Gene Gene information from NCBI Gene database.
Entrez ID 1906
Gene name Endothelin 1
Gene symbol EDN1
Synonyms (NCBI Gene)
ARCND3ET1HDLCQ7PPET1QME
Chromosome 6
Chromosome location 6p24.1
Summary This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatme
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs587777231 A>G Pathogenic Missense variant, coding sequence variant
rs587777232 C>A Pathogenic Missense variant, coding sequence variant
rs587777233 T>A Pathogenic Missense variant, coding sequence variant
rs587777234 T>G Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
387
miRTarBase ID miRNA Experiments Reference
MIRT004455 hsa-miR-155-5p Luciferase reporter assay 19783678
MIRT005432 hsa-miR-199a-5p Luciferase reporter assay 19783678
MIRT006855 hsa-miR-1-3p Luciferase reporter assay 22963810
MIRT006855 hsa-miR-1-3p Luciferase reporter assay 22963810
MIRT022267 hsa-miR-124-3p Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
Transcription factor Regulation Reference
FOXO1 Unknown 19887561
HIF1A Activation 19783678
JUN Unknown 12208352
NFKB1 Unknown 21334436
NR1H4 Repression 16357303
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
183
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 19767294
GO:0000165 Process MAPK cascade IEA
GO:0001501 Process Skeletal system development IEA
GO:0001569 Process Branching involved in blood vessel morphogenesis IEA
GO:0001666 Process Response to hypoxia IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
131240 3176 ENSG00000078401
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05305
Protein name Endothelin-1 (Preproendothelin-1) (PPET1) [Cleaved into: Endothelin-1 (ET-1); Big endothelin-1]
Protein function Endothelins are endothelium-derived vasoconstrictor peptides (By similarity). Probable ligand for G-protein coupled receptors EDNRA and EDNRB which activates PTK2B, BCAR1, BCAR3 and, GTPases RAP1 and RHOA cascade in glomerular mesangial cells (P
PDB 1EDN , 1EDP , 1T7H , 1V6R , 5GLH , 6DK5 , 8HCQ , 8HCX , 8IY5 , 8IY6 , 8XGR , 8XVE , 8XVH , 8XVI , 8XWP , 8XWQ , 8ZRT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00322 Endothelin 49 77 Endothelin family Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. {ECO:0000269|PubMed:9284755}.
Sequence
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGGEKPTPSPPWRLRRSKRCSCSSLMD
KECVYFCHLDIIWVNTP
EHVVPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCW
NFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQLVRGRKIRRSSEEHLRQTRSE
TMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW
Sequence length 212
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
78
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Auriculocondylar syndrome 3 Pathogenic rs587777231, rs587777232 RCV000106312
RCV000106313
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Question mark ears, isolated Pathogenic rs587777233, rs587777234 RCV000106314
RCV000106315
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARRHYTHMIAS, CARDIAC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS OF AORTA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ablepharon macrostomia syndrome Ablepharon macrostomia syndrome Pubtator 35468098 Associate
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke CTD_human_DG 20083630
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 24035903, 28038820, 28712433, 28942357
★☆☆☆☆
Found in Text Mining only
Acute Inflammatory Demyelinating Polyneuropathy Inflammatory Demyelinating Polyneuropathy BEFREE 29137897
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 9788586
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 31089142
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 11746273
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11711511, 7504041, 7721442
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 7504041
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 11078430, 12193050, 15702240, 9322959
★☆☆☆☆
Found in Text Mining only