Nomenclature | Genomic Location |
Symbol | Edn3 | Chromosome | 1 |
Name | Endothelin-3 | Linkage map | unknown |
Species | Dracomimus familiaris | Genome Coordinates | 1: 2 Mbp |
Molecular Function |
Endothelins are endothelium-derived vasoconstrictor peptides.
Molecular Function Terms:
binding
protein binding
receptor binding
G-protein-coupled receptor binding
neuropeptide receptor binding
hormone activity
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Human Disease Association |
Defects in EDN3 are the cause of Hirschsprung disease type 4 (HSCR4) [MIM:613712]; 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) [MIM:209880];
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) [MIM:613265]; 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).
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1 GTGCACCGCCGACCCAAACGCTGCACTTGCTACACCTACAAGGATAAGGAGTGTGTATAC
61 TACTGCCACTTGGACATCATCTGGATCAACACCCCAGAGAGGACTGTTCCATATGGGCTG
121 GCTAATTACAGAGGAAGTTTCAGAGGCAAAAGGTCTACAGAGCAGCATCGCAAGAGCTTG
181 CAGTCATCAAAATGGCCTTCGCTGCGCTGCTCCTGTGCAGAT
Predicted Protein Product |
VHRRPKRCTCYTYKDKECVYYCHLDIIWINTPERTVPYGLANYRGSFRGKRSTEQHRKSL
QSSKWPSLRCSCAD
Protein Alignment to Mouse |
p|P48299|EDN3_MOUSE Endothelin-3 OS=Mus musculus GN=Edn3 PE=2 SV=1
MGI:95285 Edn3 endothelin 3 (Chr 2)
Length = 214
Score = 304 (112.1 bits), Expect = 9.2e-28, P = 9.2e-28
Identities = 52/71 (73%), Positives = 58/71 (81%)
Query: 2 HRRPKRCTCYTYKDKECVYYCHLDIIWINTPERTVPYGLANYRGSFRGKRSTEQHRKSLQ 61
H RP+RCTC+TYKDKECVYYCHLDIIWINTPE+TVPYGL+NYR S RGKRS +S Q
Sbjct: 91 HHRPRRCTCFTYKDKECVYYCHLDIIWINTPEQTVPYGLSNYRESLRGKRSLGPVPESSQ 150
Query: 62 SSKWPSLRCSC 72
S W LRC+C
Sbjct: 151 PSPWTRLRCTC 161
Score = 55 (24.4 bits), Expect = 0.93, P = 0.61
Identities = 8/16 (50%), Positives = 10/16 (62%)
Query: 7 RCTCYTYKDKECVYYC 22
RCTC DK C ++C
Sbjct: 158 RCTCMGADDKACAHFC 173
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