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Genetics Home Reference: your guide to understanding genetic conditions
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EDNRB

Reviewed August 2012

What is the official name of the EDNRB gene?

The official name of this gene is “endothelin receptor type B.”

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

What is the normal function of the EDNRB gene?

The EDNRB gene provides instructions for making a protein called endothelin receptor type B. This protein is located on the surface of cells and functions as a signaling mechanism, transmitting information from outside the cell to inside the cell. The receptor interacts with proteins called endothelins to regulate several critical biological processes, including the development and function of blood vessels, the production of certain hormones, and the stimulation of cell growth and division.

Endothelin 3 (produced from the EDN3 gene) is one of the proteins that interacts with endothelin receptor type B. During early development before birth (embryonic development), endothelin 3 and endothelin receptor type B together play an important role in neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. In particular, endothelin 3 and its receptor are essential for the normal formation of nerves in the intestine (enteric nerves) and melanocytes. Melanocytes are cells that produce melanin, a pigment that contributes to skin, hair, and eye color. Melanin is also involved in the normal function of the inner ear.

Does the EDNRB gene share characteristics with other genes?

The EDNRB gene belongs to a family of genes called GPCR (G protein-coupled receptors).

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 EDNRB gene related to health conditions?

Hirschsprung disease - caused by mutations in the EDNRB gene

More than 15 mutations in the EDNRB gene have been found to cause Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Although Hirschsprung disease is a feature of another condition called Waardenburg syndrome, type IV (described below), EDNRB gene mutations can also cause Hirschsprung disease in people without Waardenburg syndrome. People with a mutation in one of the two copies of the EDNRB gene tend to develop Hirschsprung disease, while people with mutations in both copies of the gene usually develop Waardenburg syndrome, type IV. Most of these mutations change single DNA building blocks (nucleotides) in the gene. Changes in the EDNRB gene disrupt the normal function of endothelin receptor type B, preventing it from playing its usual role in the development of enteric nerves. As a result, these cells do not form normally during embryonic development. A lack of enteric nerves prevents stool from being moved through the intestine normally, leading to severe constipation or intestinal blockage.

Waardenburg syndrome - caused by mutations in the EDNRB gene

At least 5 mutations in the EDNRB gene have been identified in people with Waardenburg syndrome, type IV (also known as Waardenburg-Shah syndrome). This type of Waardenburg syndrome is characterized by changes in skin, hair, and eye coloring; hearing loss; and Hirschsprung disease. Mutations in the EDNRB gene disrupt the normal function of endothelin receptor type B or lead to the production of an abnormally small, nonfunctional version of the protein. Because the receptor is necessary for the formation of enteric nerves and melanocytes, these cell types do not form normally during embryonic development. Missing enteric nerves in certain parts of the intestine cause the signs and symptoms of Hirschsprung disease. A lack of melanocytes affects the coloring of skin, hair, and eyes and causes the hearing loss characteristic of Waardenburg syndrome.

cancers - increased risk from variations of the EDNRB gene

Several studies have suggested that variations in the EDNRB gene may be associated with an increased risk of melanoma, a common form of skin cancer that begins in melanocytes. Additional studies of melanoma patients are needed to confirm this gene's role in cancer risk.

Where is the EDNRB gene located?

Cytogenetic Location: 13q22

Molecular Location on chromosome 13: base pairs 77,895,480 to 77,975,528

The EDNRB gene is located on the long (q) arm of chromosome 13 at position 22.

The EDNRB gene is located on the long (q) arm of chromosome 13 at position 22.

More precisely, the EDNRB gene is located from base pair 77,895,480 to base pair 77,975,528 on chromosome 13.

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 EDNRB?

You and your healthcare professional may find the following resources about EDNRB 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 EDNRB gene or gene products?

