EDN3
Identifiers
AliasesEDN3, ET-3, ET3, HSCR4, PPET3, WS4B, endothelin 3
External IDsOMIM: 131242 MGI: 95285 HomoloGene: 88 GeneCards: EDN3
Orthologs
SpeciesHumanMouse
Entrez

1908

13616

Ensembl

ENSG00000124205

ENSMUSG00000027524

UniProt

P14138

P48299

RefSeq (mRNA)

NM_007903

RefSeq (protein)

NP_001289384
NP_001289385
NP_996915
NP_996916
NP_996917

NP_031929

Location (UCSC)Chr 20: 59.3 – 59.33 MbChr 2: 174.6 – 174.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Endothelin-3 is a protein that in humans is encoded by the EDN3 gene.[5]

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. Four alternatively spliced transcript variants encoding three distinct isoforms have been observed.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000124205 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027524 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: EDN3 endothelin 3".

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.