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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ENPP3 Gene

protein-coding   GIFtS: 63
GCID: GC06P132000

ectonucleotide pyrophosphatase/phosphodiesterase 3


(Previous symbol: PDNP3)
 Explore 13 diseases affiliated with
ENPP3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ENPP3    

Aliases
for ENPP3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ectonucleotide Pyrophosphatase/Phosphodiesterase 31 2     E-NPP 32 3
PDNP31 2 3 5     NPP32
B101 2     DJ1005H11.3 (Phosphodiesterase I/Nucleotide Pyrophosphatase 3)2
CD203c1 2     DJ914N13.3 (Phosphodiesterase I/Nucleotide Pyrophosphatase 3)2
PD-IBETA1 2     Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 32
Gp130RB13-61     Phosphodiesterase-I Beta2
Phosphodiesterase I Beta2 3     PD-Ibeta3
Phosphodiesterase I/Nucleotide Pyrophosphatase 32 3     CD203c Antigen3

External Ids:    HGNC: 33581   Entrez Gene: 51692   Ensembl: ENSG000001542697   OMIM: 6021825   UniProtKB: O146383   

Export aliases for ENPP3 gene to outside databases

Previous GC identifers: GC06P131617 GC06M131805 GC06P131893 GC06P131939 GC06P129540


Summaries
for ENPP3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ENPP3:
The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular
nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane
proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary
tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human
mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus,
basophils, and mast cells. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ENPP3_HUMAN, O14638
Function: Cleaves a variety of phosphodiester and phosphosulfate bonds including deoxynucleotides, nucleotide sugars,
and NAD (By similarity)

Gene Wiki entry for ENPP3


Genomic Views
for ENPP3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ENPP3 gene promoter:
         GR   HFH-3   AML1a   GR-beta   Lmo2   FOXI1   SRY   FOXO4   Sox9   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ENPP3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ENPP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ENPP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q22   Ensembl cytogenetic band:  6q23.2   HGNC cytogenetic band: 6q22

ENPP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ENPP3 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P132000:  view genomic region     (about GC identifiers)

Start:
 131,949,582 bp from pter      End:
 132,068,553 bp from pter
Size:
 118,972 bases      Orientation:
 plus strand

Proteins
for ENPP3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ENPP3_HUMAN, O14638 (See protein sequence)
Recommended Name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 3  
Size: 875 amino acids; 100124 Da
Cofactor: Binds 2 divalent metal cations per subunit (Probable)
Subcellular location: Membrane; Single-pass type II membrane protein (Potential). Secreted. Note=Located to the apical
surface in intestinal and kidney epithelial cells. Located to the cell surface of basophils, and to the apical plasma
membrane of bile duct cells. Secreted in serum, and in lumen of epithelial cells
Sequence caution: Sequence=AAD05192.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5JTL3

Explore the universe of human proteins at neXtProt for ENPP3: NX_O14638

Post-translational modifications:

  • N-glycosylation is necessary for correct trafficking to the apical surface, but is not the apical targeting signal (By
    • similarity)1
  • It has been suggested that the active SMB domain may be permitted considerable disulfide bond heterogeneity or
    • variability, thus two alternate disulfide patterns based on 3D structures are described with 1 disulfide bond
    conserved in both1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14638

    • ENPP3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005012.2  
    ENSEMBL proteins: 
     ENSP00000415589   ENSP00000406261   ENSP00000408642   ENSP00000350265   ENSP00000350964  
     ENSP00000440810   ENSP00000399269  

    Human Recombinant Protein Products: 
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    Uscn Proteins for ENPP3

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005887integral to plasma membrane TAS9344668
    GO:0048471perinuclear region of cytoplasm IDA10513816


    ENPP3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ENPP3

    Protein Domains /
    Families
    for ENPP3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ENPP3 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR002591 Phosphodiest/P_Trfase
     IPR001604 DNA/RNA_non-sp_Endonuclease
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR024873 E-NPP
     IPR020821 Extracellular_endonuc_su_A

