Atlas of Genetics and Cytogenetics in Oncology and Haematology


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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 (Hinxton)ENSG00000124205 [Gene_View]  chr20:57875499-57901047 [Contig_View]  EDN3 [Vega]
ICGC DataPortalENSG00000124205
cBioPortalEDN3
AceView (NCBI)EDN3
Genatlas (Paris)EDN3
WikiGenes1908
SOURCE (Princeton)NM_000114 NM_207032 NM_207033 NM_207034
Genomic and cartography
GoldenPath (UCSC)EDN3  -  20q13.32   chr20:57875499-57901047 +  20q13.32   [Description]    (hg19-Feb_2009)
EnsemblEDN3 - 20q13.32 [CytoView]
Mapping of homologs : NCBIEDN3 [Mapview]
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 ]
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 [organisation]   Endothelin_toxin_CS [organisation]   Endothln-like_toxin [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP14138
HPRD00570
IPIIPI00025365   IPI00220210   IPI00410367   IPI00791973   
Protein Interaction databases
DIP (DOE-UCLA)P14138
IntAct (EBI)P14138
FunCoupENSG00000124205
BioGRIDEDN3
InParanoidP14138
Interologous Interaction database P14138
IntegromeDBEDN3
STRING (EMBL)EDN3
Ontologies - Pathways
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
Wikipedia pathwaysEDN3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EDN3
snp3D : Map Gene to Disease1908
SNP (GeneSNP Utah)EDN3
SNP : HGBaseEDN3
Genetic variants : HAPMAPEDN3
Exome VariantEDN3
1000_GenomesEDN3 
ICGC programENSG00000124205 
Somatic Mutations in Cancer : COSMICEDN3 
CONAN: Copy Number AnalysisEDN3 
Mutations and Diseases : HGMDEDN3
Mutations and Diseases : intOGenEDN3
Genomic VariantsEDN3  EDN3 [DGVbeta]
dbVarEDN3
ClinVarEDN3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM131242    209880    613265    613712   
MedgenEDN3
GENETestsEDN3
Disease Genetic AssociationEDN3
Huge Navigator EDN3 [HugePedia]  EDN3 [HugeCancerGEM]
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
iHOPEDN3
OncoSearchEDN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:45:23 CEST 2014

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