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EDN3 (endothelin 3)

Identity

Other namesET-3
ET3
HSCR4
PPET3
WS4B
HGNC (Hugo) EDN3
LocusID (NCBI) 1908
Atlas_Id 50297
Location 20q13.32
Location_base_pair Starts at 57875482 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

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Waardenburg syndrome (WS)

External links

Nomenclature
HGNC (Hugo)EDN3   3178
Cards
Entrez_Gene (NCBI)EDN3  1908  endothelin 3
GeneCards (Weizmann)EDN3
Ensembl hg19 (Hinxton)ENSG00000124205 [Gene_View]  chr20:57875482-57901047 [Contig_View]  EDN3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000124205 [Gene_View]  chr20:57875482-57901047 [Contig_View]  EDN3 [Vega]
ICGC DataPortalENSG00000124205
TCGA cBioPortalEDN3
AceView (NCBI)EDN3
Genatlas (Paris)EDN3
WikiGenes1908
SOURCE (Princeton)EDN3
Genomic and cartography
GoldenPath hg19 (UCSC)EDN3  -     chr20:57875482-57901047 +  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 BF305608 BT007085 DN989853
RefSeq transcript (Entrez)NM_000114 NM_001302455 NM_001302456 NM_207032 NM_207033 NM_207034
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_008050 NT_011362 NW_004929418
Consensus coding sequences : CCDS (NCBI)EDN3
Cluster EST : UnigeneHs.1408 [ NCBI ]
CGAP (NCI)Hs.1408
Alternative Splicing GalleryENSG00000124205
Gene ExpressionEDN3 [ NCBI-GEO ]   EDN3 [ EBI - ARRAY_EXPRESS ]   EDN3 [ SEEK ]   EDN3 [ MEM ]
Gene Expression Viewer (FireBrowse)EDN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1908
GTEX Portal (Tissue expression)EDN3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14138 (Uniprot)
NextProtP14138  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14138
Splice isoforms : SwissVarP14138 (Swissvar)
PhosPhoSitePlusP14138
Domaine pattern : Prosite (Expaxy)ENDOTHELIN (PS00270)   
Domains : Interpro (EBI)Bibrotoxin/Sarafotoxin-D    Endothelin_toxin_CS    Endothln-like_toxin   
Domain families : Pfam (Sanger)Endothelin (PF00322)   
Domain families : Pfam (NCBI)pfam00322   
Domain families : Smart (EMBL)END (SM00272)  
DMDM Disease mutations1908
Blocks (Seattle)EDN3
SuperfamilyP14138
Human Protein AtlasENSG00000124205
Peptide AtlasP14138
HPRD00570
IPIIPI00025365   IPI00220210   IPI00410367   IPI00791973   
Protein Interaction databases
DIP (DOE-UCLA)P14138
IntAct (EBI)P14138
FunCoupENSG00000124205
BioGRIDEDN3
STRING (EMBL)EDN3
ZODIACEDN3
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  intracellular  cellular calcium ion homeostasis  signal transduction  cell surface receptor signaling pathway  cell-cell signaling  multicellular organism development  blood circulation  positive regulation of cell proliferation  positive regulation of heart rate  regulation of gene expression  cellular magnesium ion homeostasis  artery smooth muscle contraction  vein smooth muscle contraction  regulation of vasoconstriction  peptide hormone secretion  neuron differentiation  melanocyte differentiation  neutrophil chemotaxis  endothelin B receptor binding  vasoconstriction  positive regulation of MAP kinase activity  positive regulation of cell differentiation  positive regulation of mitotic nuclear division  positive regulation of hormone secretion  inositol phosphate-mediated signaling  regulation of developmental pigmentation  positive regulation of potassium ion transmembrane transport  
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  intracellular  cellular calcium ion homeostasis  signal transduction  cell surface receptor signaling pathway  cell-cell signaling  multicellular organism development  blood circulation  positive regulation of cell proliferation  positive regulation of heart rate  regulation of gene expression  cellular magnesium ion homeostasis  artery smooth muscle contraction  vein smooth muscle contraction  regulation of vasoconstriction  peptide hormone secretion  neuron differentiation  melanocyte differentiation  neutrophil chemotaxis  endothelin B receptor binding  vasoconstriction  positive regulation of MAP kinase activity  positive regulation of cell differentiation  positive regulation of mitotic nuclear division  positive regulation of hormone secretion  inositol phosphate-mediated signaling  regulation of developmental pigmentation  positive regulation of potassium ion transmembrane transport  
NDEx Network
Atlas of Cancer Signalling NetworkEDN3
Wikipedia pathwaysEDN3
Orthology - Evolution
OrthoDB1908
GeneTree (enSembl)ENSG00000124205
Phylogenetic Trees/Animal Genes : TreeFamEDN3
Homologs : HomoloGeneEDN3
Homology/Alignments : Family Browser (UCSC)EDN3
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerEDN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDN3
dbVarEDN3
ClinVarEDN3
1000_GenomesEDN3 
Exome Variant ServerEDN3
ExAC (Exome Aggregation Consortium)EDN3 (select the gene name)
Genetic variants : HAPMAP1908
Genomic Variants (DGV)EDN3 [DGVbeta]
Mutations
ICGC Data PortalEDN3 
TCGA Data PortalEDN3 
Broad Tumor PortalEDN3
OASIS PortalEDN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEDN3 
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
BioMutasearch EDN3
DgiDB (Drug Gene Interaction Database)EDN3
DoCM (Curated mutations)EDN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EDN3 (select a term)
intoGenEDN3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)20:57875482-57901047  ENSG00000124205
CONAN: Copy Number AnalysisEDN3 
Mutations and Diseases : HGMDEDN3
OMIM131242    209880    613265    613712   
MedgenEDN3
Genetic Testing Registry EDN3
NextProtP14138 [Medical]
TSGene1908
GENETestsEDN3
Huge Navigator EDN3 [HugePedia]
snp3D : Map Gene to Disease1908
BioCentury BCIQEDN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1908
Chemical/Pharm GKB GenePA27616
Clinical trialEDN3
Miscellaneous
canSAR (ICR)EDN3 (select the gene name)
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEDN3
EVEXEDN3
GoPubMedEDN3
iHOPEDN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun May 8 18:44:40 CEST 2016

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