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Title: Ednrb  
Author: World Heritage Encyclopedia
Language: English
Subject: Hirschsprung's disease, Waardenburg syndrome, Lethal white syndrome, Leucism, White (horse)
Publisher: World Heritage Encyclopedia


Endothelin receptor type B
RNA expression pattern

Endothelin receptor type B, also known as ETB is a protein that in humans is encoded by the EDNRB gene.[1]


Endothelin receptor type B is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. A splice variant, named SVR, has been described; the sequence of the ETB-SVR receptor is identical to ETRB except for the intracellular C-terminal domain. While both splice variants bind ET1, they exhibit different responses upon binding which suggests that they may be functionally distinct.[2]


In melanocytic cells the EDNRB gene is regulated by the microphthalmia-associated transcription factor. Mutations in either gene are links to Waardenburg syndrome.[3][4]

Clinical significance

The multigenic disorder, Hirschsprung disease type 2, is due to mutation in endothelin receptor type B gene.[5]

In horses, a mutation in the middle of the EDNRB gene, Ile118Lys, when homozygous, causes Lethal White Syndrome.[6] In this mutation, a mismatch in the DNA replication causes isoleucine to be made instead of lysine.[6] The resulting EDNRB protein is unable to fulfill its role in the development of the embryo, limiting the migration of the melanocyte and enteric neuron precursors. A single copy of the EDNRB mutation, the heterozygous state, produces an identifiable and completely benign spotted coat color called frame overo.[7]


Endothelin receptor type B has been shown to interact with Caveolin 1.[8]

See also


External links

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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