Endothelin 3

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Endothelin 3
Identifiers
Symbols EDN3 ; ET-3; ET3; HSCR4; PPET3; WS4B
External IDs OMIM131242 MGI95285 HomoloGene88 GeneCards: EDN3 Gene
RNA expression pattern
PBB GE EDN3 208399 s at tn.png
PBB GE EDN3 217154 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1908 13616
Ensembl ENSG00000124205 ENSMUSG00000027524
UniProt P14138 P48299
RefSeq (mRNA) NM_000114 NM_007903
RefSeq (protein) NP_000105 NP_031929
Location (UCSC) Chr 20:
57.88 – 57.9 Mb
Chr 2:
174.76 – 174.78 Mb
PubMed search [1] [2]

Endothelin-3 is a protein that in humans is encoded by the EDN3 gene.[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. Four alternatively spliced transcript variants encoding three distinct isoforms have been observed.[1]

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