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EDN3 Gene

protein-coding   GIFtS: 67
GCID: GC20P057875

Endothelin 3

  See EDN3-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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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hirschsprung disease 4, and waardenburg syndrome type ivb. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   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 Chromatin IP Primers for EDN3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138 (See protein sequence)
Recommended Name: Endothelin-3 precursor  
Size: 238 amino acids; 25454 Da
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


See EDN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

EDN3 Human Recombinant Protein Products:

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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

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


Find genes that share domains with EDN3           About GenesLikeMe


(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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:
            
Head Mesenchyme: Melanocytes-like cells , Melanocytes-like cells

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005102receptor binding TAS8298278
GO:0005179hormone activity IDA10770212
     
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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 

Find genes that share phenotypes with EDN3           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Edn3tm1Ywa for EDN3

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EDN3
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SwitchGear 3'UTR luciferase reporter plasmidEDN3 3' UTR sequence
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Predesigned siRNA for gene silencing in human, mouse, rat EDN3

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDN3


(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
EDN3_HUMAN, P14138: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
plasma membrane2
cytoskeleton1
cytosol1
mitochondrion1
nucleus1
peroxisome1

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

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

Find genes that share ontologies with EDN3           About GenesLikeMe


(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 EDN3 About    
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
4Development Angiotensin activation of ERK
Development EDNRB signaling0.54
5Endothelins
Endothelins


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Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


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

1 BioSystems Pathway for EDN3
    Endothelins


2 Reactome Pathways for EDN3
    Peptide ligand-binding receptors
G alpha (q) signalling events


    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EDN3
Interactions:

    GeneGlobe Interaction Network for EDN3

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

Selected 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
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Gene Ontology (GO): Selected biological process terms (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

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(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 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]

Selected 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)



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(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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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hsa-miR-4303 hsa-miR-520d-5p hsa-miR-450b-3p hsa-miR-4314 hsa-miR-942 hsa-miR-513b hsa-miR-518a-5p hsa-miR-524-5p
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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 

Selected AceView cDNA sequences (see all 64):

BC008876 BM663176 BM672979 W96122 CK905827 W96123 S50866 BM505488 
CD723234 BC053866 BT007085 NM_000114 NM_207034 X52001 NM_207032 BX099047 
NM_207033 AI952334 AA553611 BG995148 S50864 W60669 AI590652 BM685342 

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™, 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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EDN3 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 6) fully expand
 
 Bone (Muscoskeletal System)    fully expand to see all 2 entries
         Zeugopod Growth Plate
 
 Dermis (Integumentary System)    fully expand to see all 2 entries
         Zigzag Dermal Papilla Cells Dermal Papilla
 
 Neural Tube (Nervous System)
         Floor plate-like cells
 
 Lung (Respiratory System)
         Alveolar type II cells
 
 Adipose (Muscoskeletal System)
         Interscapular Brown Adipose Depot
EDN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

EDN3 Protein Expression

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
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDN3

(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 EDN3 gene from Selected 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 76.1(n)1
66.83(a)1
  2 (98.10 cM)5
136161  NM_007903.41  NP_031929.11 
 1747606195 
chicken
(Gallus gallus)
Aves EDN31 endothelin 3 58.08(n)
53.89(a)
  768509  XM_001231487.3  XP_001231488.3 
lizard
(Anolis carolinensis)
Reptilia EDN36
endothelin 3
72(a)
1 ↔ 1
GL343569.1(56952-119638)
zebrafish
(Danio rerio)
Actinopterygii EDN3 (1 of 3)6
edn3b6
(see all 3)
endothelin 3b
(see all 3)
64(a)
33(a)
(see all 3)
many → 1
many → 1
(see all 3)
11(373396-381474) ENSDARG00000070925
23(12179208-12213067) ENSDARG00000086669


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)
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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

Find genes that share paralogs with EDN3           About GenesLikeMe



(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 EDN3 (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
----------
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
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--------
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

Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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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

  • 14 diseases for EDN3:    
    About MalaCards
    hirschsprung disease 4    waardenburg syndrome type ivb    edn3-related hirschsprung disease    waardenburg syndrome type iva
    waardenburg's syndrome    interstitial nephritis    varicose veins    congenital central hypoventilation syndrome
    hirschsprung's disease    central hypoventilation syndrome, congenital, with or without hirschsprung disease    central hypoventilation syndrome    danon disease
    hepatorenal syndrome    intestinal obstruction

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

    Find genes that share disorders with EDN3           About GenesLikeMe

    Selected 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)
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    PubMed articles for EDN3 gene, integrated from 10 sources (see all 523):
    (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. (Blood 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. (Nat. Genet. 1996)
    3. New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. (PubMed id 20009762)1, 4, 9 SA!nchez-MejA-as A....Borrego S. (Genet. Med. 2010)
    4. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. (PubMed id 12189494)1, 2, 9 Pingault V.... Goossens M. (Hum. Genet. 2002)
    5. The correlation of genetic markers with anatomoclinical and histopathological forms in Hirschsprung's disease. (PubMed id 20495744)1, 4, 9 BroascA8 V....Severin B. (Rom J Morphol Embryol 2010)
    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. Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients. (PubMed id 17009072)1, 4, 9 Sangkhathat S....Fukuzawa M. (J. Hum. Genet. 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. (J. Med. Genet. 2001)
    9. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. (PubMed id 9359047)1, 2, 9 Bidaud C....Lyonnet S. (Eur. J. Hum. Genet. 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. (Eur. J. Hum. Genet. 1997)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1908 HGNC: 3178 AceView: EDN3 Ensembl:ENSG00000124205 euGenes: HUgn1908
    ECgene: EDN3 H-InvDB: EDN3

    (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 EDN3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EDN3[genesymbol]
    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.)
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    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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