EDN3

GENE INFORMATION

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Gene name

EDN3 (HGNC Symbol)

Synonyms

ET3

Description

Endothelin 3 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Chromosome

20

Cytoband

q13.32

Chromosome location (bp)

59300427 - 59325992

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000124205 (version 78.38)

Entrez gene

1908

UniProt

P14138 (UniProt - Evidence at protein level)

neXtProt

NX_P14138

Antibodypedia

EDN3 antibodies
 

PROTEIN VIEW

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EDN3-001
 
EDN3-002
 
EDN3-003
 
EDN3-004
 
EDN3-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EDN3-001 ENSP00000337128
ENST00000337938
P14138
Show all »
Show » Show » 238 25.5 Yes 0
EDN3-002 ENSP00000311854
ENST00000311585
P14138
Show all »
Show » Show » 219 23.6 Yes 0
EDN3-003 ENSP00000379015
ENST00000395654
P14138
Show all »
Show » Show » 224 23.9 Yes 0
EDN3-004 ENSP00000360064
ENST00000371025
Q4FAT2
Show all »
Show » Show » 192 20.6 Yes 0
EDN3-201 ENSP00000360067
ENST00000371028
P14138
Show all »
Show » Show » 238 25.5 Yes 0