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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for EDN3 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1908
Official gene symbolEDN3
Full nameendothelin 3
Aliases,ET3,HSCR4,MGC15067,MGC61498,WS4B,
Gene summaryThe 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. [provided by RefSeq]
LocationChromosome: 20   Locus: 20q13.2-q13.3
Gene position57875499 - 57901047  Map Viewer
Gene orientationplus
Gene size25549 bp
Gene sequence
OMIM ID131242