EDN3 Chromosome 20
Endothelin 3
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What This Gene Does
The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
Endothelins
Locus Type
gene with protein product
Location
20q13.32
Ensembl
ENSG00000124205
Associated Conditions (7)
Hirschsprung disease
susceptibility to
4
Inborn genetic diseases
Waardenburg syndrome type 4B
EDN3-related disorder
Sensorineural hearing loss disorder
Key Variants
RS11570255
Conflicting classifications of pathogenicity
Hirschsprung disease, susceptibility to, 4
Health Risk
RS369429604
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS745795470
Likely pathogenic
Hirschsprung disease, susceptibility to, 4
Health Risk
RS977075341
Likely pathogenic
Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
Health Risk
RS1568823517
Pathogenic
Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
Health Risk
RS267606778
Pathogenic
Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
Health Risk
RS267606779
Pathogenic
Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
Health Risk
RS74315384
Pathogenic
Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
Health Risk
RS74315385
Pathogenic
Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
Health Risk
RS1568823467
risk factor
Hirschsprung disease, susceptibility to, 4
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11570255 | Health Risk | Conflicting classifications of pathogenicity | Hirschsprung disease, susceptibility to, 4 |
| RS369429604 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745795470 | Health Risk | Likely pathogenic | Hirschsprung disease, susceptibility to, 4 |
| RS977075341 | Health Risk | Likely pathogenic | Waardenburg syndrome type 4B, Waardenburg syndrome type 4B |
| RS1568823517 | Health Risk | Pathogenic | Waardenburg syndrome type 4B, Waardenburg syndrome type 4B |
| RS267606778 | Health Risk | Pathogenic | Waardenburg syndrome type 4B, Waardenburg syndrome type 4B |
| RS267606779 | Health Risk | Pathogenic | Waardenburg syndrome type 4B, Waardenburg syndrome type 4B |
| RS74315384 | Health Risk | Pathogenic | Waardenburg syndrome type 4B, Waardenburg syndrome type 4B |
| RS74315385 | Health Risk | Pathogenic | Waardenburg syndrome type 4B, Waardenburg syndrome type 4B |
| RS1568823467 | Health Risk | risk factor | Hirschsprung disease, susceptibility to, 4 |