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MGP000908

UniProt Annotations

Entry Information

Gene Name	endothelin 3
Protein Entry	EDN3_HUMAN
UniProt ID	P14138
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=Long; IsoId=P14138-1; Sequence=Displayed; Name=Short; IsoId=P14138-2; Sequence=VSP_001445; Name=3; IsoId=P14138-3; Sequence=VSP_043139;
Disease	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:0000269\|PubMed:8696331}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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:0000269\|PubMed:9359047}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	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:0000269\|PubMed:11303518, ECO:0000269\|PubMed:12189494, ECO:0000269\|PubMed:8630503}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Endothelins are endothelium-derived vasoconstrictor peptides.
Sequence Caution	Sequence=AAR16083.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Belongs to the endothelin/sarafotoxin family. {ECO:0000305}.
Subcellular Location	Secreted.
Tissue Specificity	Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells. {ECO:0000269\|PubMed:9284755}.
Web Resource	Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/edn3/";