 basesExon 5: 11,381,056–11,381,209, 154 basesExon 4: 11,381,692–11,381,849, 158 basesExon 3: 11,381,930–11,382,105, 176 basesExon 2: 11,383,097–11,383,232, 136 basesExon 1: 11,384,093–11,384,314, 222 bases876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.4 kb of the gene's 7.1 kb; 1,527 of those bases code for the protein.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). EPOR gene: erythropoietin receptor. Retrieved 16 October 2026, from https://dantelabs.com/genes/epor

Vancouver

Dante Labs. EPOR gene: erythropoietin receptor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/epor

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