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EDN2 Gene

protein-coding   GIFtS: 66
GCID: GC01M041944

Endothelin 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 4

Aliases
Endothelin 21 2     endothelin-22
ET-22 3     Preproendothelin 22
PPET22 3     preproendothelin-22
ET22     Preproendothelin-23

External Ids:    HGNC: 31771   Entrez Gene: 19072   Ensembl: ENSG000001271297   OMIM: 1312415   UniProtKB: P208003   
ORGUL members:    fRNAdb10:FR187967      
H-InvDB12:HIT000216023    
NCBI13:S63516    
NONCODE14:n334230 n334234 n334229 n334233 n334232    
RNAdb15:HIV1989    

Export aliases for EDN2 gene to outside databases

Previous GC identifers: GC01M041972 GC01M040948 GC01M041407 GC01M041357 GC01M041613 GC01M041717 GC01M040063


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. (provided by RefSeq, Oct 2008)

GeneCards Summary for EDN2 Gene:
EDN2 (endothelin 2) is a protein-coding gene. Diseases associated with EDN2 include aortic disease, and hypertension. GO annotations related to this gene include hormone activity. An important paralog of this gene is EDN1.

UniProtKB/Swiss-Prot: EDN2_HUMAN, P20800
Function: Endothelins are endothelium-derived vasoconstrictor peptides

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, 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 EDN2 (Endothelin 2) Gene

fRNAdb sequence ontology for EDN2:
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for EDN2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EDN2 gene promoter:
         E2F-4   E2F-3a   E2F-5   Lmo2   Nkx2-5   E2F-2   NF-AT   E2F-1   E2F   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEDN2 promoter sequence
   Search Chromatin IP Primers for EDN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EDN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34

EDN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EDN2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M041944:  view genomic region     (about GC identifiers)

Start:
41,944,446 bp from pter      End:
41,950,344 bp from pter
Size:
5,899 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EDN2_HUMAN, P20800 (See protein sequence)
Recommended Name: Endothelin-2 precursor  
Size: 178 amino acids; 19960 Da
Secondary accessions: Q5T1R3

Explore the universe of human proteins at neXtProt for EDN2: NX_P20800

Explore proteomics data for EDN2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr116, Ser123, Thr139
  • Modification sites at PhosphoSitePlus

  • See EDN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001947.1  
    ENSEMBL proteins: 
     ENSP00000361668  
    Reactome Protein details: P20800

    EDN2 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for EDN2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    4 InterPro protein domains:
     IPR001928 Endothln-like_toxin
     IPR020475 Bibrotoxin/Sarafotoxin-D
     IPR019764 Endothelin_toxin_CS
     IPR015658 ET-2

    Graphical View of Domain Structure for InterPro Entry P20800

    ProtoNet protein and cluster: P20800

    2 Blocks protein domains:
    IPB003641 Endothelin
    IPB003642 Sarafotoxin/bibrotoxin


    UniProtKB/Swiss-Prot: EDN2_HUMAN, P20800
    Similarity: Belongs to the endothelin/sarafotoxin family


    EDN2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EDN2_HUMAN, P20800
    Function: Endothelins are endothelium-derived vasoconstrictor peptides

         Genatlas biochemistry entry for EDN2:
    endothelin 2 (vaso-constrictor/pressor peptide),involved in vascular remodeling,commonly expressed in right atrial
    tissue,susceptibility gene for essential hypertension

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005179hormone activity IDA2649896
         
    EDN2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EDN2:
     Decreased telomerase activity 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Edn2):
     adipose tissue  digestive/alimentary  growth/size/body  hematopoietic system  homeostasis/metabolism 
     mortality/aging  respiratory system  vision/eye 

    EDN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EDN2: Edn2tm1Ywa Edn2tm1.2Nat

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EDN2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EDN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EDN2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EDN2

    miRNA
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    miRTarBase miRNAs that target EDN2:
    hsa-mir-26b-5p (MIRT030221)

    Block miRNA regulation of human, mouse, rat EDN2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate EDN2:
    hsa-miR-323-3p hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmidEDN2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EDN2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: EDN2 (NM_001956)
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EDN2_HUMAN, P20800: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA15691296

    EDN2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EDN2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    3Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    4Selected targets of p53
    Selected targets of p53
    5Endothelins
    Endothelins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for EDN2
        Direct p53 effectors
    Endothelins


    2 Reactome Pathways for EDN2
        Peptide ligand-binding receptors
    G alpha (q) signalling events



    EDN2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EDN2: 
              Hypertension in human mouse rat
              Endothelial Cell Biology in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for EDN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EDN2 (P208003 ENSP000003616684) via UniProtKB, MINT, STRING, and/or I2D (see all 127)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KELP232763, ENSP000003474094I2D: score=2 STRING: ENSP00000347409
    MMEP084733, ENSP000003536794I2D: score=2 STRING: ENSP00000353679
    CMA1P239463, ENSP000002503784I2D: score=1 STRING: ENSP00000250378
    AGTR1ENSP000002734304STRING: ENSP00000273430
    ANXA1ENSP000002574974STRING: ENSP00000257497
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001516prostaglandin biosynthetic process IDA9492062
    GO:0002690positive regulation of leukocyte chemotaxis IDA9696419
    GO:0003058hormonal regulation of the force of heart contraction TAS1652300
    GO:0003099positive regulation of the force of heart contraction by chemical signal TAS1652300
    GO:0003100regulation of systemic arterial blood pressure by endothelin IDA2649896

