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The Endothelin Receptor ETB is expressed in most tissues. Mutations of the receptor gene are responsible for Hirschsprung disease type 2, a multigenic disorder with phenotypes such as bicolored irides, megacolon, hypopigmentation, and hearing loss. The ETB receptor has similar affinity for all three endothelins and activates a phosphatidylinositol-calcium second messenger system. A splice variant, termed SVR, has been described; the sequence of the ETB-SVR receptor is identical to ET-B receptor, with the exception of the intracellular C-terminal domain. While both splice variants bind endothelin ET1, they exhibit different responses, which suggests that they may be functionally distinct.
|Gene Name:||endothelin receptor type B|
|Family/Subfamily:||GPCR , Endothelin|
|Synonyms:||EDNRB, ABCDS, Endothelin B receptor, Etb receptor, ET-B, Et-b receptor, Et-b-r, ET-RB, ETBR, ETRB, Etb-svr, WS4A, Endothelin receptor type B, ET-BR, ETB, HSCR, HSCR2|
|Target Sequences:||NM_000115 NP_000106.1 P24530|
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