The EDN3 gene homepage

General information
Gene symbol EDN3
Gene name endothelin 3
Chromosome 20
Chromosomal band q13.2-q13.3
Imprinted Unknown
Genomic reference NG_008050.1
Transcript reference NM_000114.2, NM_207034.1
Exon/intron information NM_000114.2 exon/intron table, NM_207034.1 exon/intron table
Associated with diseases HSCR4, WS4B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Veronique Pingault
Total number of public variants reported 39
Unique public DNA variants reported 31
Individuals with public variants 34
Hidden variants 2
Download all this gene's data Download all data
Notes Initiated as Waardenburg syndrome gene variant databases by Veronique Pingault.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created October 05, 2009
Date last updated January 11, 2023
Version EDN3:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000114.2, NM_207034.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 3178
Entrez Gene 1908
PubMed articles EDN3
OMIM - Gene 131242
OMIM - Diseases HSCR4 (Hirschsprung disease, type 4 (HSCR-4))
WS4B (Waardenburg syndrome, type 4B (WS4B))
GeneCards EDN3
GeneTests EDN3
Orphanet EDN3

Active transcripts




NCBI ID     

NCBI Protein ID     

00006873 20 transcript variant 1 NM_000114.2 NP_000105.1 39
00025776 20 transcript variant 4 NM_207034.1 NP_996917.1 10

Copyright & disclaimer
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