Entity Details

Primary name EDN3
Entity type gene
Source Source Link

Details

PrimaryID1908
RefseqGeneNG_008050
SymbolEDN3
Nameendothelin 3
Chromosome20
Location20q13.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEDN3_HUMAN

GO terms

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GOName
GO:0001755 neural crest cell migration
GO:0002690 positive regulation of leukocyte chemotaxis
GO:0003100 regulation of systemic arterial blood pressure by endothelin
GO:0005102 signaling receptor binding
GO:0005179 hormone activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0006874 cellular calcium ion homeostasis
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0008015 blood circulation
GO:0008284 positive regulation of cell population proliferation
GO:0010460 positive regulation of heart rate
GO:0010468 regulation of gene expression
GO:0010961 cellular magnesium ion homeostasis
GO:0014826 vein smooth muscle contraction
GO:0019229 regulation of vasoconstriction
GO:0030072 peptide hormone secretion
GO:0030182 neuron differentiation
GO:0030318 melanocyte differentiation
GO:0030593 neutrophil chemotaxis
GO:0031708 endothelin B receptor binding
GO:0042310 vasoconstriction
GO:0043406 positive regulation of MAP kinase activity
GO:0045597 positive regulation of cell differentiation
GO:0045840 positive regulation of mitotic nuclear division
GO:0046887 positive regulation of hormone secretion
GO:0048016 inositol phosphate-mediated signaling
GO:0048070 regulation of developmental pigmentation
GO:0060585 positive regulation of prostaglandin-endoperoxide synthase activity
GO:1901381 positive regulation of potassium ion transmembrane transport

Diseases

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Disease IDSourceNameDescription
613712 OMIMHirschsprung disease 4 (HSCR4)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. The disease is caused by variants affecting the gene represented in this entry.
209880 OMIMCongenital central hypoventilation syndrome (CCHS)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. The disease is caused by variants affecting the gene represented in this entry.
613265 OMIMWaardenburg syndrome 4B (WS4B)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). The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions