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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EDN3 Gene

protein-coding   GIFtS: 69
GCID: GC20P057875

Endothelin 3

  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)
About This Section

Aliases
Endothelin 31 2     ET32
ET-32 3     endothelin-32
PPET32 3     preproendothelin-32
HSCR42 5     Preproendothelin-33
WS4B2 5     

External Ids:    HGNC: 31781   Entrez Gene: 19082   Ensembl: ENSG000001242057   OMIM: 1312425   UniProtKB: P141383   

Export aliases for EDN3 gene to outside databases

Previous GC identifers: GC20P057603 GC20P058513 GC20P058560 GC20P057308 GC20P054663


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Four alternatively spliced transcript variants encoding three distinct isoforms have been
observed. (provided by RefSeq, Jul 2008)

GeneCards Summary for EDN3 Gene: 
EDN3 (endothelin 3) is a protein-coding gene. Diseases associated with EDN3 include interstitial nephritis, and edn3-related hirschsprung disease, and among its related super-pathways are Signaling by GPCR and GPCR ligand binding. GO annotations related to this gene include hormone activity and receptor binding. An important paralog of this gene is EDN2.

UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138
Function: Endothelins are endothelium-derived vasoconstrictor peptides

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 (Endothelin 3) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EDN3 gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEDN3 promoter sequence
   Search SABiosciences Chromatin IP Primers for EDN3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EDN3


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

Entrez Gene cytogenetic band: 20q13.2-q13.3   Ensembl cytogenetic band:  20q13.32   HGNC cytogenetic band: 20q13.2-q13.3

EDN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EDN3 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P057875:  view genomic region     (about GC identifiers)

Start:
57,875,482 bp from pter      End:
57,901,047 bp from pter
Size:
25,566 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138 (See protein sequence)
Recommended Name: Endothelin-3 precursor  
Size: 238 amino acids; 25454 Da
Subcellular location: Secreted
Sequence caution: Sequence=AAR16083.1; Type=Erroneous gene model prediction;
Secondary accessions: E1P5I5 Q03229 Q7Z6D2 Q9UGT7
Alternative splicing: 3 isoforms:  P14138-1   P14138-2   P14138-3   

Explore the universe of human proteins at neXtProt for EDN3: NX_P14138

Explore proteomics data for EDN3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P14138

  • EDN3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EDN3 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_000105.1  NP_996915.1  NP_996916.1  NP_996917.1  

    ENSEMBL proteins: 
     ENSP00000337128   ENSP00000311854   ENSP00000360064   ENSP00000379015   ENSP00000360067  
    Reactome Protein details: P14138
    Human Recombinant Protein Products for EDN3: 
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    ProSpec Recombinant Protein for EDN3
    Cloud-Clone Corp. Proteins for EDN3 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    EDN3 for ontologies           About GeneDecksing



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

    3 InterPro protein domains:
     IPR001928 Endothln-like_toxin
     IPR020475 Bibrotoxin/Sarafotoxin-D
     IPR019764 Endothelin_toxin_CS

    Graphical View of Domain Structure for InterPro Entry P14138

    ProtoNet protein and cluster: P14138

    2 Blocks protein domains:
    IPB003641 Endothelin
    IPB003642 Sarafotoxin/bibrotoxin


    UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138
    Similarity: Belongs to the endothelin/sarafotoxin family


    EDN3 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EDN3_HUMAN, P14138
    Function: Endothelins are endothelium-derived vasoconstrictor peptides

         Genatlas biochemistry entry for EDN3:
    endothelin 3 (vaso-constrictor/pressor peptide),murine lethal spotting homologous

         Summary:
    EDN3 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Melanocytes-like cells from Head Mesenchyme

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding TAS8298278
    GO:0005179hormone activity IDA10770212
         
    EDN3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EDN3:
     Increased G1 DNA content 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Edn3):
     behavior/neurological  digestive/alimentary  embryogenesis  integument  mortality/aging 
     nervous system  pigmentation 

