EDN3 (endothelin 3)

2008-08-01  

Identity

HGNC
LOCATION
20q13.32
LOCUSID
ALIAS
ET-3,ET3,HSCR4,PPET3,WS4B

Other Information

Locus ID:

NCBI: 1908
MIM: 131242
HGNC: 3178
Ensembl: ENSG00000124205

Variants:

dbSNP: 1908
ClinVar: 1908
TCGA: ENSG00000124205
COSMIC: EDN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124205ENST00000311585P14138
ENSG00000124205ENST00000337938P14138
ENSG00000124205ENST00000371025Q4FAT2
ENSG00000124205ENST00000371028P14138
ENSG00000124205ENST00000395654P14138
ENSG00000124205ENST00000644821A0A2R8Y214

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
205389602010A candidate gene study of obstructive sleep apnea in European Americans and African Americans.30
195274882009Frequent loss of endothelin-3 (EDN3) expression due to epigenetic inactivation in human breast cancer.21
200097622010New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.16
200097622010New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.16
228656322013Epigenetic inactivation of endothelin-2 and endothelin-3 in colon cancer.16
220130792011Autocrine endothelin-3/endothelin receptor B signaling maintains cellular and molecular properties of glioblastoma stem cells.13
200289352010EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
183464022008Endothelin-3 is produced by metastatic melanoma cells and promotes melanoma cell survival.8

Citation

Dessen P

EDN3 (endothelin 3)

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/gene/50297/edn3