Endothelin receptor type B

Endothelin receptor type B
Identifiers
Symbols	EDNRB ; ABCDS; ETB; ETRB; HSCR; HSCR2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 89
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

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.

See also

• Endothelin receptor

Further reading

• Hofstra RM, Osinga J, Buys CH (1998). "Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype". Eur. J. Hum. Genet. 5 (4): 180–5. PMID 9359036.CS1 maint: Multiple names: authors list (link)
• Haendler B, Hechler U, Schleuning WD (1993). "Molecular cloning of human endothelin (ET) receptors ETA and ETB". J. Cardiovasc. Pharmacol. 20 Suppl 12: S1–4. PMID 1282938.CS1 maint: Multiple names: authors list (link)
• Arai H, Nakao K, Hosoda K; et al. (1993). "[Molecular cloning of human endothelin receptors and their expression in vascular endothelial cells and smooth muscle cells]". Jpn. Circ. J. 56 Suppl 5: 1303–7. PMID 1291713.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ogawa Y, Nakao K, Arai H; et al. (1991). "Molecular cloning of a non-isopeptide-selective human endothelin receptor". Biochem. Biophys. Res. Commun. 178 (1): 248–55. PMID 1648908.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cyr C, Huebner K, Druck T, Kris R (1992). "Cloning and chromosomal localization of a human endothelin ETA receptor". Biochem. Biophys. Res. Commun. 181 (1): 184–90. PMID 1659806.CS1 maint: Multiple names: authors list (link)
• Nakamuta M, Takayanagi R, Sakai Y; et al. (1991). "Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor". Biochem. Biophys. Res. Commun. 177 (1): 34–9. PMID 1710450.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sakamoto A, Yanagisawa M, Sakurai T; et al. (1991). "Cloning and functional expression of human cDNA for the ETB endothelin receptor". Biochem. Biophys. Res. Commun. 178 (2): 656–63. PMID 1713452.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vane J (1991). "Endothelins come home to roost". Nature. 348 (6303): 673. doi:10.1038/348673a0. PMID 2175394.
• Puffenberger EG, Kauffman ER, Bolk S; et al. (1995). "Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22". Hum. Mol. Genet. 3 (8): 1217–25. PMID 7987295.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Puffenberger EG, Hosoda K, Washington SS; et al. (1995). "A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease". Cell. 79 (7): 1257–66. PMID 8001158.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Baynash AG, Hosoda K, Giaid A; et al. (1995). "Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons". Cell. 79 (7): 1277–85. PMID 8001160.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Arai H, Nakao K, Takaya K; et al. (1993). "The human endothelin-B receptor gene. Structural organization and chromosomal assignment". J. Biol. Chem. 268 (5): 3463–70. PMID 8429023.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Elshourbagy NA, Korman DR, Wu HL; et al. (1993). "Molecular characterization and regulation of the human endothelin receptors". J. Biol. Chem. 268 (6): 3873–9. PMID 8440682.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hofstra RM, Osinga J, Tan-Sindhunata G; et al. (1996). "A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)". Nat. Genet. 12 (4): 445–7. doi:10.1038/ng0496-445. PMID 8630503.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Attié T, Till M, Pelet A; et al. (1996). "Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease". Hum. Mol. Genet. 4 (12): 2407–9. PMID 8634719.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Elshourbagy NA, Adamou JE, Gagnon AW; et al. (1996). "Molecular characterization of a novel human endothelin receptor splice variant". J. Biol. Chem. 271 (41): 25300–7. PMID 8810293.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kusafuka T, Wang Y, Puri P (1997). "Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease". Hum. Mol. Genet. 5 (3): 347–9. PMID 8852658.CS1 maint: Multiple names: authors list (link)
• Auricchio A, Casari G, Staiano A, Ballabio A (1997). "Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population". Hum. Mol. Genet. 5 (3): 351–4. PMID 8852659.CS1 maint: Multiple names: authors list (link)
• Amiel J, Attié T, Jan D; et al. (1997). "Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease". Hum. Mol. Genet. 5 (3): 355–7. PMID 8852660.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Freedman NJ, Ament AS, Oppermann M; et al. (1997). "Phosphorylation and desensitization of human endothelin A and B receptors. Evidence for G protein-coupled receptor kinase specificity". J. Biol. Chem. 272 (28): 17734–43. PMID 9211925.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.