    EDN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for EDN2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Sarafotoxin S6aEndothelin receptor agonist[126738-34-9]
    Endothelin 3 (human, rat) Potent vasoconstrictor[117399-93-6]
    Endothelin 1 (human, porcine) Potent vasoconstrictor peptide[117399-94-7]
    Endothelin 2 (human)ETA/ETB agonist[122879-69-0]
    Sarafotoxin S6b Endothelin receptor agonist, non-selective [116303-65-2]

    Selected Novoseek inferred chemical compound relationships for EDN2 gene (see all 38)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sarafotoxin 91.8 52 2282471 (6), 1725315 (2), 10455253 (2), 9124371 (2) (see all 32)
    bq123 86.6 5 8650075 (1), 8717152 (1)
    fr139317 83.5 2 9831924 (1)
    phosphoramidon 82.9 16 1468574 (3), 8825361 (2), 7864859 (1), 10750028 (1) (see all 8)
    thiorphan 75.1 6 8825361 (2), 9110381 (1), 10455291 (1), 7797512 (1)
    irl 1620 60.6 1 8650075 (1)
    prostacyclin 38.7 4 8401924 (1), 7735698 (1)
    inositol triphosphate 32.7 1 8447814 (1)
    calcium 31.7 33 8717152 (4), 1407005 (2), 1332876 (2), 8380432 (2) (see all 14)
    inositol 1,4,5 trisphosphate 25.7 1 1917960 (1)



    EDN2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    1 fRNAdb Secondary structure:


    REFSEQ mRNAs for EDN2 gene: 
    NM_001956.3  

    Unigene Cluster for EDN2:

    Endothelin 2
    Hs.1407  [show with all ESTs]
    Unigene Representative Sequence: BC034393
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372587(uc001cgu.3 uc001cgv.3 uc009vwh.3 uc001cgw.3 uc009vwi.3 uc009vwj.3 uc001cgx.3)
    ENST00000490783 ENST00000467046 ENST00000467872 ENST00000460255
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate EDN2:
    hsa-miR-323-3p hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmidEDN2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat EDN2

    Additional mRNA sequence: 

    BC034393.1 M65199.1 S63833.1 S63834.1 S63835.1 S63836.1 S63837.1 S63838.1 
    X55177.1 

    1 DOTS entry:

    DT.207009 

    21 AceView cDNA sequences:

    BC034393 AW276532 NM_001956 AW452560 S63835 AI628621 S63836 S63837 
    S63516 BX119098 BI761655 X55177 S63834 S63838 BI760483 BV199041 
    M65199 S63833 BI769422 AI140863 AA570005 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EDN2 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for EDN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EDN2 expression in normal human tissues (normalized intensities)      EDN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCAGCCAG
    EDN2 Expression
    About this image


    EDN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
    EDN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EDN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1407

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EDN2: 
              Hypertension in human mouse rat
              Endothelial Cell Biology in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for EDN2
    OriGene qSTAR qPCR primer pairs in human, mouse for EDN2
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    QuantiFast Probe-based Assays in human, mouse, rat EDN2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDN2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for EDN2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Edn21 , 5 endothelin 21, 5 78.23(n)1
    68.79(a)1
      4 (55.77 cM)5
    136151  NM_007902.21  NP_031928.21 
     1201612065 
    chicken
    (Gallus gallus)
    Aves EDN21 endothelin 2 55.62(n)
    47.59(a)
      419559  NM_001198655.2  NP_001185584.1 
    lizard
    (Anolis carolinensis)
    Reptilia EDN26
    endothelin 2
    63(a)
    1 ↔ 1
    GL343563.1(248769-249330)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia edn21 endothelin 2 53.7(n)
    51.59(a)
      100489981  XM_002939354.2  XP_002939400.2 
    zebrafish
    (Danio rerio)
    Actinopterygii edn26
    endothelin 2
    37(a)
    1 ↔ 1
    19(14708747-14714030) ENSDARG00000070578


    ENSEMBL Gene Tree for EDN2 (if available)
    TreeFam Gene Tree for EDN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EDN2 gene
    EDN12  EDN32  
    1 SIMAP similar gene for EDN2 using alignment to 1 protein entry:     EDN2_HUMAN:
    EDN3

