EDNRB Chromosome 13
Endothelin receptor type B
Upload your DNA to see your personal genotypes for variants in EDNRB.
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 |
|---|---|---|---|
| RS104894387 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS1050929 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS12720203 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS139317762 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS1566304640 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, Aganglionosis, total intestinal |
| RS1801710 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS199927859 | Health Risk | Conflicting classifications of pathogenicity | Waardenburg syndrome, Waardenburg syndrome type 4A, EDNRB-related disorder |
| RS2070591 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS2228271 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2501607972 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375637651 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS5346 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS5350 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS5352 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS62637639 | Health Risk | Conflicting classifications of pathogenicity | EDNRB-related disorder, EDNRB-related disorder |
| RS77132068 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS781214034 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, Aganglionosis, total intestinal |
| RS886050325 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS936183003 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 2 |
| RS1064797177 | Health Risk | Likely pathogenic | Hearing impairment, Hearing impairment |
| RS1555290401 | Health Risk | Likely pathogenic | — |
| RS1555290659 | Health Risk | Likely pathogenic | Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS1555292048 | Health Risk | Likely pathogenic | — |
| RS1879091616 | Health Risk | Likely pathogenic | EDNRB-related disorder, EDNRB-related disorder |
| RS1879929102 | Health Risk | Likely pathogenic | — |
| RS2137610838 | Health Risk | Likely pathogenic | Waardenburg syndrome type 4A, EDNRB-related disorder, Waardenburg syndrome type 4A |
| RS2137610842 | Health Risk | Likely pathogenic | Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS2137610942 | Health Risk | Likely pathogenic | Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS2137611873 | Health Risk | Likely pathogenic | — |
| RS2137639179 | Health Risk | Likely pathogenic | — |
| RS2501530183 | Health Risk | Likely pathogenic | Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS2501610771 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS104894388 | Health Risk | Pathogenic | Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS104894391 | Health Risk | Pathogenic | ABCD syndrome, Waardenburg syndrome type 4A, ABCD syndrome |
| RS1064797178 | Health Risk | Pathogenic | — |
| RS1308510231 | Health Risk | Pathogenic | — |
| RS1399198786 | Health Risk | Pathogenic | — |
| RS1458799604 | Health Risk | Pathogenic | Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS2137603199 | Health Risk | Pathogenic | — |
| RS2501534802 | Health Risk | Pathogenic | — |
| RS2501608750 | Health Risk | Pathogenic | Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS2501609661 | Health Risk | Pathogenic | — |
| RS2501611645 | Health Risk | Pathogenic | — |
| RS370187673 | Health Risk | Pathogenic | — |
| RS876657688 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS104894390 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS1879111145 | Health Risk | Pathogenic/Likely pathogenic | Hirschsprung disease, susceptibility to, 2 |
| RS2501526238 | Health Risk | Pathogenic/Likely pathogenic | EDNRB-related disorder, Waardenburg syndrome type 4A, EDNRB-related disorder |
| RS762023761 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS768126403 | Health Risk | Pathogenic/Likely pathogenic | Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |