This gene encodes a member of the endothelin protein family of secretory vasoconstrictive peptides. The preproprotein is processed to a short mature form which functions as a ligand for the endothelin receptors that initiate intracellular signaling events. This gene product is involved in a wide range of biological processes, such as hypertension and ovulation. Altered expressi... See more...

Aliases for EDN2 Gene

Aliases for EDN2 Gene

  • Endothelin 2 2 3 5
  • Endothelin-2 3 4
  • PPET2 3 4
  • ET-2 3 4
  • Preproendothelin 2 3
  • Preproendothelin-2 4
  • ET2 3

External Ids for EDN2 Gene

Previous GeneCards Identifiers for EDN2 Gene

  • GC01M041972
  • GC01M040948
  • GC01M041407
  • GC01M041357
  • GC01M041613
  • GC01M041717
  • GC01M040063
  • GC01M041944

Summaries for EDN2 Gene

Entrez Gene Summary for EDN2 Gene

  • This gene encodes a member of the endothelin protein family of secretory vasoconstrictive peptides. The preproprotein is processed to a short mature form which functions as a ligand for the endothelin receptors that initiate intracellular signaling events. This gene product is involved in a wide range of biological processes, such as hypertension and ovulation. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneCards Summary for EDN2 Gene

EDN2 (Endothelin 2) is a Protein Coding gene. Diseases associated with EDN2 include Mandibulofacial Dysostosis With Alopecia and Hypertension, Essential. Among its related pathways are Signaling by GPCR and Direct p53 effectors. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is EDN1.

UniProtKB/Swiss-Prot Summary for EDN2 Gene

Tocris Summary for EDN2 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 EDN2 Gene

Additional gene information for EDN2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EDN2 Gene

Genomics for EDN2 Gene

GeneHancer (GH) Regulatory Elements for EDN2 Gene

Promoters and enhancers for EDN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EDN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EDN2

Top Transcription factor binding sites by QIAGEN in the EDN2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Lmo2
  • NF-AT
  • Nkx2-5
  • STAT3

Genomic Locations for EDN2 Gene

Genomic Locations for EDN2 Gene
chr1:41,478,775-41,484,683
(GRCh38/hg38)
Size:
5,909 bases
Orientation:
Minus strand
chr1:41,944,446-41,950,344
(GRCh37/hg19)
Size:
5,899 bases
Orientation:
Minus strand

Genomic View for EDN2 Gene

Genes around EDN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDN2 Gene

Proteins for EDN2 Gene

  • Protein details for EDN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20800-EDN2_HUMAN
    Recommended name:
    Endothelin-2
    Protein Accession:
    P20800
    Secondary Accessions:
    • Q5T1R3

    Protein attributes for EDN2 Gene

    Size:
    178 amino acids
    Molecular mass:
    19960 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EDN2 Gene

Post-translational modifications for EDN2 Gene

  • Glycosylation at Thr116, Ser123, and Thr139
  • Modification sites at PhosphoSitePlus

Other Protein References for EDN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EDN2 Gene

Domains & Families for EDN2 Gene

Gene Families for EDN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for EDN2 Gene

Blocks:
  • Endothelin
  • Sarafotoxin/bibrotoxin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EDN2 Gene

GenScript: Design optimal peptide antigens:
  • Preproendothelin-2 (EDN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20800

UniProtKB/Swiss-Prot:

EDN2_HUMAN :
  • Belongs to the endothelin/sarafotoxin family.
Family:
  • Belongs to the endothelin/sarafotoxin family.
genes like me logo Genes that share domains with EDN2: view

Function for EDN2 Gene

Molecular function for EDN2 Gene

UniProtKB/Swiss-Prot Function:
Endothelins are endothelium-derived vasoconstrictor peptides.
GENATLAS Biochemistry:
endothelin 2 (vaso-constrictor/pressor peptide),involved in vascular remodeling,commonly expressed in right atrial tissue,susceptibility gene for essential hypertension

Phenotypes From GWAS Catalog for EDN2 Gene

Gene Ontology (GO) - Molecular Function for EDN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IDA 2649896
GO:0031708 endothelin B receptor binding IPI 1713452
genes like me logo Genes that share ontologies with EDN2: view
genes like me logo Genes that share phenotypes with EDN2: view

Animal Models for EDN2 Gene

MGI Knock Outs for EDN2:
  • Edn2 Edn2<tm1Ywa>
  • Edn2 Edn2<tm1.2Nat>
  • Edn2 Edn2<tm1b(KOMP)Mbp>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EDN2 Gene

Localization for EDN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDN2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 EDN2 gene
Compartment Confidence
extracellular 5
cytosol 3
plasma membrane 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EDN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 15691296
GO:0005623 cell IEA --
genes like me logo Genes that share ontologies with EDN2: view

Pathways & Interactions for EDN2 Gene

genes like me logo Genes that share pathways with EDN2: view

Gene Ontology (GO) - Biological Process for EDN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001516 prostaglandin biosynthetic process IDA 9492062
GO:0001659 temperature homeostasis IEA --
GO:0002690 positive regulation of leukocyte chemotaxis IDA 9696419
GO:0003058 hormonal regulation of the force of heart contraction TAS 1652300
GO:0003099 positive regulation of the force of heart contraction by chemical signal TAS 1652300
genes like me logo Genes that share ontologies with EDN2: view

No data available for SIGNOR curated interactions for EDN2 Gene

Drugs & Compounds for EDN2 Gene

(29) Drugs for EDN2 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

(14) Additional Compounds for EDN2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Endothelin 1 (human, porcine)
117399-94-7
Endothelin 2 (human)
123562-20-9

(5) Tocris Compounds for EDN2 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 EDN2: view

Transcripts for EDN2 Gene

mRNA/cDNA for EDN2 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDN2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
SP1: - - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - -
SP6: - - - -
SP7: - - - -

Relevant External Links for EDN2 Gene

GeneLoc Exon Structure for
EDN2

Expression for EDN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EDN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EDN2 Gene

This gene is overexpressed in Cervix - Ectocervix (x9.4), Vagina (x7.6), Esophagus - Mucosa (x6.9), Skin - Not Sun Exposed (Suprapubic) (x4.7), and Small Intestine - Terminal Ileum (x4.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EDN2

SOURCE GeneReport for Unigene cluster for EDN2 Gene:

Hs.1407

mRNA Expression by UniProt/SwissProt for EDN2 Gene:

P20800-EDN2_HUMAN
Tissue specificity: Expressed in lung, but not in placental stem villi vessels or cultured placental villi smooth muscle cells.

Evidence on tissue expression from TISSUES for EDN2 Gene

  • Kidney(4.4)
  • Intestine(4.3)
  • Stomach(4.2)
  • Heart(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with EDN2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EDN2 Gene

Orthologs for EDN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDN2 31 30
  • 99.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EDN2 31 30
  • 84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EDN2 31 30
  • 79.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Edn2 17 31 30
  • 78.23 (n)
rat
(Rattus norvegicus)
Mammalia Edn2 30
  • 76.95 (n)
oppossum
(Monodelphis domestica)
Mammalia EDN2 31
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDN2 31 30
  • 55.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EDN2 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia edn2 30
  • 53.7 (n)
zebrafish
(Danio rerio)
Actinopterygii edn2 31
  • 37 (a)
OneToOne
Species where no ortholog for EDN2 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EDN2 Gene

ENSEMBL:
Gene Tree for EDN2 (if available)
TreeFam:
Gene Tree for EDN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EDN2: view image

Paralogs for EDN2 Gene

Paralogs for EDN2 Gene

(1) SIMAP similar genes for EDN2 Gene using alignment to 1 proteins:

  • EDN2_HUMAN
genes like me logo Genes that share paralogs with EDN2: view

Variants for EDN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EDN2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
716660 Benign: not provided 41,481,197(-) C/T INTRON_VARIANT
rs11572371 - p.Pro168Leu
rs5798 - p.Phe131Leu

Additional dbSNP identifiers (rs#s) for EDN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for EDN2 Gene

Variant ID Type Subtype PubMed ID
nsv461350 CNV loss 19166990
nsv508171 CNV deletion 20534489
nsv525172 CNV loss 19592680
nsv546105 CNV loss 21841781
nsv633 CNV deletion 18451855

Variation tolerance for EDN2 Gene

Residual Variation Intolerance Score: 87.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.64; 72.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EDN2 Gene

Human Gene Mutation Database (HGMD)
EDN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDN2 Gene

Disorders for EDN2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for EDN2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mandibulofacial dysostosis with alopecia
  • mfda
hypertension, essential
  • eht
infiltrating angiolipoma
  • angiolipoma, infiltrating
hereditary lymphedema i
  • nonne-milroy lymphedema
aortic disease
  • aortic disorder
- elite association - COSMIC cancer census association via MalaCards
Search EDN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EDN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EDN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EDN2 Gene

Publications for EDN2 Gene

  1. A985G polymorphism of the endothelin-2 gene and atrial fibrillation in patients with hypertrophic cardiomyopathy. (PMID: 18037749) Nagai T … Higaki J (Circulation journal : official journal of the Japanese Circulation Society 2007) 3 23 41 54
  2. Quantitative association between a newly identified molecular variant in the endothelin-2 gene and human essential hypertension. (PMID: 10489105) Sharma P … Brown MJ (Journal of hypertension 1999) 3 23 41 54
  3. cDNA cloning and chromosomal assignment of the endothelin 2 gene: vasoactive intestinal contractor peptide is rat endothelin 2. (PMID: 1840558) Bloch KD … Quertermous T (Genomics 1991) 3 4 23 54
  4. Expression of endothelin-2 (ET-2) gene in a human renal adenocarcinoma cell line: purification and cDNA cloning of ET-2. (PMID: 1725387) Onda H … Ishibashi Y (Journal of cardiovascular pharmacology 1991) 3 4 23 54
  5. Specific expression of human endothelin-2 (ET-2) gene in a renal adenocarcinoma cell line. Molecular cloning of cDNA encoding the precursor of ET-2 and its characterization. (PMID: 1701397) Ohkubo S … Fujino M (FEBS letters 1990) 3 4 23 54

Products for EDN2 Gene

Sources for EDN2 Gene