    Graphical View of Domain Structure for InterPro Entry O14638

    ProtoNet protein and cluster: O14638

    2 Blocks protein families:
    IPB001212 Somatomedin B
    IPB002591 Type I phosphodiesterase/nucleotide pyrophosphatase


    UniProtKB/Swiss-Prot: ENPP3_HUMAN, O14638
    Similarity: Belongs to the nucleotide pyrophosphatase/phosphodiesterase family
    Similarity: Contains 2 SMB (somatomedin-B) domains


    Function
    for ENPP3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ENPP3_HUMAN, O14638
    Function: Cleaves a variety of phosphodiester and phosphosulfate bonds including deoxynucleotides, nucleotide sugars,
    and NAD (By similarity)
    Catalytic activity: Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of
    3'-hydroxy-terminated oligonucleotides
    Catalytic activity: A dinucleotide + H(2)O = 2 mononucleotides
    Enzyme regulation: At low concentrations of ATP, a phosphorylated active site intermediate is formed which inhibits
    further ATP hydrolysis
    Induction: Up-regulated by stimulation by allergen or by cross-linking with IgE. The IgE-mediated activation is
    enhanced by tetradecanoyl phorbol acetate (TPA), a stimulator of the PKC pathway, and inhibited by the P13 kinase
    inhibitors, LY294002 and wortmannin. Up-regulated in invasive bile duct cancers

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate ENPP3:
    hsa-miR-4311 hsa-miR-3121-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmid: ENPP3 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ENPP3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ENPP3

    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0003824catalytic activity ----
    GO:0004528phosphodiesterase I activity IEA--
    GO:0004551nucleotide diphosphatase activity TAS9344668
    GO:0005044scavenger receptor activity IEA--


    ENPP3 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ENPP3:
     Cell cycle / mitosis defect 


    Pathways & Interactions
    for ENPP3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NAD metabolism
    		NAD metabolism1.00
    		Nicotinate and nicotinamide metabolism0.43
    		NAD metabolism1.00
    2Riboflavin metabolism
    		Riboflavin metabolism1.00
    3Purine metabolism
    		Purine metabolism1.00
    4Glucuronidation
    		Starch and sucrose metabolism0.42
    5Vitamin B5 (pantothenate) metabolism
    		Pantothenate and CoA biosynthesis0.40

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ENPP3
        NAD metabolism


    1 GeneGo (Thomson Reuters) Pathway for ENPP3
        NAD metabolism


    5/6         Kegg Pathways  (Kegg details for ENPP3) (see all 6):
        Purine metabolism
    Starch and sucrose metabolism
    Riboflavin metabolism
    Nicotinate and nicotinamide metabolism
    Pantothenate and CoA biosynthesis


    ENPP3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ENPP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/41 Interacting proteins for ENPP3 (O146382, 3 ENSP000003502654) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629933I2D: score=1 
    ACPPENSP000003230364STRING: ENSP00000323036
    BST1ENSP000002650164STRING: ENSP00000265016
    CD38ENSP000002262794STRING: ENSP00000226279
    NADKENSP000003416794STRING: ENSP00000341679
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006796phosphate-containing compound metabolic process IDA10513816
    GO:0006955immune response IEA--
    GO:0009143nucleoside triphosphate catabolic process IDA10513816
    GO:0030505NOT inorganic diphosphate transport IDA10513816


    ENPP3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ENPP3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ENPP3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ENPP3

    10/17 HMDB Compounds for ENPP3 (see all 17)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine 3',5'-diphosphate3,5-Diphosphoadenosine (see all 10)1053-73-2--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Dephospho-CoA3'-O-dephosphono-Coenzyme A (see all 7)3633-59-8--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    Glucose 1-phosphateCori ester (see all 22)59-56-3--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Nicotinamide ribotide3-(aminocarbonyl)-1-(5-O-phosphono-b-D-ribofuranosyl)-Pyridinium hydroxide inner salt (see all 15)1094-61-7--
    Nicotinic acid adenine dinucleotideNAAD (see all 9)6450-77-7--
    3 Novoseek chemical compound relationships for ENPP3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    histamine 65.1 17 19418203 (3), 16751009 (3), 16940746 (3), 11815741 (2) (see all 9)
    allergens 55.5 7 12403934 (2), 17275019 (1), 12956749 (1), 16918511 (1) (see all 5)
    wortmannin 39.1 1 17624239 (1)