    EDN3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Edn3tm1Ywa for EDN3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EDN3 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EDN3 
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    SwitchGear 3'UTR luciferase reporter plasmidEDN3 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EDN3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    2Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    3G alpha (q) signalling events
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    4Development Angiotensin activation of ERK
    Development EDNRB signaling0.54
    5Endothelins
    Endothelins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for EDN3
        Development EDNRB signaling


    1 GeneGo (Thomson Reuters) Pathway for EDN3
        Development EDNRB signaling

    1 BioSystems Pathway for EDN3
        Endothelins


    5/8        Reactome Pathways for EDN3 (see all 8)
        GPCR downstream signaling
    Peptide ligand-binding receptors
    Gastrin-CREB signalling pathway via PKC and MAPK
    Signaling by GPCR
    GPCR ligand binding



    EDN3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EDN3

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

    5/126 Interacting proteins for EDN3 (P141383 ENSP000003371284) via UniProtKB, MINT, STRING, and/or I2D (see all 126)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTSEP140913, ENSP000003509114I2D: score=1 STRING: ENSP00000350911
    EDNRBP245303, ENSP000003353114I2D: score=1 STRING: ENSP00000335311
    KELP232763, ENSP000003474094I2D: score=1 STRING: ENSP00000347409
    CMA1P239463, ENSP000002503784I2D: score=1 STRING: ENSP00000250378
    EDNRAP251013, ENSP000003150114I2D: score=1 STRING: ENSP00000315011
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001755neural crest cell migration IEA--
    GO:0002690positive regulation of leukocyte chemotaxis IDA9696419
    GO:0003100regulation of systemic arterial blood pressure by endothelin IDA2649896
    GO:0007165signal transduction TAS8298278
    GO:0007166cell surface receptor signaling pathway IDA1713452

    EDN3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EDN3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for EDN3 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]

    10/84 Novoseek inferred chemical compound relationships for EDN3 gene (see all 84)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sarafotoxin 95.2 130 2282471 (5), 7965709 (3), 9124371 (3), 1848560 (2) (see all 86)
    bq123 92.3 28 8004404 (3), 7952888 (2), 8181477 (2), 8041764 (1) (see all 18)
    fr139317 89.9 5 9595416 (1), 9440503 (1), 9831924 (1), 7965709 (1)
    bq 3020 85.8 2 8473300 (1), 8538918 (1)
    phosphoramidon 85.3 23 1504719 (5), 8341132 (3), 8449237 (2), 7510007 (2) (see all 13)
    bq788 84.8 10 9595416 (2), 9592035 (1), 8904635 (1), 7616437 (1) (see all 8)
    irl 1620 83.2 7 8473300 (1), 7616437 (1), 9440503 (1), 8568666 (1) (see all 7)
    pd 142893 78.7 4 7616437 (1), 8786643 (1), 9272381 (1), 8216314 (1)
    bq 485 72.9 1 9870082 (1)
    thiorphan 67.5 2 8825361 (1), 7797512 (1)

    Search CenterWatch for drugs/clinical trials and news about EDN3

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EDN3 gene (4 alternative transcripts): 
    NM_000114.2  NM_207032.1  NM_207033.1  NM_207034.1  

    Unigene Cluster for EDN3:

    Endothelin 3
    Hs.1408  [show with all ESTs]
    Unigene Representative Sequence: BC053866
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337938(uc002yap.3 uc002yaq.3 uc002yas.3) ENST00000311585(uc002yar.3)
    ENST00000371025 ENST00000395654 ENST00000371028(uc002yao.1)
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    Additional mRNA sequence: 

    BC008876.2 BC053866.1 BT007085.1 DQ096281.1 J05081.1 S50864.1 S50866.1 X52001.1 

    5 DOTS entries:

    DT.114182  DT.100748839  DT.40271247  DT.97802238  DT.97766026 

    24/64 AceView cDNA sequences (see all 64):

    CD723234 BM663176 NM_207034 NM_000114 CK905827 NM_207033 W96122 BM672979 
    W96123 NM_207032 BC008876 BT007085 BC053866 X52001 BM505488 BX099047 
    S50866 CK905826 W60669 AL546954 S50864 T67005 AA779341 AI676247 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for EDN3    About this scheme

