Endothelin receptor type B

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Endothelin receptor type B
Identifiers
SymbolsEDNRB; ABCDS; ETB; ETRB; HSCR; HSCR2
External IDsOMIM: 131244 MGI: 102720 HomoloGene: 89 IUPHAR: ETB GeneCards: EDNRB Gene
RNA expression pattern
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More reference expression data
Orthologs
SpeciesHumanMouse
Entrez191013618
EnsemblENSG00000136160ENSMUSG00000022122
UniProtP24530Q8K1V9
RefSeq (mRNA)NM_000115NM_007904
RefSeq (protein)NP_000106NP_031930
Location (UCSC)Chr 13:
77.37 - 77.39 Mb		Chr 14:
102.7 - 102.73 Mb
PubMed search[1][2]

Endothelin receptor type B, also known as ETB is a protein that in humans is encoded by the EDNRB gene.[1]

Function

Endothelin receptor type B 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. 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.[2]

Regulation

In melanocytic cells the EDNRB gene is regulated by the microphthalmia-associated transcription factor. Mutations in either gene are links to Waardenburg syndrome.[3][4]

Clinical signficance

The multigenic disorder, Hirschsprung disease type 2, is due to mutation in endothelin receptor type B gene.[5]

In horses, a mutation in the middle of the EDNRB gene, Ile118Lys, when homozygous, causes Lethal White Syndrome.[6] In this mutation, a "typo" in the DNA mistakes isoleucine for lysine.[6] The resulting EDNRB protein is unable to fulfill its role in the development of the embryo, limiting the migration of the melanocyte and enteric neuron precursors. A single copy of the EDNRB mutation, the heterozygous state, produces an identifiable and completely benign spotted coat color called frame overo.[7]

Interactions

Endothelin receptor type B has been shown to interact with Caveolin 1.[8]

See also

References

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External links

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. doi:10.1016/0006-291X(91)91806-N. 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. doi:10.1016/S0006-291X(05)81399-3. 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. doi:10.1016/0006-291X(91)91944-8. 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. doi:10.1016/0006-291X(91)90158-4. 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. doi:10.1093/hmg/3.8.1217. 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. doi:10.1016/0092-8674(94)90016-7. 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. doi:10.1016/0092-8674(94)90018-3. 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. doi:10.1093/hmg/4.12.2407. 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. doi:10.1074/jbc.271.41.25300. 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. doi:10.1093/hmg/5.3.347. 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. doi:10.1093/hmg/5.3.351. 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. doi:10.1093/hmg/5.3.355. 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. doi:10.1074/jbc.272.28.17734. PMID 9211925. 

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

40x30px This transmembrane receptor-related article is a stub. You can help ssf by expanding it.
Class A: Rhodopsin like
α1 (A, B, D) · α2 (A, B, C) · β1 · β2 · β3
Adenosine (A1, A2A, A2B, A3) · P2Y (1, 2, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14)
(all but 5-HT3) 5-HT1 (A, B, D, E, F) · 5-HT2 (A, B, C) · 5-HT (4, 5A, 6, 7)
Other
Acetylcholine (M1, M2, M3, M4, M5) · Dopamine (D1, D2, D3, D4, D5) · Histamine (H1, H2, H3, H4) · Melatonin (1A, 1B, 1C) · TAAR (1, 2, 3, 5, 6, 8, 9)
Metabolites and
signaling molecules
CysLT (1, 2) · LTB4 (1, 2) · FPRL1 · OXE · Prostaglandin (DP (1, 2), EP (1, 2, 3, 4), FP) · Prostacyclin · Thromboxane
Other
Bile acid · Cannabinoid (CB1, CB2, GPR (18, 55, 119)) · EBI2 · Estrogen · Free fatty acid (1, 2, 3, 4) · Lactate  · Lysophosphatidic acid (1, 2, 3, 4, 5, 6)  · Lysophospholipid (1, 2, 3, 4, 5, 6, 7, 8) · Niacin (1, 2) · Oxoglutarate · PAF · Sphingosine-1-phosphate (1, 2, 3, 4, 5) · Succinate
Peptide
B/W (1, 2) · FF (1, 2) · S · Y (1, 2, 4, 5) · Neuromedin (B, U (1, 2)) · Neurotensin (1, 2)
Other
Miscellaneous
GPR (1, 3, 4, 6, 12, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 27, 31, 32, 33, 34, 35, 37, 39, 42, 44, 45, 50, 52, 55, 61, 62, 63, 65, 68, 75, 77, 78, 81, 82, 83, 84, 85, 87, 88, 92, 101, 103, 109A, 109B, 119, 120, 132, 135, 137B, 139, 141, 142, 146, 148, 149, 150, 151, 152, 153, 160, 161, 162, 171, 173, 174, 176, 177, 182, 183)
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Class B: Secretin like
GPR (56, 64, 97, 98, 110, 111, 112, 113, 114, 115, 116, 123, 124, 125, 126, 128, 133, 143, 144, 155, 157)
Other
Class C: Metabotropic
glutamate / pheromone
TAS1R (1, 2, 3) · TAS2R (1, 3, 4, 5, 8, 9, 10, 12, 13, 14, 16, 19, 20, 30, 31, 38, 39, 40, 41, 42, 43, 45, 46, 50)
Other
Class F:
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Frizzled
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  1. ↑ Lua error in package.lua at line 80: module 'Module:Citation/CS1/Suggestions' not found.
  2. ↑ "Entrez Gene: EDNRB endothelin receptor type B". 
  3. ↑ Sato-Jin K, Nishimura EK, Akasaka E; et al. (2008). "Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders". FASEB J. 22 (4): 1155–68. doi:10.1096/fj.07-9080com. PMID 18039926. 
  4. ↑ Lua error in package.lua at line 80: module 'Module:Citation/CS1/Suggestions' not found.
  5. ↑ Lua error in package.lua at line 80: module 'Module:Citation/CS1/Suggestions' not found.
  6. ↑ 6.0 6.1 Lua error in package.lua at line 80: module 'Module:Citation/CS1/Suggestions' not found.
  7. ↑ Metallinos DL, Bowling AT, Rine J (1998). "In three unrelated lethal white foals, the EDNRB gene contained a 2-bp nucleotide change leading to a missense mutation (I118K) in the first transmembrane domain of the receptor, a highly conserved region of this protein among different species. Seven additional unrelated lethal white foal samples were found to be homozygous for this mutation. No other homozygotes were identified in 138 samples analyzed, suggesting that homozygosity was restricted to lethal white foals. All (40/40) horses with the frame overo pattern (a distinct coat color pattern that is a subset of overo horses) that were tested were heterozygous for this allele, defining a heterozygous coat color phenotype for this mutation."
  8. ↑ Lua error in package.lua at line 80: module 'Module:Citation/CS1/Suggestions' not found.
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