    Search CenterWatch for drugs/clinical trials and news about ENPP3 

    Transcripts
    for ENPP3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ENPP3 gene: 
    NM_005021.3  

    Unigene Cluster for ENPP3:

    Ectonucleotide pyrophosphatase/phosphodiesterase 3
    Hs.486489  [show with all ESTs]
    Unigene Representative Sequence: NM_005021
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000427707(uc010kfn.1) ENST00000414305(uc003qcu.4 uc003qcv.3 uc010kfq.3)
    ENST00000423831 ENST00000470930 ENST00000494023 ENST00000357639 ENST00000358229
    ENST00000543135(uc011ecc.1) ENST00000427148(uc010kfo.1 uc010kfp.1)


    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: ENPP3 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK024899.1 AK226107.1 AK292903.1 AK296080.1 AK309080.1 AK310691.1 AK315893.1 DQ234347.1 
    EF560735.1 

    4 DOTS entries:

    DT.110060  DT.121321943  DT.100742267  DT.100742266 

    24/45 AceView cDNA sequences (see all 45):

    BX098243 AI570172 AL696295 BX482253 AI539373 CF529367 BE463716 NM_005021 
    AI190925 AI758400 AA872930 AI589225 AL708614 AI872744 AI300713 AI685421 
    AK024899 AA034097 AW293070 AI219273 AI765324 AI862179 BQ010790 AA884920 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ENPP3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:              -     -                 -                                                                                                                     
    SP2:              -     -                 -                                                                                                           -         
    SP3:                    -                                                                                                                                       
    SP4:              -                                                                                                                                             

    ExUns: 26 ^ 27 ^ 28a · 28b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        


    ECgene alternative splicing isoforms for ENPP3

    Expression
    for ENPP3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ENPP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCACAGAAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ENPP3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    OvaryAntral FollicleMature Granulosa CellsOvary
    HeartAtrioventricular CanalHeart
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Primordial germ cell-like cells (Reconstitution of mo...)

    See ENPP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ENPP3

    SOURCE GeneReport for Unigene cluster: Hs.486489

    UniProtKB/Swiss-Prot: ENPP3_HUMAN, O14638
    Tissue specificity: Expressed in bile ducts, prostate, uterus and colon. Exclusively expressed on basophils, mast cells
    and their progenitors

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENPP3

    Orthologs
    for ENPP3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ENPP3 gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ENPP31 ectonucleotide pyrophosphatase/phosphodiesterase 3 68.96(n)
    67.05(a)    		   426928  XM_003641039.1  XP_003641087.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ENPP36
    		 --
    		 66(a)
    		 1 ↔ 1
    		 1(204215009-204269792)
    worm
    (Caenorhabditis elegans)    		 Secernentea C27A7.13 Human plasma-cell membrane glycoprotein PC-1
    like    		 33(a)
    (best of 2)    		   V(12134089-12139865)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G296901 alkaline-phosphatase-like protein 50.26(n)
    42.56(a)    		   829090  NM_119114.2  NP_194698.1 
    rice
    (Oryza sativa)    		 Liliopsida --
    		 ectonucleotide pyrophosphatase/phosphodiesterase f...
    		 34(a)
    		 1 → many
    		 1(5217542-5219398)


    ENSEMBL Gene Tree for ENPP3 (if available)
    TreeFam Gene Tree for ENPP3 (if available) 

    Paralogs
    for ENPP3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ENPP3 gene
    ENPP62  ENPP12  ENPP52  ENPP72  ENPP42  ENPP22  
    8 SIMAP similar genes for ENPP3 using alignment to 7 protein entries:     ENPP3_HUMAN (see all proteins):
    PDNP3    ENPP1    DKFZp686P13218    ENPP2    ENPP4    ENPP5
    ENPP6    ENPP7

