EDN3

Name

endothelin 3

Type

protein-coding

Position

59,300,415–59,325,992 (+)

Aliases

ET-3, ET3, HSCR4, PPET3, WS4B

Ensembl

ENSG00000124205

RefSeq RNA

NM_000114.2, NM_001302455.2, NM_001302456.2, NM_001424361.1, NM_001424362.1

RefSeq protein

NP_001289384.1, NP_001289385.1, NP_001411290.1, NP_001411291.1, NP_001411292.1

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].

via MyGene.info

Gene · Ensembl

endothelin 3

Symbol

EDN3

Biotype

Protein coding

Organism

Homo sapiens

Location

20:59,300,213-59,325,992

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

via Wikidata · CC0