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Protein Page:
EDN3 (human)

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. Note: This description may include information from UniProtKB.
Protein type: Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 20q13.2-q13.3
Cellular Component: extracellular space; cell; extracellular region; intracellular
Molecular Function: hormone activity; endothelin B receptor binding; 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; positive regulation of cell proliferation; melanocyte differentiation; 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
Reference #:  P14138 (UniProtKB)
Alt. Names/Synonyms: EDN3; endothelin 3; Endothelin-3; ET-3; ET3; HSCR4; MGC15067; MGC61498; PPET3; Preproendothelin-3; truncated endothelin 3; WS4B
Gene Symbols: EDN3
Molecular weight: 25,454 Da
Basal Isoelectric point: 6.24  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  

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LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.



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