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Aliases & Descriptions for EDN3
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ET-3 3 ET3 1 , 2 MGC15067 2 MGC61498 2 OTTHUMP00000031420 2 PPET3 3 Preproendothelin-3 3
Descriptions endothelin 3 2 truncated endothelin 3 2
Search outside databases for aliases for EDN3 genePrevious GC identifers: GC20P057603 GC20P058513 GC20P058560
Summaries for EDN3 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for EDN3 : The protein encoded by this gene is a member of the endothelin family. Endothelins areendothelium-derived vasoactive peptides involved in a variety of biological functions. The activeform of this protein is a 21 amino acid peptide processed from the precursor protein. The activepeptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelinwith EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytesand enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprungdisease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neuralcrest-derived cells. Four alternatively spliced transcript variants encoding three distinctisoforms have been observed. [provided by RefSeq] UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138 Function : Endothelins are endothelium-derived vasoconstrictor peptides
Gene Wiki entry for EDN3 (Endothelin_3)
Genomic Location for EDN3
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the EDN3 gene 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) GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure
GeneLoc location for GC20P057308:
(about GC identifiers )
Start:
57,308,877 bp from pter
End:
57,334,442 bp from pter
Size:
25,566 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000020.9 NT_011362.9 Proteins for EDN3
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138 (See
protein sequence )Recommended Name: Endothelin-3 precursor Size : 238 amino acids; 25454 Da
Subcellular location : Secreted
Secondary accessions : Q03229Alternative splicing : 2 isoforms : P14138-1 P14138-2
REFSEQ proteins (4 alternative transcripts):
NP_000105.1 NP_996915.1 NP_996916.1 NP_996917.1 ENSEMBL proteins: ENSP00000337128 ENSP00000379015 ENSP00000311854 ENSP00000360067 ENSP00000360064 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: EDN3 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for EDN3: Assays for EDN3:
Protein
Domains/ Families for EDN3(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P14138 ProtoNet protein and cluster: P14138
2 Blocks protein families : IPB003641 Endothelin IPB003642 Sarafotoxin/bibrotoxin UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138 Similarity : Belongs to the endothelin/sarafotoxin family
Gene Function for EDN3
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_000114 Applied Biosystems Silencer ® siRNAs for EDN3 Sigma-Aldrich siRNA and siRNA Panels for EDN3 Sigma-Aldrich shRNA for EDN3 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_000114                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_000114                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_000114  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000114 UniProtKB/Swiss-Prot: 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
6 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Edn3) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for EDN3
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for EDN3 5/28 Interacting proteins for EDN3 (ENSP00000360067 3 ) via UniProtKB, MINT, and/or STRING (see all 28
)About this table 5/16 Gene Ontology (GO) biological process terms (links to tree view) (see all 16
):
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Drugs & Compounds for EDN3 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Compounds for EDN3 available from Tocris Bioscience Compound Action
CAS
number BMS 182874 hydrochloride Highly selective, orally active non-peptide ETA antagonist [153042-42-3] BQ 788 sodium salt Selective ETB antagonist [156161-89-6] IRL-1620 Highly selective ETB agonist [142569-99-1] FR 139317 Highly potent, selective ETA antagonist [142375-60-8] BQ-123 Selective ETA antagonist [136553-81-6]
About this table 10/48 Novoseek chemical compound relationships for EDN3 gene (see all 48
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
sarafotoxin
95.32
127
2282471 (3), 7965709 (3), 9124371 (3), 1848560 (2) (see all 86 )
fr139317
88.48
5
9595416 (1), 9440503 (1), 9831924 (1), 7965709 (1)
bq 3020
83.52
2
8473300 (1), 8538918 (1)
irl 1620
83.42
7
8473300 (1), 7616437 (1), 9440503 (1), 8568666 (1) (see all 7 )
pd 142893
79.12
4
7616437 (1), 8786643 (1), 9272381 (1), 8216314 (1)
bq 485
73.08
1
9870082 (1)
bq610
63.24
1
10445306 (1)
calcium
40.35
91
7881751 (6), 8587346 (5), 8880069 (5), 7763261 (4) (see all 38 )
phosphoinositide
37.79
10
2159294 (1), 1681032 (1), 8226866 (1), 7509982 (1) (see all 7 )
inositol triphosphate
34.17
1
8447814 (1)
About this table
Transcripts for EDN3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_000114 Sigma-Aldrich siRNA and siRNA Panels for EDN3 Sigma-Aldrich shRNA for EDN3 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000114 NM_207032 NM_207033 NM_207034
REFSEQ mRNAs for EDN3 gene (4 alternative transcripts): NM_000114.2 NM_207032.1 NM_207033.1 NM_207034.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000114 NM_207032 NM_207033 NM_207034
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_000114                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_000114                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_000114  
Additional cDNA 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
):BC008876 BT007085 CK905827 NM_207034 CD723234 BM505488 X52001 BM672979 BM663176 NM_207033 S50866 BX099047 W96122 BC053866 NM_000114 NM_207032 W96123 AA553611 BM685342 AI590652 CK905826 AL546954 AA779341 T67005
