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Aliases for EDN3 Gene

Aliases for EDN3 Gene

  • Endothelin 3 2 3 5
  • Preproendothelin-3 3 4
  • PPET3 3 4
  • ET-3 3 4
  • Endothelin-3 3
  • HSCR4 3
  • WS4B 3
  • ET3 3

External Ids for EDN3 Gene

Previous GeneCards Identifiers for EDN3 Gene

  • GC20P057603
  • GC20P058513
  • GC20P058560
  • GC20P057308
  • GC20P057875
  • GC20P054663

Summaries for EDN3 Gene

Entrez Gene Summary for EDN3 Gene

  • 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]

GeneCards Summary for EDN3 Gene

EDN3 (Endothelin 3) is a Protein Coding gene. Diseases associated with EDN3 include Waardenburg Syndrome, Type 4B and Hirschsprung Disease 4. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and hormone activity. An important paralog of this gene is EDN1.

UniProtKB/Swiss-Prot for EDN3 Gene

  • Endothelins are endothelium-derived vasoconstrictor peptides.

Tocris Summary for EDN3 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 EDN3 Gene

Additional gene information for EDN3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDN3 Gene

Genomics for EDN3 Gene

GeneHancer (GH) Regulatory Elements for EDN3 Gene

Promoters and enhancers for EDN3 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
GH20J059299 Promoter/Enhancer 1.1 EPDnew ENCODE 650.7 -0.2 -183 1.2 ESRRA SUZ12 FOXA1 SP1 CTBP1 GATA3 MTA1 FOS EZH2 EDN3 ZNF831
GH20J059252 Enhancer 0.9 Ensembl ENCODE 10.3 -46.6 -46613 1.7 SIX4 CTCF PKNOX1 ESRRA MAX SIN3A CTBP1 GATA3 POLR2A RCOR1 EDN3 GNAS-AS1 GNAS ZNF831
GH20J059333 Enhancer 0.5 ENCODE 11.5 +34.2 34243 2.2 LCORL NFIC POLR2A NFIB CREB1 ATF7 ATF2 EDN3 ENSG00000225129
GH20J059320 Enhancer 0.4 ENCODE 12 +20.6 20561 1.3 RARA GABPA CHD2 EDN3 ENSG00000225129
GH20J059268 Enhancer 0.4 ENCODE 11.3 -31.4 -31401 0.5 NANOG SIN3A CTBP2 EDN3 ZNF831
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EDN3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EDN3 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for EDN3 Gene

Genomic Locations for EDN3 Gene
25,569 bases
Plus strand
25,566 bases
Plus strand

Genomic View for EDN3 Gene

Genes around EDN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDN3 Gene

Proteins for EDN3 Gene

  • Protein details for EDN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • E1P5I5
    • Q03229
    • Q7Z6D2
    • Q9UGT7

    Protein attributes for EDN3 Gene

    238 amino acids
    Molecular mass:
    25454 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAR16083.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for EDN3 Gene


neXtProt entry for EDN3 Gene

Post-translational modifications for EDN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EDN3 Gene

Domains & Families for EDN3 Gene

Gene Families for EDN3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for EDN3 Gene

Suggested Antigen Peptide Sequences for EDN3 Gene

GenScript: Design optimal peptide antigens:

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 EDN3: view

Function for EDN3 Gene

Molecular function for EDN3 Gene

UniProtKB/Swiss-Prot Function:
Endothelins are endothelium-derived vasoconstrictor peptides.
GENATLAS Biochemistry:
endothelin 3 (vaso-constrictor/pressor peptide),murine lethal spotting homologous

LifeMap Function Summary for EDN3 Gene

EDN3 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for EDN3 Gene

Gene Ontology (GO) - Molecular Function for EDN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding TAS 8298278
GO:0005179 hormone activity IDA 2649896
GO:0031708 endothelin B receptor binding IPI 1713452
genes like me logo Genes that share ontologies with EDN3: view
genes like me logo Genes that share phenotypes with EDN3: view

Human Phenotype Ontology for EDN3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EDN3 Gene

MGI Knock Outs for EDN3:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EDN3 Gene

Localization for EDN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDN3 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 EDN3 gene
Compartment Confidence
extracellular 5
plasma membrane 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for EDN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 15691296
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with EDN3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EDN3 Gene

Pathways & Interactions for EDN3 Gene

genes like me logo Genes that share pathways with EDN3: view

Pathways by source for EDN3 Gene

SIGNOR curated interactions for EDN3 Gene


Gene Ontology (GO) - Biological Process for EDN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001755 neural crest cell migration IEA --
GO:0002690 positive regulation of leukocyte chemotaxis IDA 9696419
GO:0003100 regulation of systemic arterial blood pressure by endothelin IDA 2649896
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0007165 signal transduction TAS 8298278
genes like me logo Genes that share ontologies with EDN3: view

Drugs & Compounds for EDN3 Gene

(53) Drugs for EDN3 Gene - From: Tocris and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Endothelin 3 (human, rat) Pharma Potent vasoconstrictor 0
Sarafotoxin S6a Pharma Endothelin receptor agonist 0
Sarafotoxin S6b Pharma Full agonist, Agonist Endothelin receptor agonist; non-selective 0

(36) Additional Compounds for EDN3 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 EDN3 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 EDN3: view

Transcripts for EDN3 Gene

mRNA/cDNA for EDN3 Gene

Unigene Clusters for EDN3 Gene

Endothelin 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDN3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d
SP1: -
SP3: - -
SP4: - -

Relevant External Links for EDN3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EDN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EDN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EDN3 Gene

This gene is overexpressed in Vagina (x15.3) and Cervix - Ectocervix (x8.1).