    EDN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EDN2 (see all 231)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1928165331,2
    C--41944013(+) ACCCCC/TCACTG 1 -- ds50010--------
    rs66783431,2
    C,F,H--41944096(+) ACTGTC/AAGCCT 1 -- ds50017Minor allele frequency- A:0.11NS EA WA 712
    rs1847959721,2
    --41944139(+) CCTCCA/GCCCTC 1 -- ds50010--------
    rs112102621,2
    C,F,H--41944144(-) GACACG/CAGGGT 1 -- ds500113Minor allele frequency- C:0.08NS EA NA WA 1360
    rs115723761,2
    C,H--41944167(-) GGAGCG/ATGTGT 1 -- ds50015Minor allele frequency- A:0.00NS EA 582
    rs115723751,2
    C,F--41944168(-) AGGAGC/TGTGTG 1 -- ds50013Minor allele frequency- T:0.04NS CSA WA 300
    rs66908391,2
    C,F,A,H--41944183(+) AAGGGA/CTGGCC 1 -- ds500135Minor allele frequency- G:0.00NS EA NA WA 3802
    rs66785691,2
    C,F--41944307(+) AGACAC/ACCAGC 1 -- ds50013Minor allele frequency- A:0.18NS WA 280
    rs1882381211,2
    --41944315(+) AGCAAA/GGGTGG 1 -- ds50010--------
    rs66786921,2
    C,F,H--41944440(+) AAAAAC/ACAGAG 1 -- ds500114Minor allele frequency- A:0.16NS EA NA WA 1662

    HapMap Linkage Disequilibrium report for EDN2 (41944446 - 41950344 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for EDN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508171CNV Loss20534489
    nsv525172CNV Loss19592680
    nsv633CNV Loss18451855
    nsv870806CNV Loss21882294
    nsv871918CNV Loss21882294
    nsv870508CNV Loss21882294
    nsv461350CNV Loss19166990
    nsv870871CNV Loss21882294

    Human Gene Mutation Database (HGMD): EDN2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EDN2
    DNA2.0 Custom Variant and Variant Library Synthesis for EDN2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 131241OMIM information: 115665 116600 121800 155600 211420 600975 605225 605606 606788 606852 606928 607317 607671 608446 608543 608553 608995    
    Selected diseases for EDN2 (see all 30):    About MalaCards
    aortic disease    hypertension    patent ductus arteriosus    essential hypertension
    vascular disease    primary biliary cirrhosis    hypertrophic cardiomyopathy    polycystic ovary syndrome
    basal cell carcinoma    clear cell renal cell carcinoma    choriocarcinoma    lung cancer
    ovarian cancer    cystic fibrosis    neuroblastoma    hypoxia
    renal cell carcinoma    astrocytoma    cervical cancer    sarcoma


    EDN2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for EDN2 gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    essential hypertension 37.6 2 10489105 (1)
    carcinoma renal cell 26.2 17 1701397 (2), 1722462 (2), 7695628 (2), 1725387 (1) (see all 7)
    cardiovascular diseases 23.8 1 10494802 (1)
    hypertension pulmonary 16.3 1 10598486 (1)
    vascular diseases 8.06 1 16879056 (1)
    ewings sarcoma 3.65 1 12193114 (1)
    renal failure 0.645 3 16741037 (2)
    renal failure chronic 0 3 16741037 (1)
    necrosis 0 3 10750028 (2), 9595397 (1)
    inflammation 0 1 12184531 (1)

    Genetic Association Database (GAD): EDN2
    Human Genome Epidemiology (HuGE) Navigator: EDN2 (11 documents)

    Export disorders for EDN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EDN2 gene, integrated from 10 sources (see all 258):
    (articles sorted by number of sources associating them with EDN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and chromosomal assignment of the endothelin 2 gene: vasoactive intestinal contractor peptide is rat endothelin 2. (PubMed id 1840558)1, 2, 9 Bloch K.D.... Quertermous T. (Genomics 1991)
    2. Expression of endothelin-2 (ET-2) gene in a human renal adenocarcinoma cell line: purification and cDNA cloning of ET-2. (PubMed id 1725387)1, 2, 9 Onda H....Fujino M. (J. Cardiovasc. Pharmacol. 1991)
    3. 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. (PubMed id 1701397)1, 2, 9 Ohkubo S.... Fujino M. (FEBS Lett. 1990)
    4. Quantitative association between a newly identified molecular variant in the endothelin-2 gene and human essential hypertension. (PubMed id 10489105)1, 4, 9 Sharma P....Brown M.J. (J. Hypertens. 1999)
    5. A985G polymorphism of the endothelin-2 gene and atrial fibrillation in patients with hypertrophic cardiomyopathy. (PubMed id 18037749)1, 4, 9 Nagai T....Higaki J. (Circ. J. 2007)
    6. EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity. (PubMed id 20028935)1, 4, 9 Darrah R....Drumm M.L. (Physiol. Genomics 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PubMed id 20140262)1, 4 Ryckman K.K....Jacobsson B. (PLoS ONE 2010)
    9. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PubMed id 19336370)1, 4 Dagle J.M....Murray J.C. (Pediatrics 2009)
    10. Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants. (PubMed id 19527514)1, 4 Menon R....Thorsen P. (amp 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1907 HGNC: 3177 AceView: EDN2 Ensembl:ENSG00000127129 euGenes: HUgn1907
    ECgene: EDN2 H-InvDB: EDN2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EDN2 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/edn2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EDN2 gene:
    Search GeneIP for patents involving EDN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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