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Aliases for EDN3 Gene

Aliases for EDN3 Gene

  • Endothelin 3 2 3
  • Preproendothelin-3 3 4
  • HSCR4 3 6
  • PPET3 3 4
  • WS4B 3 6
  • ET-3 3 4
  • Endothelin-3 3
  • ET3 3

External Ids for EDN3 Gene

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 hirschsprung disease 4 and waardenburg syndrome, type 4b. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include receptor binding and hormone activity. An important paralog of this gene is EDN2.

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, and two distinct endothelin receptors have so far been cloned in mammals, classified as ETA and ETB receptors. Endothelin receptors are widely expressed in all tissues, which is consistent with their physiological role as vasoactive peptides. They are also localized to non-vascular structures including epithelial cells, glia and neurons. The principle physiological role of endothelin receptors is the maintenance of vascular tone. They also have co-mitogenic activity, potentiating the effects of other growth factors such as PDGF.

Gene Wiki entry for EDN3 Gene

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

Genomics for EDN3 Gene

Genomic Location for EDN3 Gene

Start:
59,300,427 bp from pter
End:
59,325,992 bp from pter
Size:
25,566 bases
Orientation:
Plus strand

Genomic View for EDN3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EDN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDN3 Gene

Regulatory Elements for EDN3 Gene

Proteins for EDN3 Gene

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

    Protein Symbol:
    P14138-EDN3_HUMAN
    Recommended name:
    Endothelin-3
    Protein Accession:
    P14138
    Secondary Accessions:
    • E1P5I5
    • Q03229
    • Q7Z6D2
    • Q9UGT7

    Protein attributes for EDN3 Gene

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

    Alternative splice isoforms for EDN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDN3 Gene

Proteomics data for EDN3 Gene at MOPED

Post-translational modifications for EDN3 Gene

No Post-translational modifications

Other Protein References for EDN3 Gene

No data available for DME Specific Peptides for EDN3 Gene

Domains for EDN3 Gene

Gene Families for EDN3 Gene

HGNC:

UniProtKB/Swiss-Prot:

EDN3_HUMAN
Family:
  • Belongs to the endothelin/sarafotoxin family.:
    • P14138
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:

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 10770212
genes like me logo Genes that share ontologies with EDN3: view
genes like me logo Genes that share phenotypes with EDN3: view

Animal Models for EDN3 Gene

MGI Knock Outs for EDN3:

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

Localization for EDN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDN3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EDN3 Gene COMPARTMENTS Subcellular localization image for EDN3 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 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
genes like me logo Genes that share ontologies with EDN3: view

Pathways for EDN3 Gene

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

Pathways by source for EDN3 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for EDN3 Gene
1 BioSystems pathway 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

Compounds for EDN3 Gene

(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 [122879-69-0]
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]

(84) Novoseek inferred chemical compound relationships for EDN3 Gene

Compound -log(P) Hits PubMed IDs
sarafotoxin 95.2 107
bq123 92.3 22
fr139317 89.9 4
bq 3020 85.8 2
phosphoramidon 85.3 21
genes like me logo Genes that share compounds with EDN3: view

Transcripts for EDN3 Gene

Unigene Clusters for EDN3 Gene

Endothelin 3:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d
SP1: -
SP2:
SP3: - -
SP4: - -

Relevant External Links for EDN3 Gene

GeneLoc Exon Structure for
EDN3
ECgene alternative splicing isoforms for
EDN3

Expression for EDN3 Gene

mRNA expression in normal human tissues 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 (15.3) and Cervix - Ectocervix (8.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EDN3 Gene

SOURCE GeneReport for Unigene cluster for EDN3 Gene Hs.1408

mRNA Expression by UniProt/SwissProt for EDN3 Gene

P14138-EDN3_HUMAN
Tissue specificity: Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells.
genes like me logo Genes that share expressions with EDN3: view

Orthologs for EDN3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDN3 36
  • 99.39 (n)
  • 99.09 (a)
EDN3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EDN3 36
  • 72.9 (n)
  • 62.57 (a)
EDN3 37
  • 34 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EDN3 36
  • 79.57 (n)
  • 73.66 (a)
EDN3 37
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Edn3 36
  • 76.1 (n)
  • 66.83 (a)
Edn3 16
Edn3 37
  • 49 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EDN3 37
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Edn3 36
  • 75.81 (n)
  • 65.85 (a)
chicken
(Gallus gallus)
Aves EDN3 36
  • 58.08 (n)
  • 53.89 (a)
EDN3 37
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EDN3 37
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii EDN3 (1 of 3) 37
  • 64 (a)
OneToMany
EDN3 (3 of 3) 37
  • 32 (a)
OneToMany
edn3b 37
  • 33 (a)
OneToMany
Species with no ortholog for EDN3:
  • 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

ENSEMBL:
Gene Tree for EDN3 (if available)
TreeFam:
Gene Tree for EDN3 (if available)

Paralogs for EDN3 Gene

Paralogs for EDN3 Gene

Selected 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 MAF
rs12322 -- 59,325,714(+) AGAAG(C/T)GATTA utr-variant-3-prime
rs71132 -- 59,314,488(-) TAACA(C/G)CTCTC intron-variant
rs107421 -- 59,318,155(-) GTACC(C/T)GGAGC intron-variant
rs149214 -- 59,301,185(+) AGTTT(G/T)CAGAA intron-variant
rs149334 -- 59,300,499(-) GCGCA(A/C)TGGGG utr-variant-5-prime, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv3433 CNV Insertion 18451855

Relevant External Links for EDN3 Gene

HapMap Linkage Disequilibrium report
EDN3
Human Gene Mutation Database (HGMD)
EDN3
Locus Specific Mutation Databases (LSDB)
EDN3

Disorders for EDN3 Gene

(3) OMIM Diseases for EDN3 Gene (131242)

UniProtKB/Swiss-Prot

EDN3_HUMAN
  • 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.

(3) University of Copenhagen DISEASES for EDN3 Gene

(50) Novoseek inferred disease relationships for EDN3 Gene

Disease -log(P) Hits PubMed IDs
shah-waardenburg syndrome 87 6
hirschsprung disease 86.1 32
waardenburgs syndrome 82.1 3
colonic aganglionosis 63.7 4
central hypoventilation syndrome, congenital 52.1 1

Relevant External Links for EDN3

GeneTests
EDN3
GeneReviews
EDN3
Genetic Association Database (GAD)
EDN3
Human Genome Epidemiology (HuGE) Navigator
EDN3
genes like me logo Genes that share disorders with EDN3: view

Publications for EDN3 Gene

  1. Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. (PMID: 8696331) Bolk S. … Chakravarti A. (Nat. Genet. 1996) 3 4 23
  2. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. (PMID: 9359047) Bidaud C. … Lyonnet S. (Eur. J. Hum. Genet. 1997) 3 4 23
  3. Proteolytic processing of big endothelin-3 by the kell blood group protein. (PMID: 10438732) Lee S. … Redman C. (Blood 1999) 3 4 23
  4. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah- Waardenburg syndrome). (PMID: 8630503) Hofstra R.M.W. … Buys C.H.C.M. (Nat. Genet. 1996) 3 4 23
  5. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? (PMID: 11303518) Pingault V. … Goossens M. (J. Med. Genet. 2001) 3 4 23

Products for EDN3 Gene

Sources for EDN3 Gene

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