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FLASH GENE
Symbol EDNRB contributors: shn/pgu - updated : 23-02-2010
HGNC name endothelin receptor type B
HGNC id 3180
ASSOCIATED DISORDERS
corresponding disease(s) HSCR2 , WS4A , ABCD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       loss of function
hypermethylated in cancer prostate, bladder, nasopharyngeal carcinoma(loss of function)
tumoral       gain of function
in clear cell renal carcinomas with good outcome
constitutional       gain of function
of EDNRB and AGTR1 in vascular smooth muscle cells in ischemic heart disease
Susceptibility
  • could be associated with glaucomatous pathologic abnormalities
  • associated with Lethal white foal syndrome (LWFS)
    • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • spotting lethal (sl) rats with a natural null mutation of the EDNRB gene exhibit aganglionic megacolon associated with white coat color
  • null allele of Ednrb results in homozygous mice that are predominantly white and die as juveniles from megacolon
  • endothelin-B receptor-deficient rats die shortly after birth due to congenital distal intestinal aganglionosis
  • dopamine--hydroxylase (DBH)-ET(B) transgene/ET(B)(sl/sl) rats are hypertensive because they lack the normal tonic inhibition of the renal epithelial sodium channel
  • mouse with spontaneous mutation of the endothelin-B receptor gene display Waardenburg syndrome type 4
  • ET-B receptor-deficient rats display an exaggerated lung vascular protein leak in normoxia, that hypoxia exacerbates that leak, and that this effect is in part attributable to an ET-mediated increase in lung VEGF content
  • EdnrB/Sox10 double mutants display more severe aganglionosis
  • Sox10-EdnrB interactions can influence development of the enteric nervous system in mouse models and could contribute to the epistatic network producing variation between patients with aganglionosis