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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Endothelin receptor type B

Introduction

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.[1]

See also

See also

References

References

  1. ↑ “Entrez Gene: EDNRB endothelin receptor type B”.
Further reading

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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

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

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