  • ABCDS
  • EDNRB_HUMAN
  • Endothelin receptor non-selective type
  • ETB
  • ETBR
  • ETRB
  • HSCR
  • HSCR2
  • RP11-318G21.1
  • WS4A

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 EDNRB?

cancer ; cell ; constipation ; DNA ; embryo ; embryonic ; enteric ; gene ; intestine ; melanin ; melanocytes ; melanoma ; mutation ; neural crest ; pigment ; protein ; receptor ; stool ; syndrome

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

References

  • Abe Y, Sakurai T, Yamada T, Nakamura T, Yanagisawa M, Goto K. Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients. Biochem Biophys Res Commun. 2000 Aug 28;275(2):524-31. (http://www.ncbi.nlm.nih.gov/pubmed/10964697?dopt=Abstract)
  • Amiel J, Attié T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fékété C, Munnich A, Lyonnet S. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet. 1996 Mar;5(3):355-7. (http://www.ncbi.nlm.nih.gov/pubmed/8852660?dopt=Abstract)
  • Barlow A, de Graaff E, Pachnis V. Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET. Neuron. 2003 Dec 4;40(5):905-16. (http://www.ncbi.nlm.nih.gov/pubmed/14659090?dopt=Abstract)
  • Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell. 1994 Dec 30;79(7):1277-85. (http://www.ncbi.nlm.nih.gov/pubmed/8001160?dopt=Abstract)
  • Duan XL, Zhang XS, Li GW. Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease. World J Gastroenterol. 2003 Dec;9(12):2839-42. (http://www.ncbi.nlm.nih.gov/pubmed/14669347?dopt=Abstract)
  • OMIM: ENDOTHELIN RECEPTOR, TYPE B (http://omim.org/entry/131244)
  • Heuckeroth RO. Finding your way to the end: a tale of GDNF and endothelin-3. Neuron. 2003 Dec 4;40(5):871-3. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14659083?dopt=Abstract)
  • Kapur RP, Gershon MD, Milla PJ, Pachnis V. The influence of Hox genes and three intercellular signalling pathways on enteric neuromuscular development. Neurogastroenterol Motil. 2004 Apr;16 Suppl 1:8-13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15065997?dopt=Abstract)
  • Kruger GM, Mosher JT, Tsai YH, Yeager KJ, Iwashita T, Gariepy CE, Morrison SJ. Temporally distinct requirements for endothelin receptor B in the generation and migration of gut neural crest stem cells. Neuron. 2003 Dec 4;40(5):917-29. (http://www.ncbi.nlm.nih.gov/pubmed/14659091?dopt=Abstract)
  • Lahav R, Suvà ML, Rimoldi D, Patterson PH, Stamenkovic I. Endothelin receptor B inhibition triggers apoptosis and enhances angiogenesis in melanomas. Cancer Res. 2004 Dec 15;64(24):8945-53. (http://www.ncbi.nlm.nih.gov/pubmed/15604257?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1910)
  • Pingault V, Bondurand N, Lemort N, Sancandi M, Ceccherini I, Hugot JP, Jouk PS, Goossens M. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? J Med Genet. 2001 Mar;38(3):205-9. (http://www.ncbi.nlm.nih.gov/pubmed/11303518?dopt=Abstract)
  • Pla P, Larue L. Involvement of endothelin receptors in normal and pathological development of neural crest cells. Int J Dev Biol. 2003 Jun;47(5):315-25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12895026?dopt=Abstract)
  • Soufir N, Meziani R, Lacapère JJ, Bertrand G, Fumeron F, Bourillon A, Gérard B, Descamps V, Crickx B, Ollivaud L, Archimbaud A, Lebbe C, Basset-Seguin N, Saiag P, Grandchamp B; Investigators of the Melan-Cohort. Association between endothelin receptor B nonsynonymous variants and melanoma risk. J Natl Cancer Inst. 2005 Sep 7;97(17):1297-301. (http://www.ncbi.nlm.nih.gov/pubmed/16145050?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: November 17, 2014