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


    ECgene alternative splicing isoforms for EDN3

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EDN3 expression in normal human tissues (normalized intensities)      EDN3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAAATGAA
    EDN3 Expression
    About this image


    EDN3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Growth Plate
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   
     
     Uterus (Reproductive System)
             cervix   
     
     Intestine (Gastrointestinal Tract)
             small intestine   
     
     Heart (Cardiovascular System)
             Beating cell clusters ( Spontaneous differentiation of cardiomyocytes and further...

    See EDN3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EDN3

    SOURCE GeneReport for Unigene cluster: Hs.1408

    UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138
    Tissue specificity: Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental
    smooth muscle cells

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for EDN3 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Edn31 , 5 endothelin 31, 5 78.02(n)1
    69.19(a)1
      2 (98.10 cM)5
    136161  NM_007903.31  NP_031929.11 
     1747606195 
    chicken
    (Gallus gallus)
    Aves EDN31 endothelin 3 57.98(n)
    47.88(a)
      768509  XM_001231487.2  XP_001231488.2 
    lizard
    (Anolis carolinensis)
    Reptilia EDN36
    Uncharacterized protein
    72(a)
    1 ↔ 1
    GL343569.1(56952-119638)
    zebrafish
    (Danio rerio)
    Actinopterygii edn3b1 endothelin 3b 48.78(n)
    42.28(a)
      100148183  XM_001919551.1  XP_001919586.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EDN3 gene
    EDN22  EDN12  
    2 SIMAP similar genes for EDN3 using alignment to 3 protein entries:     EDN3_HUMAN (see all proteins):
    EDN1    EDN2

    EDN3 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/700 SNPs in EDN3 are shown (see all 700)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0152384
    Waardenburg syndrome 4B (WS4B)4--see VAR_0152382 Y C mis40--------
    VAR_0023534
    Waardenburg syndrome 4B (WS4B)4--see VAR_0023532 C F mis40--------
    rs115702551,2,4
    C,F,HHirschsprung disease 4 (HSCR4)4 other157845930(+) CCGCCG/ACAGGT 8 /T /A mis1 ese37Minor allele frequency- A:0.00NS EA NA 2764
    rs115703511,2,4
    C,F,HHirschsprung disease 4 (HSCR4)4 other157869482(+) CCCTCG/ACTCCA 7 /T /A mis1 ut318Minor allele frequency- A:0.00NS NA CSA 5326
    rs743153841,2
    Cpathogenic157866197(+) GCGCTG/TCGCTT 8 C F mis10--------
    rs743153851,2
    Cpathogenic157866228(+) GCCTGA/C/TCTGCA 8 * C stg10--------
    rs2008751001,2
    --54673024(+) GAGCG-/CCAAAT 4 -- int10--------
    rs1823474411,2
    --57843522(+) TCCAAG/TAACTT 4 -- us2k10--------
    rs2607421,2
    C,F,A,H--57843523(-) AAAGTC/TCTTGG 4 -- us2k112Minor allele frequency- T:0.32NA WA CSA EA 376
    rs115702451,2
    C,F--57843721(+) GAAAAG/CAGACC 4 -- us2k1 trp31Minor allele frequency- C:0.01NS 168

    HapMap Linkage Disequilibrium report for EDN3 (57875482 - 57901047 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EDN3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv3433CNV Insertion18451855


    Human Gene Mutation Database (HGMD): EDN3

    Locus Specific Mutation Databases (LSDB): EDN3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EDN3
    DNA2.0 Custom Variant and Variant Library Synthesis for EDN3

