EDN3
entrez
1908
canonical
uniprot
P14138
canonical
ensembl
ENSG00000124205
resolver
ensp
ENSP00000311854
resolver
ensp
ENSP00000337128
resolver
ensp
ENSP00000360064
resolver
ensp
ENSP00000379015
resolver
ensp
ENSP00000537114
resolver
ensp
ENSP00000537115
resolver
ensp
ENSP00000644190
resolver
ensp
ENSP00000644191
resolver
enst
ENST00000371025
resolver
genesymbol
EDN3
resolver
hgnc
HGNC:3178
resolver
uniprot
E1P5I5
resolver
uniprot
F8W8K2
resolver
uniprot
Q03229
resolver
uniprot
Q4FAT2
resolver
uniprot
Q7Z6D2
resolver
uniprot
Q9UGT7
resolver
uniprot_entry
EDN3_HUMAN
resolver
uniprot_entry
F8W8K2_HUMAN
resolver
uniprot_entry
Q4FAT2_HUMAN
resolver
uniprot_sec
E1P5I5
resolver
uniprot_sec
Q03229
resolver
uniprot_sec
Q7Z6D2
resolver
uniprot_sec
Q9UGT7
resolver
amino_acid_sequence
MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEGDCEETVAGPGEETVAGPGEGTVAPTALQGPSPGSPGQEQAAEGAPEHHRSRRCTCFTYKDKECVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGKRSAGPLPGNLQLSHRPHLRCACVGRYDKACLHFCTQTLDVSSNSRTAEKTDKEEEGKVEVKDQQSKQALDLHHPKLMPGSGLALAPSTCPRCLFQEGAP
uniprot
proteins
disease_involvement
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 variants 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Endothelins are endothelium-derived vasoconstrictor peptides.
uniprot
proteins
mass_dalton
25454
uniprot
proteins
protein_family
Endothelin/sarafotoxin family
uniprot
proteins
pubmed
10438732
uniprot
proteins
pubmed
11303518
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12189494
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1610811
uniprot
proteins
pubmed
2178974
uniprot
proteins
pubmed
2509452
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
8630503
uniprot
proteins
pubmed
9284755
uniprot
proteins
pubmed
9359036
uniprot
proteins
pubmed
9359047
uniprot
proteins
sequence_length
238
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins