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Gene

EPO

erythropoietin

Summary

Cytogenetic location
7q22.1
Coordinates
Chromosome 7: 100,720,468–100,723,700 (GRCh38)
Exons
5 exons across 3.2 kb
Protein
193 amino acids
Inheritance
Autosomal dominant
Also known as
EP
MANE Select transcript
ENST00000252723.3NM_000799.4
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

    • Familial Erythrocytosis 5 (EPO)Autosomal dominant

      A dominant form of inherited erythrocytosis caused by changes in the EPO gene that increase production of the hormone erythropoietin.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the inherited cause avoids it being mistaken for polycythaemia vera or other acquired causes, and spares unnecessary investigations.

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 EPO is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
Chromosome 7, with a bracket where EPO sits. EPO and 40 genes near it on chromosome 7, from 100,222,084 to 101,222,083.Chromosome 77q22.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3100.4 Mb100.6 Mb100.8 Mb101 Mb101.2 MbSPDYE3: 100,307,702–100,322,372, forward strandSPDYE3PILRB: 100,351,627–100,367,831, forward strandPILRBPILRA: 100,367,530–100,400,098, forward strand: 100,397,577–100,434,107, forward strandZCWPW1: 100,400,826–100,428,992, reverse strandMEPCE: 100,428,322–100,435,138, forward strandMEPCEPPP1R35: 100,435,261–100,436,546, reverse strandPPP1R35SPACDR: 100,456,620–100,464,277, reverse strandSPACDRTSC22D4: 100,466,508–100,479,257, reverse strandTSC22D4: 100,478,099–100,478,170, reverse strandNYAP1: 100,483,605–100,494,802, forward strandNYAP1AGFG2: 100,539,169–100,569,429, forward strandAGFG2SAP25: 100,572,228–100,573,916, reverse strandLRCH4: 100,574,011–100,586,236, reverse strandLRCH4FBXO24: 100,583,982–100,601,117, forward strandPCOLCE: 100,602,321–100,608,175, forward strandPCOLCEMOSPD3: 100,612,102–100,616,004, forward strandMOSPD3TFR2: 100,620,416–100,642,779, reverse strandTFR2ACTL6B: 100,643,097–100,656,458, reverse strandACTL6BGNB2: 100,673,477–100,679,174, forward strandGNB2GIGYF1: 100,679,505–100,694,481, reverse strandGIGYF1POP7: 100,695,902–100,708,628, forward strandPOP7EPO: 100,720,468–100,723,700, forward strandEPOZAN: 100,733,595–100,797,797, forward strandZANEPHB4: 100,802,563–100,827,584, reverse strandEPHB4SLC12A9: 100,826,820–100,867,017, forward strandSLC12A9TRIP6: 100,867,126–100,873,524, forward strandTRIP6SRRT: 100,875,065–100,888,664, forward strandSRRTUFSP1: 100,888,721–100,889,715, reverse strandUFSP1ACHE: 100,889,993–100,897,022, reverse strandMUC3A: 100,949,414–100,968,348, forward strandMUC3AMUC12: 100,969,431–101,018,940, forward strandMUC12MUC17: 101,020,072–101,058,859, forward strandMUC17TRIM56: 101,085,234–101,097,967, forward strandTRIM56SERPINE1: 101,122,158–101,139,263, forward strandSERPINE1AP1S1: 101,154,352–101,161,596, forward strandAP1S1VGF: 101,162,509–101,167,245, reverse strandVGFNAT16: 101,170,496–101,180,301, reverse strandNAT16MOGAT3: 101,195,007–101,201,088, reverse strandPLOD3: 101,205,977–101,219,968, reverse strandPLOD3ZNHIT1: 101,218,117–101,224,195, forward strandZNHIT1Diagram of EPO: 5 exons on the forward strand of chromosome 7Exon 1: 100,720,468–100,720,993, 526 basesExon 2: 100,721,558–100,721,703, 146 basesExon 3: 100,721,962–100,722,048, 87 basesExon 4: 100,722,664–100,722,843, 180 basesExon 5: 100,722,978–100,723,700, 723 bases123455′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 1.7 kb of the gene's 3.2 kb; 582 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.). EPO gene: erythropoietin. Retrieved 17 October 2026, from https://dantelabs.com/genes/epo

Vancouver

Dante Labs. EPO gene: erythropoietin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/epo

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