Endothelin receptor type B

Endothelin receptor type B

Endothelin receptor type B, also known as EDNRB, is a human gene.

Endothelin receptor type B is a G protein-coupled receptor which activates a phosphatidylinoitol-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 mutation in endothelin receptor type B gene. A splice variant, named SVR, has been described; the sequence of the ETB-SVR receptor is identical to ETRB except for the intracellular C-terminal domain. While both splice variants bind ET1, they exhibit different responses upon binding which suggests that they may be functionally distinct. [cite web | title = Entrez Gene: EDNRB endothelin receptor type B| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1910| accessdate = ]

ee also

* Endothelin receptor

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Hofstra RM, Osinga J, Buys CH |title=Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. |journal=Eur. J. Hum. Genet. |volume=5 |issue= 4 |pages= 180–5 |year= 1998 |pmid= 9359036 |doi=
*cite journal | author=Haendler B, Hechler U, Schleuning WD |title=Molecular cloning of human endothelin (ET) receptors ETA and ETB. |journal=J. Cardiovasc. Pharmacol. |volume=20 Suppl 12 |issue= |pages= S1–4 |year= 1993 |pmid= 1282938 |doi=
*cite journal | author=Arai H, Nakao K, Hosoda K, "et al." |title= [Molecular cloning of human endothelin receptors and their expression in vascular endothelial cells and smooth muscle cells] |journal=Jpn. Circ. J. |volume=56 Suppl 5 |issue= |pages= 1303–7 |year= 1993 |pmid= 1291713 |doi=
*cite journal | author=Ogawa Y, Nakao K, Arai H, "et al." |title=Molecular cloning of a non-isopeptide-selective human endothelin receptor. |journal=Biochem. Biophys. Res. Commun. |volume=178 |issue= 1 |pages= 248–55 |year= 1991 |pmid= 1648908 |doi=
*cite journal | author=Cyr C, Huebner K, Druck T, Kris R |title=Cloning and chromosomal localization of a human endothelin ETA receptor. |journal=Biochem. Biophys. Res. Commun. |volume=181 |issue= 1 |pages= 184–90 |year= 1992 |pmid= 1659806 |doi=
*cite journal | author=Nakamuta M, Takayanagi R, Sakai Y, "et al." |title=Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor. |journal=Biochem. Biophys. Res. Commun. |volume=177 |issue= 1 |pages= 34–9 |year= 1991 |pmid= 1710450 |doi=
*cite journal | author=Sakamoto A, Yanagisawa M, Sakurai T, "et al." |title=Cloning and functional expression of human cDNA for the ETB endothelin receptor. |journal=Biochem. Biophys. Res. Commun. |volume=178 |issue= 2 |pages= 656–63 |year= 1991 |pmid= 1713452 |doi=
*cite journal | author=Vane J |title=Endothelins come home to roost. |journal=Nature |volume=348 |issue= 6303 |pages= 673 |year= 1991 |pmid= 2175394 |doi= 10.1038/348673a0
*cite journal | author=Puffenberger EG, Kauffman ER, Bolk S, "et al." |title=Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. |journal=Hum. Mol. Genet. |volume=3 |issue= 8 |pages= 1217–25 |year= 1995 |pmid= 7987295 |doi=
*cite journal | author=Puffenberger EG, Hosoda K, Washington SS, "et al." |title=A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. |journal=Cell |volume=79 |issue= 7 |pages= 1257–66 |year= 1995 |pmid= 8001158 |doi=
*cite journal | author=Baynash AG, Hosoda K, Giaid A, "et al." |title=Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. |journal=Cell |volume=79 |issue= 7 |pages= 1277–85 |year= 1995 |pmid= 8001160 |doi=
*cite journal | author=Arai H, Nakao K, Takaya K, "et al." |title=The human endothelin-B receptor gene. Structural organization and chromosomal assignment. |journal=J. Biol. Chem. |volume=268 |issue= 5 |pages= 3463–70 |year= 1993 |pmid= 8429023 |doi=
*cite journal | author=Elshourbagy NA, Korman DR, Wu HL, "et al." |title=Molecular characterization and regulation of the human endothelin receptors. |journal=J. Biol. Chem. |volume=268 |issue= 6 |pages= 3873–9 |year= 1993 |pmid= 8440682 |doi=
*cite journal | author=Hofstra RM, Osinga J, Tan-Sindhunata G, "et al." |title=A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). |journal=Nat. Genet. |volume=12 |issue= 4 |pages= 445–7 |year= 1996 |pmid= 8630503 |doi= 10.1038/ng0496-445
*cite journal | author=Attié T, Till M, Pelet A, "et al." |title=Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. |journal=Hum. Mol. Genet. |volume=4 |issue= 12 |pages= 2407–9 |year= 1996 |pmid= 8634719 |doi=
*cite journal | author=Elshourbagy NA, Adamou JE, Gagnon AW, "et al." |title=Molecular characterization of a novel human endothelin receptor splice variant. |journal=J. Biol. Chem. |volume=271 |issue= 41 |pages= 25300–7 |year= 1996 |pmid= 8810293 |doi=
*cite journal | author=Kusafuka T, Wang Y, Puri P |title=Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. |journal=Hum. Mol. Genet. |volume=5 |issue= 3 |pages= 347–9 |year= 1997 |pmid= 8852658 |doi=
*cite journal | author=Auricchio A, Casari G, Staiano A, Ballabio A |title=Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. |journal=Hum. Mol. Genet. |volume=5 |issue= 3 |pages= 351–4 |year= 1997 |pmid= 8852659 |doi=
*cite journal | author=Amiel J, Attié T, Jan D, "et al." |title=Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. |journal=Hum. Mol. Genet. |volume=5 |issue= 3 |pages= 355–7 |year= 1997 |pmid= 8852660 |doi=
*cite journal | author=Freedman NJ, Ament AS, Oppermann M, "et al." |title=Phosphorylation and desensitization of human endothelin A and B receptors. Evidence for G protein-coupled receptor kinase specificity. |journal=J. Biol. Chem. |volume=272 |issue= 28 |pages= 17734–43 |year= 1997 |pmid= 9211925 |doi=

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