Full name: endothelin 3

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ET-3; ET3; HSCR4; PPET3; WS4B

Summary: The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Expression: Biased expression in small intestine (RPKM 16.6), duodenum (RPKM 16.3) and 11 other tissues

Gene size: 25382bp

Exon count: 6