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Aliases for EDN1 Gene

Aliases for EDN1 Gene

  • Endothelin 1 2 3 5
  • Preproendothelin-1 3 4
  • PPET1 3 4
  • Endothelin-1 3
  • ARCND3 3
  • HDLCQ7 3
  • ET1 3
  • QME 3

External Ids for EDN1 Gene

Previous GeneCards Identifiers for EDN1 Gene

  • GC06P012348
  • GC06P012398

Summaries for EDN1 Gene

Entrez Gene Summary for EDN1 Gene

  • 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 treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

GeneCards Summary for EDN1 Gene

EDN1 (Endothelin 1) is a Protein Coding gene. Diseases associated with EDN1 include Question Mark Ears, Isolated and Auriculocondylar Syndrome 3. Among its related pathways are IL-1 Family Signaling Pathways and EGFR Transactivation by Gastrin. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and hormone activity. An important paralog of this gene is EDN3.

UniProtKB/Swiss-Prot for EDN1 Gene

  • Endothelins are endothelium-derived vasoconstrictor peptides.

Tocris Summary for EDN1 Gene

  • The endothelin family consists of highly potent vasoconstrictive peptides. Three endogenous isoforms are known to exist - ET-1, ET-2 and ET-3. Due to their physiological role as vasoactive peptides, endothelins have been linked to certain cardiac, vascular and renal diseases; endothelin antagonists may therefore play an important role in the treatment of these conditions. Two distinct endothelin receptors have so far been cloned in mammals, classified as ETA and ETB receptors.

Gene Wiki entry for EDN1 Gene

Additional gene information for EDN1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDN1 Gene

Genomics for EDN1 Gene

GeneHancer (GH) Regulatory Elements for EDN1 Gene

Promoters and enhancers for EDN1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J012287 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.3 +32.0 32000 12.2 NEUROD1 SIN3A FEZF1 IRF4 ZNF48 TCF12 ARID2 ZNF143 ATF7 FOS EDN1 RN7SKP293 ENSG00000272379 SUMO2P12
GH06J012259 Enhancer 0.9 ENCODE dbSUPER 650.7 +0.6 613 4.5 PKNOX1 ARNT MZF1 ZNF384 FEZF1 BRCA1 CTBP1 EED ZSCAN5C KLF7 EDN1 SUMO2P12
GH06J012601 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 13.4 +341.6 341637 2.1 CTCF IRF2 EBF1 RAD21 ZKSCAN1 ZNF335 GATA3 ZNF143 SMC3 PRDM10 EDN1 LINC02530 GC06P012572 PHACTR1
GH06J012322 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +63.1 63135 3.8 FOXA2 ARID4B NEUROD1 BRCA1 SLC30A9 ELK1 FOS SP5 MIER2 REST EDN1 RN7SKP293 SUMO2P12 LOC105374931
GH06J012362 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +103.7 103717 5.3 SIN3A ZNF48 YY1 ZNF207 ATF7 ZNF548 RUNX3 RXRA JUNB REST HIVEP1 EDN1 RN7SKP293 LOC105374931 SUMO2P12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EDN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EDN1 gene promoter:
  • NF-kappaB
  • p53
  • NF-kappaB1
  • Nkx2-5
  • GATA-6
  • FOXI1

Genomic Locations for EDN1 Gene

Genomic Locations for EDN1 Gene
35,981 bases
Plus strand
6,899 bases
Plus strand

Genomic View for EDN1 Gene

Genes around EDN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDN1 Gene

Proteins for EDN1 Gene

  • Protein details for EDN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q96DA1

    Protein attributes for EDN1 Gene

    212 amino acids
    Molecular mass:
    24425 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for EDN1 Gene

neXtProt entry for EDN1 Gene

Post-translational modifications for EDN1 Gene

  • Glycosylation at Thr100
  • Modification sites at PhosphoSitePlus

Other Protein References for EDN1 Gene

Antibody Products

Assay Products

No data available for DME Specific Peptides for EDN1 Gene

Domains & Families for EDN1 Gene

Gene Families for EDN1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for EDN1 Gene

Suggested Antigen Peptide Sequences for EDN1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the endothelin/sarafotoxin family.
  • Belongs to the endothelin/sarafotoxin family.
genes like me logo Genes that share domains with EDN1: view

Function for EDN1 Gene

Molecular function for EDN1 Gene

UniProtKB/Swiss-Prot Function:
Endothelins are endothelium-derived vasoconstrictor peptides.
GENATLAS Biochemistry:
endothelin 1 (vaso-constrictor/pressor peptide),phospholipase C activator,interacting with I16 for induced expression of fetal genes in cardiac myocytes

LifeMap Function Summary for EDN1 Gene

During embryonic development, EDN1 as signaling molecule is secreted from the following cells

Phenotypes From GWAS Catalog for EDN1 Gene

Gene Ontology (GO) - Molecular Function for EDN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005125 cytokine activity IDA 19767294
GO:0005179 hormone activity IDA 2649896
GO:0005515 protein binding IPI 23597562
GO:0031707 endothelin A receptor binding IDA 10770212
genes like me logo Genes that share ontologies with EDN1: view
genes like me logo Genes that share phenotypes with EDN1: view

Human Phenotype Ontology for EDN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EDN1 Gene

MGI Knock Outs for EDN1:

Animal Model Products

miRNA for EDN1 Gene

miRTarBase miRNAs that target EDN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EDN1 Gene

Localization for EDN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDN1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EDN1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
nucleus 3
cytosol 3
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EDN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IDA 10770212
GO:0005737 cytoplasm IDA 12379507
GO:0030133 transport vesicle TAS --
GO:0033093 Weibel-Palade body IEA --
genes like me logo Genes that share ontologies with EDN1: view

Pathways & Interactions for EDN1 Gene

genes like me logo Genes that share pathways with EDN1: view

SIGNOR curated interactions for EDN1 Gene


Gene Ontology (GO) - Biological Process for EDN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 19767294
GO:0001501 skeletal system development IEA --
GO:0001516 prostaglandin biosynthetic process IDA 9492062
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001666 response to hypoxia IEA --
genes like me logo Genes that share ontologies with EDN1: view

Drugs & Compounds for EDN1 Gene

(97) Drugs for EDN1 Gene - From: DrugBank, PharmGKB, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nitric Oxide Approved Pharma 643
Atenolol Approved Pharma Antagonist 108
Bevacizumab Approved, Investigational Pharma VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 2087
Irbesartan Approved, Investigational Pharma Antagonist Angiotensin II inhibitor 102
TBC-3711 Investigational Pharma Target 0

(51) Additional Compounds for EDN1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Endothelin 1 (human, porcine)
Endothelin 2 (human)

(5) Tocris Compounds for EDN1 Gene

Compound Action Cas Number
Endothelin 1 (human, porcine) Potent vasoconstrictor peptide 117399-94-7
Endothelin 2 (human) ETA/ETB agonist 123562-20-9
Endothelin 3 (human, rat) Potent vasoconstrictor 117399-93-6
Sarafotoxin S6a Endothelin receptor agonist 126738-34-9
Sarafotoxin S6b Endothelin receptor agonist; non-selective 116303-65-2
genes like me logo Genes that share compounds with EDN1: view

Transcripts for EDN1 Gene

mRNA/cDNA for EDN1 Gene

(6) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EDN1 Gene

Endothelin 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5
SP1: -
SP2: -

Relevant External Links for EDN1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EDN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EDN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EDN1 Gene

This gene is overexpressed in Adipose - Subcutaneous (x4.1).

Protein differential expression in normal tissues from HIPED for EDN1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EDN1 Gene

Protein tissue co-expression partners for EDN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EDN1 Gene:


SOURCE GeneReport for Unigene cluster for EDN1 Gene:


mRNA Expression by UniProt/SwissProt for EDN1 Gene:

Tissue specificity: Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells.