    ENPP3 for paralogs           About GeneDecksing



    Genomic Variants
    for ENPP3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1746 NCBI SNPs in ENPP3 are shown (see all 1746)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs583971011,2
    		C,F,--131956565(+) GGTGAT/GCATGT 1 -- us2k13Minor allele frequency- G:0.07WA CSA 122
    rs1925768861,2
    		--131956604(+) CCTCCA/GTAATA 1 -- us2k10--------
    rs1843783591,2
    		--131956670(+) GTGCCC/GTTACA 1 -- us2k10--------
    rs1503685351,2
    		--131956781(+) GTGACA/GAGACA 1 -- us2k10--------
    rs1904395851,2
    		--131956792(+) GTCTTC/TGGGAG 1 -- us2k10--------
    rs1177912981,2
    		--131956868(+) CCACAC/TGTCCC 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs747648401,2
    		F,--131956921(+) AAAGGG/ATAAAA 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs1819040731,2
    		--131956982(+) ATTTGC/TCTGGT 1 -- us2k10--------
    rs800590061,2
    		--131957010(+) AGGGCC/TCGCTT 1 -- us2k10--------
    rs1136989111,2
    		--131957021(+) ATACAC/ACTGCT 1 -- us2k11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for ENPP3 (131949582 - 132068553 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for ENPP3
         9 CNVs: 69603 94012 81590 94013 69604 94015 32838 94014 81589
         1 Indel: 99708

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    Disorders / Diseases
    for ENPP3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ENPP3 for disorders           About GeneDecksing

    OMIM gene information: 602182    OMIM disorders: --

    13 diseases for ENPP3:    About MalaCards
    exercise induced anaphylaxis    bile duct disease    prostatitis    bile duct cancer
    urticaria    systemic mastocytosis    mastocytosis    myelodysplastic syndrome
    epididymitis    colon carcinoma    asthma    retinitis
    carcinoma

    5 Novoseek disease relationships for ENPP3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    idiopathic urticaria 74.4 4 16751009 (4)
    allergy 60.5 19 18331364 (4), 17275019 (3), 12403934 (3), 15031605 (3) (see all 5)
    anaphylaxis 33.6 4 18331364 (2)
    tumors 0 5 15072822 (2), 14533006 (1)
    cancer 0 3 14533006 (2), 15072822 (1)

    Human Genome Epidemiology (HuGE) Navigator: ENPP3 (1 document)

    Export disorders for ENPP3 gene to outside databases

    Publications
    for ENPP3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ENPP3 gene, integrated from 9 sources (see all 63):
    (articles sorted by number of sources associating them with ENPP3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and chromosomal localization of PD-Ibeta (PDNP3), a new member of the human phosphodiesterase I genes. (PubMed id 9344668)1, 2, 3, 9 Piao J.-H.... Sano K. (1997)
    2. Expression and localization of ecto-nucleotide pyrophosphatase/phosphodiesterase I-1 (E-NPP1/PC-1) and -3 (E- NPP3/CD203c/PD-Ibeta/B10/gp130(RB13-6)) in inflammatory and neoplastic bile duct diseases. (PubMed id 15072822)1, 2, 9 Yano Y.... Kasuga M. (2004)
    3. The basophil-specific ectoenzyme E-NPP3 (CD203c) as a marker for cell activation and allergy diagnosis. (PubMed id 15031605)1, 2, 9 Buehring H.J.... Valent P. (2004)
    4. The basophil activation marker defined by antibody 97A6 is identical to the ectonucleotide pyrophosphatase/phosphodiesterase 3. (PubMed id 11342463)1, 2, 9 Buehring H.J....Sano K. (2001)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. CD203c expression on human basophils is associated wi th asthma exacerbation. (PubMed id 20159259)1, 9 Ono E....Akiyama K. (2010)
    7. Expression and localization of ecto-nucleotide pyrophosphatase/phosphodiesterase I-3 (E-NPP3/CD203c/PD-I beta/B10/gp130RB13-6) in human colon carcinoma. (PubMed id 14533006)1, 9 Yano Y....Kasuga M. (2003)
    8. Flow cytometry for basophil activation markers: the measurement of CD203c up-regulation is as reliable as CD63 expression in the diagnosis of cat allergy. (PubMed id 17275019)1, 9 Ocmant A....Schandene L. (2007)
    9. Genomic structure and promoter analysis of the ecto-phosphodiesterase I gene (PDNP3) expressed in glial cells. (PubMed id 10524196)1, 9 Andoh K.... