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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 Endothelins. GO annotations related to this gene include 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

Regulatory Elements for EDN3 Gene

Enhancers for EDN3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H059252 1 Ensembl ENCODE 10.3 -46.6 -46613 1.7 SIX4 CTCF PKNOX1 ESRRA SIN3A MAX CTBP1 GATA3 POLR2A FOS EDN3 GNAS-AS1 GNAS ZNF831
GH20H059333 0.6 ENCODE 11.5 +34.2 34244 2.2 NFIC LCORL POLR2A NFIB CREB1 ATF7 ATF2 EDN3 ENSG00000225129
GH20H059451 0.5 ENCODE 10.5 +152.6 152645 3.6 ZNF316 ZIC2 MAFK EDN3 CTSZ PIEZO1P1 ENSG00000230352
GH20H059320 0.4 ENCODE 12 +20.6 20561 1.3 RARA EDN3 ENSG00000225129
GH20H059268 0.4 ENCODE 11.2 -31.4 -31401 0.5 CTBP2 EDN3 ZNF831
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EDN3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EDN3 Gene

Genomic Locations for EDN3 Gene
25,569 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

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

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

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 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:

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
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 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 --
GO:0005623 cell 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: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(36) Additional Compounds for EDN3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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

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, PaxDb, 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 33 34
  • 99.39 (n)
(Canis familiaris)
Mammalia EDN3 33 34
  • 79.57 (n)
(Mus musculus)
Mammalia Edn3 33 16 34
  • 76.1 (n)
(Rattus norvegicus)
Mammalia Edn3 33
  • 75.81 (n)
(Bos Taurus)
Mammalia EDN3 33 34
  • 72.9 (n)
(Monodelphis domestica)
Mammalia EDN3 34
  • 49 (a)
(Gallus gallus)
Aves EDN3 33 34
  • 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)

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 Sequence Context AA Info Type
rs11570351 other, Hirschsprung disease 4 (HSCR4) [MIM:613712] 59,324,412(+) CCCTC(A/G)CTCCA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs74315384 Pathogenic, Waardenburg syndrome 4B (WS4B) [MIM:613265] 59,321,127(+) GCGCT(G/T)CGCTT nc-transcript-variant, reference, missense
rs752400458 Waardenburg syndrome 4B (WS4B) [MIM:613265] 59,321,031(+) GCCCT(A/G)TGGAC nc-transcript-variant, reference, missense
rs267606778 Pathogenic 59,301,692(+) TTGCC(A/G)CCTGG nc-transcript-variant, reference, missense
rs267606779 Pathogenic 59,301,634(+) ACCAC(C/G)GATCC nc-transcript-variant, reference, missense

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)

Relevant External Links for EDN3 Gene

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

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, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
waardenburg syndrome, type 4b
  • waardenburg syndrome, type 4a
hirschsprung disease 4
  • hscr4
central hypoventilation syndrome, congenital
  • central hypoventilation syndrome, congenital, with or without hirschsprung disease
edn3-related hirschsprung disease
hirschsprung disease 1
  • hirschsprung's disease
- elite association - COSMIC cancer census association via MalaCards
Search EDN3 in MalaCards View complete list of genes associated with diseases


  • 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.
  • 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.
  • 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.

Relevant External Links for EDN3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 60
  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 60
  3. New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. (PMID: 20009762) Sánchez-Mejías A … Borrego S (Genetics in medicine : official journal of the American College of Medical Genetics 2010) 3 45 60
  4. 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 45 60
  5. The correlation of genetic markers with anatomoclinical and histopathological forms in Hirschsprung's disease. (PMID: 20495744) Broască V … Severin B (Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 2010) 3 45 60

Products for EDN3 Gene

Sources for EDN3 Gene

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