Evidence on tissue expression from TISSUES for EDN1 Gene

  • Pancreas(4.3)
  • Heart(3.7)
  • Nervous system(3.7)
  • Muscle(3.6)
  • Blood(3.4)
  • Lung(3.4)
  • Kidney(3.2)
  • Liver(2.7)
  • Skin(2.6)
  • Adrenal gland(2.4)
  • Intestine(2.3)
  • Stomach(2.2)
  • Eye(2.1)
  • Urine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EDN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
  • lung
  • trachea
  • skin
genes like me logo Genes that share expression patterns with EDN1: view

Orthologs for EDN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EDN1 34 33
  • 98.26 (n)
(Canis familiaris)
Mammalia EDN1 34 33
  • 83.17 (n)
(Bos Taurus)
Mammalia EDN1 34 33
  • 83 (n)
(Rattus norvegicus)
Mammalia Edn1 33
  • 79.5 (n)
(Mus musculus)
Mammalia Edn1 16 34 33
  • 79.17 (n)
(Monodelphis domestica)
Mammalia EDN1 34
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia EDN1 34
  • 53 (a)
(Gallus gallus)
Aves EDN1 34 33
  • 61.26 (n)
(Anolis carolinensis)
Reptilia EDN1 34
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia edn1 33
  • 55.05 (n)
(Danio rerio)
Actinopterygii edn1 34 33
  • 53.06 (n)
Species where no ortholog for EDN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EDN1 Gene

Gene Tree for EDN1 (if available)
Gene Tree for EDN1 (if available)
Evolutionary constrained regions (ECRs) for EDN1: view image

Paralogs for EDN1 Gene

Paralogs for EDN1 Gene

(1) SIMAP similar genes for EDN1 Gene using alignment to 2 proteins:

  • Q6FH53_HUMAN
genes like me logo Genes that share paralogs with EDN1: view

Variants for EDN1 Gene

Sequence variations from dbSNP and Humsavar for EDN1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs5370 association, High density lipoprotein cholesterol level quantitative trait locus 7 12,296,022(+) G/T coding_sequence_variant, missense_variant
rs587777231 pathogenic, Auriculocondylar syndrome 3, Auriculocondylar syndrome 3 (ARCND3) [MIM:615706] 12,293,978(+) A/G coding_sequence_variant, missense_variant
rs587777232 pathogenic, Auriculocondylar syndrome 3, Auriculocondylar syndrome 3 (ARCND3) [MIM:615706] 12,292,506(+) C/A coding_sequence_variant, missense_variant
rs587777233 pathogenic, Question mark ears, isolated, Question mark ears, isolated (QME) [MIM:612798] 12,292,467(+) T/A coding_sequence_variant, missense_variant
rs587777234 pathogenic, Question mark ears, isolated 12,293,956(+) T/G coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for EDN1 Gene

Variant ID Type Subtype PubMed ID
nsv508394 CNV deletion 20534489
nsv509117 CNV insertion 20534489
nsv830586 CNV gain 17160897

Variation tolerance for EDN1 Gene

Residual Variation Intolerance Score: 63.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.42; 71.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EDN1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDN1 Gene

Disorders for EDN1 Gene

MalaCards: The human disease database

(96) MalaCards diseases for EDN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
question mark ears, isolated
  • qme
auriculocondylar syndrome 3
  • arcnd3
auriculo-condylar syndrome
  • auriculocondylar syndrome
raynaud phenomenon
  • raynaud disease
renal hypertension
  • hypertension renal
- elite association - COSMIC cancer census association via MalaCards
Search EDN1 in MalaCards View complete list of genes associated with diseases


  • Question mark ears, isolated (QME) [MIM:612798]: An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. {ECO:0000269 PubMed:24268655}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Auriculocondylar syndrome 3 (ARCND3) [MIM:615706]: A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. {ECO:0000269 PubMed:24268655}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EDN1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EDN1: view

No data available for Genatlas for EDN1 Gene

Publications for EDN1 Gene

  1. Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease. (PMID: 18288492) Wiltshire S … Beilby JP (Human genetics 2008) 3 4 44 58
  2. Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. (PMID: 17357073) Pare G … Gaudet D (American journal of human genetics 2007) 3 4 44 58
  3. Evaluation of the Lys198Asn and -134delA genetic polymorphisms of the endothelin-1 gene. (PMID: 15198485) Tanaka C … Miyata T (Hypertension research : official journal of the Japanese Society of Hypertension 2004) 3 22 44 58
  4. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. (PMID: 24268655) Gordon CT … Amiel J (American journal of human genetics 2013) 3 4 58
  5. Positive association between two polymorphic sites (+134 insA/delA and G198T) of the endothelin-1 gene and chronic obstructive pulmonary disease. A case-control study. (PMID: 19640695) Sampsonas F … Siafakas N (Respiratory medicine 2010) 3 44 58

Products for EDN1 Gene

Sources for EDN1 Gene