EDNRB gene

The EDNRB gene (EDNRB stands for: Endothelin receptor type B) is a protein coding gene located on chromosome 13q22.3. Alternative splicing and the use of alternative promoters lead to several transcript variants. An important paralog of this gene is EDNRA.

The protein encoded by this gene is a G-protein-coupled receptor that activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three vasoactive peptides: ET1, ET2 and ET3.

Diseases associated with EDNRB include

Waardenburg syndrome, type 4A

and

ABCD syndrome (variant of Waardenburg syndrome, type 4A)

It is suspected that the multigenic disorder "Hirschsprung's disease type 2" is due to mutations in the endothelin receptor type B gene (Ding HY et al. 2024).

The endothelinB receptor (ETB receptor) is a member of the endothelin receptor group of G-protein-coupled receptors, which includes ETA. The receptors are mainly located in vascular endothelial cells, where they play a role in vasoconstriction, vasodilation and cell proliferation.

Initial assumptions about a connection between the EDNRB polymorphisms and a sporadic melanoma risk could not be confirmed. However, there is evidence that EDNRB may be a melanoma predisposing gene in patients with a suspected hereditary predisposition to melanoma (Spica T et al. 2011).

1. Ding HY et al. (2024) High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease. Pediatr Surg Int 40:38.
2. Spica T et al. (2011) EDNRB gene variants and melanoma risk in two southern European populations. Clin Exp Dermatol 36:782-787.