Synonyms:ABCDS, EDNRB, ENTREZ:1910, ET-B, ET-BR, ETB, ETB1, ETBR, ETRB, HGNC:3180, HSCR, HSCR2, MIM:131244, NM_000115, NM_001122659, NM_001201397, NM_003991, NP_000106, NP_001116131, NP_001188326, NP_003982, NR_047024, WS4A, endothelin receptor type B
Omim:OMIM:131244
Id:ENSG00000136160
Hgnc:HGNC:3180
Description:endothelin receptor type B
The protein encoded by this gene 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. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]