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Genetics Home Reference: your guide to understanding genetic conditions
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EPOR

Reviewed August 2012

What is the official name of the EPOR gene?

The official name of this gene is “erythropoietin receptor.”

EPOR is the gene's official symbol. The EPOR gene is also known by other names, listed below.

What is the normal function of the EPOR gene?

The EPOR gene provides instructions for making a protein called the erythropoietin receptor. Erythropoietin is a hormone that directs the production of new red blood cells (erythrocytes) in the bone marrow. Red blood cells make up about half of total blood volume, and their primary function is to carry oxygen from the lungs to tissues and organs throughout the body. New red blood cells are constantly being produced by the body as worn-out red blood cells are broken down. To trigger the production of red blood cells, erythropoietin attaches (binds) to the erythropoietin receptor. This binding turns on (activates) the receptor, which stimulates several signaling pathways (particularly a cascade of signals known as the JAK/STAT pathway) that lead to the formation and maturation of red blood cells.

Does the EPOR gene share characteristics with other genes?

The EPOR gene belongs to a family of genes called fibronectin type III domain containing (fibronectin type III domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the EPOR gene related to health conditions?

familial erythrocytosis - caused by mutations in the EPOR gene

At least 16 mutations in the EPOR gene have been found to cause familial erythrocytosis, an inherited condition characterized by an increased number of red blood cells and an elevated risk of abnormal blood clots. When familial erythrocytosis results from EPOR gene mutations, it is often designated ECYT1.

Most of the identified mutations in the EPOR gene lead to the production of an abnormally short version of the erythropoietin receptor. A few mutations change single protein building blocks (amino acids) in the receptor. All of these mutations alter the structure of the receptor, causing it to remain activated for an abnormally long time after binding to erythropoietin. The overactive receptor signals the production of red blood cells even when no more are needed, which leads to an excess of these cells in the bloodstream.

Where is the EPOR gene located?

Cytogenetic Location: 19p13.3-p13.2

Molecular Location on chromosome 19: base pairs 11,377,204 to 11,384,341

The EPOR gene is located on the short (p) arm of chromosome 19 between positions 13.3 and 13.2.

The EPOR gene is located on the short (p) arm of chromosome 19 between positions 13.3 and 13.2.

More precisely, the EPOR gene is located from base pair 11,377,204 to base pair 11,384,341 on chromosome 19.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about EPOR?

You and your healthcare professional may find the following resources about EPOR helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the EPOR gene or gene products?

  • EPO-R
  • EPOR_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding EPOR?

acids ; bone marrow ; cytokine ; familial ; gene ; hormone ; inherited ; oxygen ; protein ; receptor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Al-Sheikh M, Mazurier E, Gardie B, Casadevall N, Galactéros F, Goossens M, Wajcman H, Préhu C, Ugo V. A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene. Haematologica. 2008 Jul;93(7):1072-5. doi: 10.3324/haematol.12260. Epub 2008 May 19. (http://www.ncbi.nlm.nih.gov/pubmed/18492694?dopt=Abstract)
  • Constantinescu SN, Ghaffari S, Lodish HF. The Erythropoietin Receptor: Structure, Activation and Intracellular Signal Transduction. Trends Endocrinol Metab. 1999 Dec;10(1):18-23. (http://www.ncbi.nlm.nih.gov/pubmed/10322390?dopt=Abstract)
  • de la Chapelle A, Träskelin AL, Juvonen E. Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci U S A. 1993 May 15;90(10):4495-9. (http://www.ncbi.nlm.nih.gov/pubmed/8506290?dopt=Abstract)
  • Hodges VM, Rainey S, Lappin TR, Maxwell AP. Pathophysiology of anemia and erythrocytosis. Crit Rev Oncol Hematol. 2007 Nov;64(2):139-58. Epub 2007 Jul 25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17656101?dopt=Abstract)
  • Huang LJ, Shen YM, Bulut GB. Advances in understanding the pathogenesis of primary familial and congenital polycythaemia. Br J Haematol. 2010 Mar;148(6):844-52. doi: 10.1111/j.1365-2141.2009.08069.x. Epub 2010 Jan 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20096014?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2057)
  • Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis. Am J Hematol. 2009 Jan;84(1):46-54. doi: 10.1002/ajh.21313. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19006225?dopt=Abstract)
  • Percy MJ. Genetically heterogeneous origins of idiopathic erythrocytosis. Hematology. 2007 Apr;12(2):131-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17454194?dopt=Abstract)
  • Watowich SS, Xie X, Klingmuller U, Kere J, Lindlof M, Berglund S, de la Chapelle A. Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. Blood. 1999 Oct 1;94(7):2530-2. (http://www.ncbi.nlm.nih.gov/pubmed/10498627?dopt=Abstract)
  • Watowich SS. The erythropoietin receptor: molecular structure and hematopoietic signaling pathways. J Investig Med. 2011 Oct;59(7):1067-72. doi: 10.231/JIM.0b013e31820fb28c. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21307776?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2012
Published: December 22, 2014