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Gene Ontology Classifications
Symbol
Name
ID
Ednrb
endothelin receptor type B
MGI:102720

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Ednrb. (This text reflects annotations as of Thursday, January 16, 2014.)
Summary from NCBI RefSeq


This gene encodes a member of the G-protein coupled receptor family. It encodes a receptor for endothelins, peptides that are involved in vasocontriction. The encoded protein activates a phosphatidylinositol-calcium second messenger system and is required for the development of enteric neurons and melanocytes. Gene disruption causes pigmentation anomalies, deafness, and abnormal dilation of the colon due to defects of neural crest-derived cells. Mutations in this gene are found in the piebald mouse, and mouse models of Hirschsprung's disease and Waardenburg syndrome type 4. Renal collecting duct-specific gene deletion causes sodium retention and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Kapur RP et al. (1995) Intercellular signals downstream of endothelin receptor-B mediate colonization of the large intestine by enteric neuroblasts. Development, 121:3787-95. (PubMed:8582288)
  2. Kuwaki T et al. (1999) Endothelin in the central control of cardiovascular and respiratory functions. Clin Exp Pharmacol Physiol, 26:989-94. (PubMed:10626068)
  3. Laghmani K et al. (2001) Endothelin-1/endothelin-B receptor-mediated increases in NHE3 activity in chronic metabolic acidosis. J Clin Invest, 107:1563-9. (PubMed:11413164)
  4. Liu B et al. (2003) The first inner loop of endothelin receptor type B is necessary for specific coupling to galpha 13. J Biol Chem, 278:2384-7. (PubMed:12441350)
  5. Moore KJ et al. (1990) Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics, 125:421-30. (PubMed:2379821)
  6. Reid K et al. (1996) Multiple roles for endothelin in melanocyte development: regulation of progenitor number and stimulation of differentiation. Development, 122:3911-9. (PubMed:9012511)
  7. Shin MK et al. (1999) The temporal requirement for endothelin receptor-B signalling during neural crest development. Nature, 402:496-501. (PubMed:10591209)
  8. Van Raamsdonk CD et al. (2004) Effects of G-protein mutations on skin color. Nat Genet, 36:961-8. (PubMed:15322542)
  9. Wu JJ et al. (1999) Inhibition of in vitro enteric neuronal development by endothelin-3: mediation by endothelin B receptors. Development, 126:1161-73. (PubMed:10021336)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/01/2014
MGI 5.18
The Jackson Laboratory