InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EDN3

Summary

InnateDB Protein

IDBP-83428.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EDN3

Protein Name

endothelin 3

Synonyms

ET-3; ET3; HSCR4; PPET3; WS4B;

Species

Homo sapiens

Ensembl Protein

ENSP00000360067

InnateDB Gene

IDBG-83422 (EDN3)

Protein Structure

UniProt Annotation

Function

Endothelins are endothelium-derived vasoconstrictor peptides.

Subcellular Localization

Secreted.

Disease Associations

Hirschsprung disease 4 (HSCR4) [MIM:613712]: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. {ECO:0000269PubMed:9359047}. Note=The disease is caused by mutations affecting the gene represented in this entry.Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: 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. {ECO:0000269PubMed:8696331}. Note=The disease is caused by mutations affecting the gene represented in this entry.Waardenburg syndrome 4B (WS4B) [MIM:613265]: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). {ECO:0000269PubMed:11303518, ECO:0000269PubMed:12189494, ECO:0000269PubMed:8630503}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells. {ECO:0000269PubMed:9284755}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005179	hormone activity

Biological Process

GO:0002690	positive regulation of leukocyte chemotaxis
GO:0003100	regulation of systemic arterial blood pressure by endothelin
GO:0007165	signal transduction
GO:0007166	cell surface receptor signaling pathway
GO:0007267	cell-cell signaling
GO:0007275	multicellular organismal development
GO:0008015	blood circulation
GO:0010460	positive regulation of heart rate
GO:0014826	vein smooth muscle contraction
GO:0019229	regulation of vasoconstriction
GO:0030072	peptide hormone secretion
GO:0030593	neutrophil chemotaxis
GO:0042310	vasoconstriction
GO:0043406	positive regulation of MAP kinase activity
GO:0045840	positive regulation of mitosis
GO:0046887	positive regulation of hormone secretion
GO:0048016	inositol phosphate-mediated signaling