Home Search Reports Help

Gene Model: Edn3

NomenclatureGenomic Location
SymbolEdn3Chromosome1
NameEndothelin-3Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates1: 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

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).

Predicted Transcript
     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