Endothelin 3

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EDN3
Identifiers
Aliases EDN3, ET-3, ET3, HSCR4, PPET3, WS4B, endothelin 3
External IDs MGI: 95285 HomoloGene: 88 GeneCards: EDN3
Gene location (Human)
Chromosome 20 (human)
Chr. Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for EDN3
Genomic location for EDN3
Band 20q13.32 Start 59,300,427 bp[1]
End 59,325,992 bp[1]
RNA expression pattern
PBB GE EDN3 208399 s at fs.png

PBB GE EDN3 217154 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 Mb Chr 20: 174.76 – 174.78 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

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