EDN3

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]

Full Name

Endothelin 3

Research Area

Endothelins are endothelium-derived vasoconstrictor peptides.

Biological Process

Blood circulation Source: ProtInc
Cell-cell signaling Source: ProtInc
Cell surface receptor signaling pathway Source: BHF-UCL
Cellular calcium ion homeostasis Source: GO_Central
Cellular magnesium ion homeostasis Source: Ensembl
Inositol phosphate-mediated signaling Source: BHF-UCL
Melanocyte differentiation Source: Ensembl
Multicellular organism development Source: ProtInc
Neural crest cell migration Source: Ensembl
Neuron differentiation Source: Ensembl
Neutrophil chemotaxis Source: BHF-UCL
Peptide hormone secretion Source: BHF-UCL
Positive regulation of cell differentiation Source: MGI
Positive regulation of cell population proliferation Source: MGI
Positive regulation of heart rate Source: BHF-UCL
Positive regulation of hormone secretion Source: BHF-UCL
Positive regulation of leukocyte chemotaxis Source: BHF-UCL
Positive regulation of MAP kinase activity Source: BHF-UCL
Positive regulation of mitotic nuclear division Source: BHF-UCL
Positive regulation of potassium ion transmembrane transport Source: Ensembl
Positive regulation of prostaglandin-endoperoxide synthase activity Source: GO_Central
Regulation of developmental pigmentation Source: Ensembl
Regulation of gene expression Source: MGI
Regulation of systemic arterial blood pressure by endothelin Source: BHF-UCL
Regulation of vasoconstriction Source: InterPro
Signal transduction Source: ProtInc
Vasoconstriction Source: BHF-UCL
Vein smooth muscle contraction Source: BHF-UCL

Cellular Location

Secreted

Involvement in disease

Hirschsprung disease 4 (HSCR4):
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Congenital central hypoventilation syndrome (CCHS):
Rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.
Waardenburg syndrome 4B (WS4B):
A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).