Endothelin 3

Endothelin-3 is a protein that in humans is encoded by the EDN3 gene.

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) Band 20q13.32 Start 59,300,443 bp End 59,325,992 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 H4|2 98.1 cM Start 174,602,412 bp End 174,625,835 bp
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
Wikidata
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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.

Further reading

• Calderone RA (1994). "Molecular interactions at the interface of Candida albicans and host cells". Arch. Med. Res. 24 (3): 275–9. PMID 8298278.
• Hofstra RM, Osinga J, Buys CH (1998). "Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype". Eur. J. Hum. Genet. 5 (4): 180–5. doi:10.1159/000484760. PMID 9359036.
• Parisi MA, Kapur RP (2001). "Genetics of Hirschsprung disease". Curr. Opin. Pediatr. 12 (6): 610–7. doi:10.1097/00008480-200012000-00017. PMID 11106284. S2CID 12573027.
• O'Reilly G, Charnock-Jones DS, Davenport AP, et al. (1993). "Presence of messenger ribonucleic acid for endothelin-1, endothelin-2, and endothelin-3 in human endometrium and a change in the ratio of ETA and ETB receptor subtype across the menstrual cycle". J. Clin. Endocrinol. Metab. 75 (6): 1545–9. doi:10.1210/jcem.75.6.1464662. PMID 1464662.
• Mills RG, O'Donoghue SI, Smith R, King GF (1992). "Solution structure of endothelin-3 determined using NMR spectroscopy". Biochemistry. 31 (24): 5640–5. doi:10.1021/bi00139a030. PMID 1610811.
• Rao VV, Löffler C, Hansmann I (1991). "The gene for the novel vasoactive peptide endothelin 3 (EDN3) is localized to human chromosome 20q13.2-qter". Genomics. 10 (3): 840–1. doi:10.1016/0888-7543(91)90472-Q. PMID 1889823.
• Arinami T, Ishikawa M, Inoue A, et al. (1991). "Chromosomal assignments of the human endothelin family genes: the endothelin-1 gene (EDN1) to 6p23-p24, the endothelin-2 gene (EDN2) to 1p34, and the endothelin-3 gene (EDN3) to 20q13.2-q13.3". Am. J. Hum. Genet. 48 (5): 990–6. PMC 1683044. PMID 2018043.
• Onda H, Ohkubo S, Ogi K, et al. (1990). "One of the endothelin gene family, endothelin 3 gene, is expressed in the placenta". FEBS Lett. 261 (2): 327–30. doi:10.1016/0014-5793(90)80583-5. PMID 2178974. S2CID 37516374.
• Lees WE, Kalinka S, Meech J, et al. (1990). "Generation of human endothelin by cathepsin E.". FEBS Lett. 273 (1–2): 99–102. doi:10.1016/0014-5793(90)81060-2. PMID 2226872. S2CID 43466635.
• Bloch KD, Eddy RL, Shows TB, Quertermous T (1989). "cDNA cloning and chromosomal assignment of the gene encoding endothelin 3". J. Biol. Chem. 264 (30): 18156–61. doi:10.1016/S0021-9258(19)84690-2. PMID 2509452.
• Inoue A, Yanagisawa M, Kimura S, et al. (1989). "The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes". Proc. Natl. Acad. Sci. U.S.A. 86 (8): 2863–7. Bibcode:1989PNAS...86.2863I. doi:10.1073/pnas.86.8.2863. PMC 287019. PMID 2649896.
• Yu JC, Davenport AP (1995). "Secretion of endothelin-1 and endothelin-3 by human cultured vascular smooth muscle cells". Br. J. Pharmacol. 114 (2): 551–7. doi:10.1111/j.1476-5381.1995.tb13262.x. PMC 1510231. PMID 7881755.
• Baynash AG, Hosoda K, Giaid A, et al. (1995). "Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons". Cell. 79 (7): 1277–85. doi:10.1016/0092-8674(94)90018-3. PMID 8001160. S2CID 32577813.
• Edery P, Attié T, Amiel J, et al. (1996). "Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)". Nat. Genet. 12 (4): 442–4. doi:10.1038/ng0496-442. PMID 8630502. S2CID 19637835.
• Hofstra RM, Osinga J, Tan-Sindhunata G, et al. (1996). "A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)". Nat. Genet. 12 (4): 445–7. doi:10.1038/ng0496-445. hdl:1765/54507. PMID 8630503. S2CID 935271.
• Lahav R, Ziller C, Dupin E, Le Douarin NM (1996). "Endothelin 3 promotes neural crest cell proliferation and mediates a vast increase in melanocyte number in culture". Proc. Natl. Acad. Sci. U.S.A. 93 (9): 3892–7. Bibcode:1996PNAS...93.3892L. doi:10.1073/pnas.93.9.3892. PMC 39455. PMID 8632985.
• Bolk S, Angrist M, Xie J, et al. (1996). "Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome". Nat. Genet. 13 (4): 395–6. doi:10.1038/ng0896-395. PMID 8696331. S2CID 1129547.
• Nakano A, Kishi F, Minami K, et al. (1997). "Selective conversion of big endothelins to tracheal smooth muscle-constricting 31-amino acid-length endothelins by chymase from human mast cells". J. Immunol. 159 (4): 1987–92. doi:10.4049/jimmunol.159.4.1987. PMID 9257865.
• Bourgeois C, Robert B, Rebourcet R, et al. (1997). "Endothelin-1 and ETA receptor expression in vascular smooth muscle cells from human placenta: a new ETA receptor messenger ribonucleic acid is generated by alternative splicing of exon 3". J. Clin. Endocrinol. Metab. 82 (9): 3116–23. doi:10.1210/jcem.82.9.4209. PMID 9284755.
• Wiesmann F, Veeck J, Galm O, et al. (2009). "Frequent loss of endothelin-3 (EDN3) expression due to epigenetic inactivation in human breast cancer". Breast Cancer Res. 11 (3): R34. doi:10.1186/bcr2319. PMC 2716502. PMID 19527488.