    (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.)
    About This Section
    OMIM gene information: 131242   
    OMIM disorders: 613265  209880  613712  
    UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138
  • 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. 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. 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). Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/66 diseases for EDN3 (see all 66):    About MalaCards
    interstitial nephritis    edn3-related hirschsprung disease    waardenburg syndrome type ivb    waardenburg syndrome type 4
    waardenburg's syndrome    hirschsprung's disease    varicose veins    congenital central hypoventilation syndrome
    central hypoventilation syndrome    waardenburg syndrome type 2    intestinal obstruction    hepatorenal syndrome
    intestinal pseudo-obstruction    portal hypertension    megacolon    pulmonary sarcoidosis
    cerebral infarction    neuroepithelioma    cholera    sleep apnea

    3 diseases from the University of Copenhagen DISEASES database for EDN3:
    Hirschsprung's disease     Waardenburg's syndrome     Intestinal obstruction

    EDN3 for disorders           About GeneDecksing

    10/50 Novoseek inferred disease relationships for EDN3 gene (see all 50)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shah-waardenburg syndrome 87 7 8630503 (1), 11303518 (1), 9359047 (1), 9279758 (1) (see all 6)
    hirschsprung disease 86.1 52 10792313 (4), 14669347 (3), 20009762 (3), 9094028 (1) (see all 25)
    waardenburgs syndrome 82.1 4 8630503 (1), 9359047 (1), 9035203 (1)
    colonic aganglionosis 63.7 6 8630503 (1), 9895385 (1), 10792313 (1), 19556619 (1)
    central hypoventilation syndrome, congenital 52.1 1 8696331 (1)
    subarachnoid hemorrhage 33.7 5 1983878 (2), 9385564 (1), 1410800 (1), 7815135 (1)
    cerebral vasospasm 30.8 2 1983878 (2)
    vasospasm 21.6 1 8301307 (1)
    hypertension pulmonary 19.3 1 8431058 (1)
    cirrhosis 19.2 30 8719927 (6), 7875671 (4), 7499784 (4), 8750167 (4) (see all 11)

    GeneTests: EDN3
    GeneReviews: EDN3
    Genetic Association Database (GAD): EDN3
    Human Genome Epidemiology (HuGE) Navigator: EDN3 (10 documents)

    Export disorders for EDN3 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)
    About This Section

    PubMed articles for EDN3 gene, integrated from 9 sources (see all 519):
    (articles sorted by number of sources associating them with EDN3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Proteolytic processing of big endothelin-3 by the kell blood group protein. (PubMed id 10438732)1, 2, 9 Lee S....Redman C. (1999)
    2. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah- Waardenburg syndrome). (PubMed id 8630503)1, 2, 9 Hofstra R.M.W.... Buys C.H.C.M. (1996)
    3. New roles of EDNRB and EDN3 in the pathogenesis of Hi rschsprung disease. (PubMed id 20009762)1, 4, 9 SA!nchez-MejA-as A....Borrego S. (2010)
    4. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. (PubMed id 12189494)1, 2, 9 Pingault V.... Goossens M. (2002)
    5. The correlation of genetic markers with anatomoclinic al and histopathological forms in Hirschsprung's disease. (PubMed id 20495744)1, 4, 9 BroascA8 V....Severin B. (2010)
    6. EDNRA variants associate with smooth muscle mRNA leve ls, cell proliferation rates, and cystic fibrosis pulmonary disease severity. (PubMed id 20028935)1, 4, 9 Darrah R....Drumm M.L. (2010)
    7. Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients. (PubMed id 17009072)1, 4, 9 Sangkhathat S....Fukuzawa M. (2006)
    8. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? (PubMed id 11303518)1, 2, 9 Pingault V....Goossens M. (2001)
    9. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. (PubMed id 9359047)1, 2, 9 Bidaud C....Lyonnet S. (1997)
    10. Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. (PubMed id 9359036)1, 2, 9 Hofstra R.M.W.... Buys C.H.C.M. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1908 HGNC: 3178 AceView: EDN3 Ensembl:ENSG00000124205 euGenes: HUgn1908
    ECgene: EDN3 H-InvDB: EDN3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EDN3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDN3
    NIEHS-SNPshttp://egp.gs.washington.edu/data/edn3/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EDN3 gene:
    Search GeneIP for patents involving EDN3

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



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    About This Section

     
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