Aliases for EDN3 Gene
External Ids for EDN3 Gene
Previous GeneCards Identifiers for EDN3 Gene
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]
GeneCards Summary for EDN3 Gene
EDN3 (Endothelin 3) is a Protein Coding gene. Diseases associated with EDN3 include Waardenburg Syndrome, Type 4B and Hirschsprung Disease 4. Among its related pathways are Peptide ligand-binding receptors and RET signaling. GO annotations related to this gene include receptor binding and hormone activity. An important paralog of this gene is EDN2.
UniProtKB/Swiss-Prot for EDN3 Gene
Endothelins are endothelium-derived vasoconstrictor peptides.
The endothelin family consists of highly potent vasoconstrictive peptides. Three endogenous isoforms are known to exist - ET-1, ET-2 and ET-3. Due to their physiological role as vasoactive peptides, endothelins have been linked to certain cardiac, vascular and renal diseases; endothelin antagonists may therefore play an important role in the treatment of these conditions. Two distinct endothelin receptors have so far been cloned in mammals, classified as ETA and ETB receptors.