Endothelin 3

EDN3
Identifiers
Aliases	EDN3, ET-3, ET3, HSCR4, PPET3, WS4B, endothelin 3
External IDs	MGI: 95285 HomoloGene: 88 GeneCards: EDN3
Gene ontology Molecular function • hormone activity • endothelin B receptor binding • receptor binding Cellular component • extracellular region • intracellular • cell • extracellular space Biological process • cellular magnesium ion homeostasis • regulation of blood vessel size • regulation of cell migration • positive regulation of MAP kinase activity • regulation of systemic arterial blood pressure by endothelin • vasoconstriction • cell-cell signaling • cellular calcium ion homeostasis • 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 • neural crest cell migration • neuron differentiation • positive regulation of cell proliferation • positive regulation of cell differentiation • positive regulation of potassium ion transmembrane transport • artery smooth muscle contraction • regulation of gene expression • regulation of developmental pigmentation • melanocyte differentiation • inositol phosphate-mediated signaling • positive regulation of mitotic nuclear division • positive regulation of hormone secretion • signal transduction Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1908	13616
Ensembl	ENSG00000124205	ENSMUSG00000027524
UniProt	P14138	P48299
RefSeq (mRNA)	NM_000114 NM_207032 NM_207033 NM_207034 NM_001302455 NM_001302456	NM_007903
RefSeq (protein)	NP_001289384 NP_001289385 NP_996915 NP_996916 NP_996917	NP_031929
Location (UCSC)	Chr 20: 59.3 – 59.33 Mb	Chr 2: 174.76 – 174.78 Mb
PubMed search

1908

13616

ENSG00000124205

ENSMUSG00000027524

P14138

P48299

NM_001302456

NM_007903

NP_001289384
NP_001289385
NP_996915
NP_996916
NP_996917

NP_031929

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

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