highest scoring ESTs for EDN3 :J05081 X52001 AA551364 AA553611 AA700198 AA758487 AA779341 AI590652 AI676247 AI952334
Unigene Cluster for EDN3: Endothelin 3 Hs.1408 [show with all ESTs ] Unigene Representative Sequence: BC053866 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for EDN3 ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d SP1 :               -           SP2 :                         SP3 :             -   -           SP4 :             -   -          
About this scheme ECgene alternative splicing isoforms for EDN3 5 Ensembl transcripts including schematic representations : ENST00000337938
ENST00000395654
ENST00000311585
ENST00000371028
ENST00000371025
Expression for EDN3
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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EDN3 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for EDN3 1 / 2 / 3
6 probe-sets matching EDN3 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AGGAAATGAASOURCE GeneReport for Unigene cluster: Hs.1408 Expression variation in blood from EXPOLDB for EDN3
UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138 Tissue specificity : Expressed in trophoblasts and placental stem villi vessels, but not in culturedplacental smooth muscle cells
Orthologs for EDN3
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for EDN3 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for EDN3 ENSEMBL Gene Tree for EDN3 Paralogs for EDN3 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for EDN3 gene EDN2 2 EDN1 2
SNPs/Variants for EDN3 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for EDN3 (up to first 250kb)
Disorders & Mutations for EDN3
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 131242 disorders : 277580 209880 142623 UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138
Defects in EDN3 are the cause of Hirschsprung disease type 1 (HSCR1) [MIM:142623]; alsoknown as aganglionic megacolon. This genetic disorder of neural crest development is characterizedby the absence of intramural ganglion cells in the hindgut; often resulting in intestinalobstruction Defects in EDN3 are a cause of congenital central hypoventilation syndrome (CCHS)[MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. CCHS is arare disorder characterized by abnormal control of respiration in the absence of neuromuscular orlung disease, or an identifiable brain stem lesion. A deficiency in autonomic control ofrespiration results in inadequate or negligible ventilatory and arousal responses to hypercapniaand hypoxemia Defects in EDN3 are a cause of Waardenburg syndrome type IV (WS4) [MIM:277580]; also knownas Waardenburg-Shah syndrome. WS4 is characterized by the association of Waardenburg features(depigmentation and deafness) and the absence of enteric ganglia in the distal part of theintestine (Hirschsprung disease)
10/50 Novoseek disease relationships for EDN3 gene (see all 50
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
shah-waardenburg syndrome
87.85
7
8630503 (1), 11303518 (1), 9359047 (1), 9279758 (1) (see all 6 )
hirschsprung disease
85.35
48
10792313 (4), 14669347 (3), 9094028 (1), 19183406 (1) (see all 23 )
waardenburgs syndrome
81.81
4
8630503 (1), 9359047 (1), 9035203 (1)
colonic aganglionosis
59.73
5
8630503 (1), 9895385 (1), 10792313 (1)
central hypoventilation syndrome, congenital
53.48
1
8696331 (1)
subarachnoid hemorrhage
34.94
5
1983878 (2), 9385564 (1), 1410800 (1), 7815135 (1)
cerebral vasospasm
31.97
2
1983878 (2)
vasospasm
22.80
1
8301307 (1)
hypertension pulmonary
20.96
1
8431058 (1)
cirrhosis
20.63
30
8719927 (6), 7875671 (4), 7499784 (4), 8750167 (4) (see all 11 )
About this table GeneTests: EDN3 Hirschsprung Disease Human Gene Mutation Database : EDN3 Human Genome Epidemiology Navigator: EDN3 (1 document)
Medical News for EDN3 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for EDN3 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/477 PubMed articles for EDN3 gene (see all 477
): 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, 3, 4 Hofstra R.M.W.... Buys C.H.C.M. (1996) SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. (PubMed id 12189494) 1, 3, 4 Pingault V.... Goossens M. (2002) Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. (PubMed id 9359047) 1, 3, 4 Bidaud C....Lyonnet S. (1997) Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. (PubMed id 9359036) 1, 3, 4 Hofstra R.M.W.... Buys C.H.C.M. (1997) Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. (PubMed id 8696331) 1, 3, 4 Bolk S.... Chakravarti A. (1996) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052) 3, 4 Deloukas P....Rogers J. (2001) Endothelin-1 and ETA receptor expression in vascular smooth muscle cells from human placenta: a new ETA receptor messenger ribonucleic acid is generated by alternative splicing of exon 3. (PubMed id 9284755) 3, 4 Bourgeois C.... Ferre F. (1997) Solution structure of endothelin-3 determined using NMR spectroscopy. (PubMed id 1610811) 3, 4 Mills R.G.... King G.F. (1992) One of the endothelin gene family, endothelin 3 gene, is expressed in the placenta. (PubMed id 2178974) 3, 4 Onda H.... Fujino M. (1990)
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Genome Databases showing EDN3
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing EDN3
(According to HUGE )
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Specialized Databases showing EDN3 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=EDN3 NIEHS-SNPs http://egp.gs.washington.edu/data/edn3/
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-- Services for EDN3 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for EDN3:
Tocris compounds for EDN3
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009