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EDN3 (endothelin 3)

Identity

Other namesET-3
ET3
HSCR4
PPET3
WS4B
HGNC (Hugo) EDN3
LocusID (NCBI) 1908
Location 20q13.32
Location_base_pair Starts at 57875499 and ends at 57901047 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)EDN3   3178
Cards
Entrez_Gene (NCBI)EDN3  1908  endothelin 3
GeneCards (Weizmann)EDN3
Ensembl hg19 (Hinxton)ENSG00000124205 [Gene_View]  chr20:57875499-57901047 [Contig_View]  EDN3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000124205 [Gene_View]  chr20:57875499-57901047 [Contig_View]  EDN3 [Vega]
ICGC DataPortalENSG00000124205
cBioPortalEDN3
AceView (NCBI)EDN3
Genatlas (Paris)EDN3
WikiGenes1908
SOURCE (Princeton)EDN3
Genomic and cartography
GoldenPath hg19 (UCSC)EDN3  -     chr20:57875499-57901047 +  20q13.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EDN3  -     20q13.32   [Description]    (hg38-Dec_2013)
EnsemblEDN3 - 20q13.32 [CytoView hg19]  EDN3 - 20q13.32 [CytoView hg38]
Mapping of homologs : NCBIEDN3 [Mapview hg19]  EDN3 [Mapview hg38]
OMIM131242   209880   613265   613712   
Gene and transcription
Genbank (Entrez)BC008876 BC053866 BT007085 DQ096281 HQ447100
RefSeq transcript (Entrez)NM_000114 NM_207032 NM_207033 NM_207034
RefSeq genomic (Entrez)AC_000152 NC_000020 NC_018931 NG_008050 NT_011362 NW_001838667 NW_004929418
Consensus coding sequences : CCDS (NCBI)EDN3
Cluster EST : UnigeneHs.1408 [ NCBI ]
CGAP (NCI)Hs.1408
Alternative Splicing : Fast-db (Paris)GSHG0018874
Alternative Splicing GalleryENSG00000124205
Gene ExpressionEDN3 [ NCBI-GEO ]     EDN3 [ SEEK ]   EDN3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14138 (Uniprot)
NextProtP14138  [Medical]
With graphics : InterProP14138
Splice isoforms : SwissVarP14138 (Swissvar)
Domaine pattern : Prosite (Expaxy)ENDOTHELIN (PS00270)   
Domains : Interpro (EBI)Bibrotoxin/Sarafotoxin-D    Endothelin_toxin_CS    Endothln-like_toxin   
Related proteins : CluSTrP14138
Domain families : Pfam (Sanger)Endothelin (PF00322)   
Domain families : Pfam (NCBI)pfam00322   
Domain families : Smart (EMBL)END (SM00272)  
DMDM Disease mutations1908
Blocks (Seattle)P14138
Human Protein AtlasENSG00000124205
Peptide AtlasP14138
HPRD00570
IPIIPI00025365   IPI00220210   IPI00410367   IPI00791973   
Protein Interaction databases
DIP (DOE-UCLA)P14138
IntAct (EBI)P14138
FunCoupENSG00000124205
BioGRIDEDN3
IntegromeDBEDN3
STRING (EMBL)EDN3
Ontologies - Pathways
QuickGOP14138
Ontology : AmiGOneural crest cell migration  positive regulation of leukocyte chemotaxis  regulation of systemic arterial blood pressure by endothelin  receptor binding  hormone activity  extracellular region  extracellular space  signal transduction  cell surface receptor signaling pathway  cell-cell signaling  multicellular organismal development  blood circulation  positive regulation of cell proliferation  positive regulation of heart rate  artery smooth muscle contraction  vein smooth muscle contraction  regulation of vasoconstriction  peptide hormone secretion  neuron differentiation  melanocyte differentiation  neutrophil chemotaxis  vasoconstriction  positive regulation of MAP kinase activity  positive regulation of mitosis  positive regulation of hormone secretion  inositol phosphate-mediated signaling  regulation of developmental pigmentation  
Ontology : EGO-EBIneural crest cell migration  positive regulation of leukocyte chemotaxis  regulation of systemic arterial blood pressure by endothelin  receptor binding  hormone activity  extracellular region  extracellular space  signal transduction  cell surface receptor signaling pathway  cell-cell signaling  multicellular organismal development  blood circulation  positive regulation of cell proliferation  positive regulation of heart rate  artery smooth muscle contraction  vein smooth muscle contraction  regulation of vasoconstriction  peptide hormone secretion  neuron differentiation  melanocyte differentiation  neutrophil chemotaxis  vasoconstriction  positive regulation of MAP kinase activity  positive regulation of mitosis  positive regulation of hormone secretion  inositol phosphate-mediated signaling  regulation of developmental pigmentation  
Protein Interaction DatabaseEDN3
DoCM (Curated mutations)EDN3
Wikipedia pathwaysEDN3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerEDN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDN3
dbVarEDN3
ClinVarEDN3
1000_GenomesEDN3 
Exome Variant ServerEDN3
SNP (GeneSNP Utah)EDN3
SNP : HGBaseEDN3
Genetic variants : HAPMAPEDN3
Genomic VariantsEDN3  EDN3 [DGVbeta]
Mutations
ICGC Data PortalENSG00000124205 
Somatic Mutations in Cancer : COSMICEDN3 
CONAN: Copy Number AnalysisEDN3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)20:57875499-57901047
Mutations and Diseases : HGMDEDN3
OMIM131242    209880    613265    613712   
MedgenEDN3
NextProtP14138 [Medical]
GENETestsEDN3
Disease Genetic AssociationEDN3
Huge Navigator EDN3 [HugePedia]  EDN3 [HugeCancerGEM]
snp3D : Map Gene to Disease1908
DGIdb (Drug Gene Interaction db)EDN3
General knowledge
Homologs : HomoloGeneEDN3
Homology/Alignments : Family Browser (UCSC)EDN3
Phylogenetic Trees/Animal Genes : TreeFamEDN3
Chemical/Protein Interactions : CTD1908
Chemical/Pharm GKB GenePA27616
Clinical trialEDN3
Cancer Resource (Charite)ENSG00000124205
Other databases
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
CoreMineEDN3
GoPubMedEDN3
iHOPEDN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:19:06 CET 2014

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