Endothelin 3

Endothelin 3
Identifiers
Symbols	EDN3 ; ET3; MGC15067; MGC61498
External IDs	Template:OMIM5 Template:MGI HomoloGene: 88
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Endothelin 3, also known as EDN3, is a human 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.

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. PMID 9359036.CS1 maint: Multiple names: authors list (link)
• Parisi MA, Kapur RP (2001). "Genetics of Hirschsprung disease". Curr. Opin. Pediatr. 12 (6): 610–7. PMID 11106284.
• 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. PMID 1464662.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mills RG, O'Donoghue SI, Smith R, King GF (1992). "Solution structure of endothelin-3 determined using NMR spectroscopy". Biochemistry. 31 (24): 5640–5. PMID 1610811.CS1 maint: Multiple names: authors list (link)
• 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. PMID 1889823.CS1 maint: Multiple names: authors list (link)
• 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. PMID 2018043.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 2178974.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lees WE, Kalinka S, Meech J; et al. (1990). "Generation of human endothelin by cathepsin E.". FEBS Lett. 273 (1–2): 99–102. PMID 2226872.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 2509452.CS1 maint: Multiple names: authors list (link)
• 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. PMID 2649896.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. 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. PMID 8001160.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8630503.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8632985.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9257865.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9284755.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)