| Entrez gene ID | | 1910 |
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| Official gene symbol | | EDNRB |
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| Full name | | endothelin receptor type B |
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| Aliases | | ,ABCDS,ETB,ETBR,ETRB,HSCR,HSCR2,WS4A, |
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| Gene 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. Three transcript variants encoding two different isoforms have been found for this gene. While both isoforms bind ET1, they exhibit different responses upon binding, suggesting that they may be functionally distinct. [provided by RefSeq] |
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| Location | | Chromosome: 13 Locus: 13q22 |
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| Gene position | | 78492966 - 78469616 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 23351 bp |
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| Gene sequence |
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| OMIM ID | | 131244 |
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