Endothelin 3

Endothelin-3 is a protein that in humans is encoded by the EDN3 gene.^[5]

Quick Facts EDN3, Identifiers ...

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)[1] Band 20q13.32 Start 59,300,443 bp[1] End 59,325,992 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H4|2 98.1 cM Start 174,602,412 bp[2] End 174,625,835 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 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: 174.6 – 174.63 Mb PubMed search [3] [4]
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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]