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EDN3
Identifiers
Aliases	EDN3, ET-3, ET3, HSCR4, PPET3, WS4B, endothelin 3
External IDs	OMIM: 131242; MGI: 95285; HomoloGene: 88; GeneCards: EDN3; OMA:EDN3 - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	59,325,992 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	174,625,835 bp
RNA expression pattern
	Top expressed in
	human penis; ; jejunal mucosa; ; gonad; ; islet of Langerhans; ; duodenum; ; vulva; ; mucosa of ileum; ; rectum; ; parotid gland; ; testicle;
	Top expressed in
	iris; ; genital tubercle; ; cecum; ; left lung lobe; ; lumbar subsegment of spinal cord; ; intestinal villus; ; jejunum; ; embryo; ; pineal gland; ; duodenum;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	hormone activity; endothelin B receptor binding; signaling receptor binding;
Cellular component	extracellular region; intracellular anatomical structure; extracellular space;
Biological process	positive regulation of MAP kinase activity; regulation of systemic arterial blood pressure by endothelin; vasoconstriction; cell-cell signaling; blood circulation; neutrophil chemotaxis; positive regulation of heart rate; multicellular organism development; positive regulation of leukocyte chemotaxis; cell surface receptor signaling pathway; vein smooth muscle contraction; regulation of vasoconstriction; peptide hormone secretion; positive regulation of cell differentiation; artery smooth muscle contraction; regulation of gene expression; inositol phosphate-mediated signaling; positive regulation of mitotic nuclear division; positive regulation of hormone secretion; signal transduction; regulation of signaling receptor activity; G protein-coupled receptor signaling pathway; neural crest cell migration; cellular calcium ion homeostasis; positive regulation of cell population proliferation; cellular magnesium ion homeostasis; neuron differentiation; melanocyte differentiation; regulation of cell migration; regulation of developmental pigmentation; positive regulation of potassium ion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	1908
	13616
	ENSG00000124205
	ENSMUSG00000027524
	P14138
	P48299
NM_000114; NM_207032; NM_207033; NM_207034; NM_001302455;
	NM_001302456
	NM_007903
	NP_001289384; NP_001289385; NP_996915; NP_996916; NP_996917
	NP_031929
	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]