EDNRB Chromosome 13
Endothelin receptor type B
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What This Gene Does
The protein encoded by this gene 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. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
Endothelin receptors
Locus Type
gene with protein product
Location
13q22.3
Ensembl
ENSG00000136160
Associated Conditions (19)
Hirschsprung disease
susceptibility to
2
Waardenburg syndrome type 4A
EDNRB-related disorder
Hearing impairment
Aganglionosis
total intestinal
Inborn genetic diseases
Waardenburg syndrome
Waardenburg syndrome type 2A
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type)
autosomal dominant
ABCD syndrome
Hearing loss
autosomal recessive
Rare genetic deafness
Melanoma
Monogenic hearing loss
Key Variants
RS104894387
Conflicting classifications of pathogenicity
Hirschsprung disease, susceptibility to, 2
Health Risk
RS1050929
Conflicting classifications of pathogenicity
Hirschsprung disease, susceptibility to, 2
Health Risk
RS12720203
Conflicting classifications of pathogenicity
Hirschsprung disease, susceptibility to, 2
Health Risk
RS139317762
Conflicting classifications of pathogenicity
Hirschsprung disease, susceptibility to, 2
Health Risk
RS1566304640
Conflicting classifications of pathogenicity
Hearing impairment, Aganglionosis, total intestinal
Health Risk
RS1801710
Conflicting classifications of pathogenicity
Hirschsprung disease, susceptibility to, 2
Health Risk
RS199927859
Conflicting classifications of pathogenicity
Waardenburg syndrome, Waardenburg syndrome type 4A, EDNRB-related disorder
Health Risk
RS2070591
Conflicting classifications of pathogenicity
Hirschsprung disease, susceptibility to, 2
Health Risk
RS2228271
Conflicting classifications of pathogenicity
Health Risk
RS2501607972
Conflicting classifications of pathogenicity
Health Risk
RS375637651
Conflicting classifications of pathogenicity
Hirschsprung disease, susceptibility to, 2
Health Risk
RS5346
Conflicting classifications of pathogenicity
Hirschsprung disease, susceptibility to, 2
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894389 | Health Risk | risk factor | Hirschsprung disease, susceptibility to, 2 |
| RS267606780 | Health Risk | risk factor | Hirschsprung disease, susceptibility to, 2 |
| RS769735757 | Health Risk | risk factor | Hirschsprung disease, susceptibility to, 2 |