Protein differential expression in normal tissues from HIPED for EDN3 Gene

This gene is overexpressed in Spleen (25.5) and Cardia (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EDN3 Gene

NURSA nuclear receptor signaling pathways regulating expression of EDN3 Gene:


SOURCE GeneReport for Unigene cluster for EDN3 Gene:


mRNA Expression by UniProt/SwissProt for EDN3 Gene:

Tissue specificity: Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells.

Evidence on tissue expression from TISSUES for EDN3 Gene

  • Muscle(4.5)
  • Lung(4.4)
  • Heart(2.6)
  • Nervous system(2.5)
  • Intestine(2.3)
  • Kidney(2.1)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EDN3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • mouth
  • nose
  • outer ear
  • pituitary gland
  • skull
  • breast
  • diaphragm
  • esophagus
  • heart
  • lung
  • duodenum
  • intestine
  • large intestine
  • small intestine
  • stomach
  • ovary
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vulva
  • lower limb
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with EDN3: view

No data available for Protein tissue co-expression partners for EDN3 Gene

Orthologs for EDN3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDN3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EDN3 34 33
  • 99.39 (n)
(Canis familiaris)
Mammalia EDN3 34 33
  • 79.57 (n)
(Mus musculus)
Mammalia Edn3 16 34 33
  • 76.1 (n)
(Rattus norvegicus)
Mammalia Edn3 33
  • 75.81 (n)
(Bos Taurus)
Mammalia EDN3 34 33
  • 72.9 (n)
(Monodelphis domestica)
Mammalia EDN3 34
  • 49 (a)
(Gallus gallus)
Aves EDN3 34 33
  • 58.08 (n)
(Anolis carolinensis)
Reptilia EDN3 34
  • 72 (a)
(Danio rerio)
Actinopterygii EDN3 (1 of 3) 34
  • 64 (a)
edn3b 34
  • 33 (a)
EDN3 (3 of 3) 34
  • 32 (a)
Species where no ortholog for EDN3 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EDN3 Gene

Gene Tree for EDN3 (if available)
Gene Tree for EDN3 (if available)
Evolutionary constrained regions (ECRs) for EDN3: view image

Paralogs for EDN3 Gene

Paralogs for EDN3 Gene

(2) SIMAP similar genes for EDN3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EDN3: view

Variants for EDN3 Gene

Sequence variations from dbSNP and Humsavar for EDN3 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1001385114 uncertain-significance, Hirschsprung Disease, Dominant, Waardenburg syndrome 59,300,454(+) T/A 5_prime_UTR_variant, non_coding_transcript_variant
rs1022389100 uncertain-significance, Waardenburg syndrome, Hirschsprung Disease, Dominant 59,300,728(+) G/A 5_prime_UTR_variant, non_coding_transcript_variant
rs11475273 uncertain-significance, Waardenburg syndrome, Hirschsprung Disease, Dominant 59,324,599(+) CCCCCCCCCC/CCCCCCCC/CCCCCCCCC 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs11570254 likely-benign, Hirschsprung Disease, Dominant, Waardenburg syndrome 59,300,736(+) T/A 5_prime_UTR_variant, non_coding_transcript_variant
rs11570255 risk-factor, uncertain-significance, benign, likely-benign, Hirschsprung disease 4, not specified, Hirschsprung Disease, Dominant 59,300,861(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EDN3 Gene

Variant ID Type Subtype PubMed ID
nsv3433 CNV insertion 18451855

Variation tolerance for EDN3 Gene

Residual Variation Intolerance Score: 38.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EDN3 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 EDN3 Gene

Disorders for EDN3 Gene

MalaCards: The human disease database

(18) MalaCards diseases for EDN3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
waardenburg syndrome, type 4b
  • waardenburg syndrome, type 4a
hirschsprung disease 4
  • hirschsprung disease, susceptibility to, 4
central hypoventilation syndrome, congenital
  • cchs
waardenburg's syndrome
  • waardenburg syndrome, type 4a
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search EDN3 in MalaCards View complete list of genes associated with diseases


  • 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 mutations affecting the gene represented in this entry.
  • Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: Rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. {ECO:0000269 PubMed:8696331}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for EDN3

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 EDN3: view

No data available for Genatlas for EDN3 Gene

Publications for EDN3 Gene

  1. Proteolytic processing of big endothelin-3 by the kell blood group protein. (PMID: 10438732) Lee S … Redman C (Blood 1999) 3 4 22 58
  2. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). (PMID: 8630503) Hofstra RM … Buys CH (Nature genetics 1996) 3 4 22 58
  3. EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity. (PMID: 20028935) Darrah R … Drumm ML (Physiological genomics 2010) 3 44 58
  4. A candidate gene study of obstructive sleep apnea in European Americans and African Americans. (PMID: 20538960) Larkin EK … Redline S (American journal of respiratory and critical care medicine 2010) 3 44 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for EDN3 Gene

Sources for EDN3 Gene

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