Gene Symbol | EDNRB |
Entrez Gene ID | 1910 |
Full Name | endothelin receptor type B |
Synonyms | ABCDS,ET-B,ET-BR,ETB,ETB1,ETBR,ETRB,HSCR,HSCR2,WS4A |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | {Hirschsprung disease, susceptibility to, 2}, 600155 (3); ABCD syndrome, 600501 (3); Waardenburg syndrome, type 4A, 277580 (3) |