Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ENPP3 (ectonucleotide pyrophosphatase/phosphodiesterase 3)

Identity

Alias_namesPDNP3
Alias_symbol (synonym)PD-IBETA
gp130RB13-6
B10
CD203c
Other aliasNPP3
HGNC (Hugo) ENPP3
LocusID (NCBI) 5169
Atlas_Id 44005
Location 6q23.2  [Link to chromosome band 6q23]
Location_base_pair Starts at 131958375 and ends at 132068550 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RP4-761I2.2 () / ENPP3 (6q23.2)YWHAQ (2p25.1) / ENPP3 (6q23.2)RP4-761I2.2 ENPP3 6q23.2

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)ENPP3   3358
Cards
Entrez_Gene (NCBI)ENPP3  5169  ectonucleotide pyrophosphatase/phosphodiesterase 3
AliasesB10; CD203c; NPP3; PD-IBETA; 
PDNP3
GeneCards (Weizmann)ENPP3
Ensembl hg19 (Hinxton)ENSG00000154269 [Gene_View]  chr6:131958375-132068550 [Contig_View]  ENPP3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000154269 [Gene_View]  chr6:131958375-132068550 [Contig_View]  ENPP3 [Vega]
ICGC DataPortalENSG00000154269
TCGA cBioPortalENPP3
AceView (NCBI)ENPP3
Genatlas (Paris)ENPP3
WikiGenes5169
SOURCE (Princeton)ENPP3
Genetics Home Reference (NIH)ENPP3
Genomic and cartography
GoldenPath hg19 (UCSC)ENPP3  -     chr6:131958375-132068550 +  6q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ENPP3  -     6q23.2   [Description]    (hg38-Dec_2013)
EnsemblENPP3 - 6q23.2 [CytoView hg19]  ENPP3 - 6q23.2 [CytoView hg38]
Mapping of homologs : NCBIENPP3 [Mapview hg19]  ENPP3 [Mapview hg38]
OMIM602182   
Gene and transcription
Genbank (Entrez)AK024899 AK226107 AK292903 AK296080 AK309080
RefSeq transcript (Entrez)NM_005021
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_033982 NT_025741 NW_004929328
Consensus coding sequences : CCDS (NCBI)ENPP3
Cluster EST : UnigeneHs.486489 [ NCBI ]
CGAP (NCI)Hs.486489
Alternative Splicing GalleryENSG00000154269
Gene ExpressionENPP3 [ NCBI-GEO ]   ENPP3 [ EBI - ARRAY_EXPRESS ]   ENPP3 [ SEEK ]   ENPP3 [ MEM ]
Gene Expression Viewer (FireBrowse)ENPP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5169
GTEX Portal (Tissue expression)ENPP3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14638   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14638  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14638
Splice isoforms : SwissVarO14638
Catalytic activity : Enzyme3.1.4.1 [ Enzyme-Expasy ]   3.1.4.13.1.4.1 [ IntEnz-EBI ]   3.1.4.1 [ BRENDA ]   3.1.4.1 [ KEGG ]   
PhosPhoSitePlusO14638
Domaine pattern : Prosite (Expaxy)SMB_1 (PS00524)    SMB_2 (PS50958)   
Domains : Interpro (EBI)Alkaline_Pase-like_a/b/a    Alkaline_phosphatase_core    DNA/RNA_non-sp_Endonuclease    E-NPP    ENPP3    Extracellular_endonuc_su_A    Phosphodiest/P_Trfase    Somatomedin_B_dom   
Domain families : Pfam (Sanger)Endonuclease_NS (PF01223)    Phosphodiest (PF01663)    Somatomedin_B (PF01033)   
Domain families : Pfam (NCBI)pfam01223    pfam01663    pfam01033   
Domain families : Smart (EMBL)Endonuclease_NS (SM00892)  NUC (SM00477)  SO (SM00201)  
Conserved Domain (NCBI)ENPP3
DMDM Disease mutations5169
Blocks (Seattle)ENPP3
SuperfamilyO14638
Human Protein AtlasENSG00000154269
Peptide AtlasO14638
HPRD03715
IPIIPI00020999   IPI00478342   IPI01014293   IPI00924646   IPI00896431   
Protein Interaction databases
DIP (DOE-UCLA)O14638
IntAct (EBI)O14638
FunCoupENSG00000154269
BioGRIDENPP3
STRING (EMBL)ENPP3
ZODIACENPP3
Ontologies - Pathways
QuickGOO14638
Ontology : AmiGOnucleic acid binding  phosphodiesterase I activity  nucleotide diphosphatase activity  scavenger receptor activity  integral component of plasma membrane  phosphate-containing compound metabolic process  receptor-mediated endocytosis  immune response  nucleoside triphosphate catabolic process  polysaccharide binding  inorganic diphosphate transport  NADH pyrophosphatase activity  metal ion binding  nucleoside-triphosphate diphosphatase activity  perinuclear region of cytoplasm  extracellular exosome  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBInucleic acid binding  phosphodiesterase I activity  nucleotide diphosphatase activity  scavenger receptor activity  integral component of plasma membrane  phosphate-containing compound metabolic process  receptor-mediated endocytosis  immune response  nucleoside triphosphate catabolic process  polysaccharide binding  inorganic diphosphate transport  NADH pyrophosphatase activity  metal ion binding  nucleoside-triphosphate diphosphatase activity  perinuclear region of cytoplasm  extracellular exosome  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  
Pathways : KEGGPurine metabolism    Starch and sucrose metabolism    Riboflavin metabolism    Nicotinate and nicotinamide metabolism    Pantothenate and CoA biosynthesis   
NDEx NetworkENPP3
Atlas of Cancer Signalling NetworkENPP3
Wikipedia pathwaysENPP3
Orthology - Evolution
OrthoDB5169
GeneTree (enSembl)ENSG00000154269
Phylogenetic Trees/Animal Genes : TreeFamENPP3
HOVERGENO14638
HOGENOMO14638
Homologs : HomoloGeneENPP3
Homology/Alignments : Family Browser (UCSC)ENPP3
Gene fusions - Rearrangements
Fusion: TCGARP4-761I2.2 ENPP3 6q23.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerENPP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ENPP3
dbVarENPP3
ClinVarENPP3
1000_GenomesENPP3 
Exome Variant ServerENPP3
ExAC (Exome Aggregation Consortium)ENPP3 (select the gene name)
Genetic variants : HAPMAP5169
Genomic Variants (DGV)ENPP3 [DGVbeta]
DECIPHER (Syndromes)6:131958375-132068550  ENSG00000154269
CONAN: Copy Number AnalysisENPP3 
Mutations
ICGC Data PortalENPP3 
TCGA Data PortalENPP3 
Broad Tumor PortalENPP3
OASIS PortalENPP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICENPP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDENPP3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ENPP3
DgiDB (Drug Gene Interaction Database)ENPP3
DoCM (Curated mutations)ENPP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ENPP3 (select a term)
intoGenENPP3
Cancer3DENPP3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602182   
Orphanet
MedgenENPP3
Genetic Testing Registry ENPP3
NextProtO14638 [Medical]
TSGene5169
GENETestsENPP3
Huge Navigator ENPP3 [HugePedia]
snp3D : Map Gene to Disease5169
BioCentury BCIQENPP3
ClinGenENPP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5169
Chemical/Pharm GKB GenePA27793
Clinical trialENPP3
Miscellaneous
canSAR (ICR)ENPP3 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineENPP3
EVEXENPP3
GoPubMedENPP3
iHOPENPP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:04:45 CET 2017

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