P14138.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
23,596 Da
NCBI Official Full Name
Endothelin-3
NCBI Official Synonym Full Names
endothelin 3
NCBI Protein Information
endothelin-3; preproendothelin-3
UniProt Protein Name
Endothelin-3
UniProt Synonym Protein Names
Preproendothelin-3; PPET3
UniProt Synonym Gene Names
UniProt Entry Name
EDN3_HUMAN
NCBI Summary for EDN3
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. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
UniProt Comments for EDN3
EDN3: Endothelins are endothelium-derived vasoconstrictor peptides. Defects in EDN3 are the cause of Hirschsprung disease type 4 (HSCR4); also known as aganglionic megacolon (MGC). A genetic disorder of neural crest development characterized by the absence of intramural ganglion cells in the hindgut; often resulting in intestinal obstruction. Defects in EDN3 are a cause of congenital central hypoventilation syndrome (CCHS); also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Defects in EDN3 are a cause of Waardenburg syndrome type 4 (WS4B); also known as Waardenburg-Shah syndrome. WS4B is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Belongs to the endothelin/sarafotoxin family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 20q13.2-q13.3
Cellular Component: extracellular space; extracellular region
Molecular Function: hormone activity; receptor binding
Biological Process: regulation of systemic arterial blood pressure by endothelin; blood circulation; multicellular organismal development; positive regulation of leukocyte chemotaxis; vein smooth muscle contraction; signal transduction; neuron differentiation; positive regulation of MAP kinase activity; cell surface receptor linked signal transduction; cell-cell signaling; melanocyte differentiation; positive regulation of cell proliferation; neural crest cell migration; artery smooth muscle contraction; neutrophil chemotaxis; vasoconstriction; inositol phosphate-mediated signaling; positive regulation of mitosis; positive regulation of hormone secretion; positive regulation of heart rate; peptide hormone secretion; cellular calcium ion homeostasis; regulation of gene expression; regulation of vasoconstriction; regulation of pigmentation during development; positive regulation of cell differentiation
Disease: Hirschsprung Disease, Susceptibility To, 4; Waardenburg Syndrome, Type 4b; Central Hypoventilation Syndrome, Congenital
Research Articles on EDN3
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Products associated with anti-EDN3 antibody
Pathways associated with anti-EDN3 antibody
Diseases associated with anti-EDN3 antibody
Organs/Tissues associated with anti-EDN3 antibody
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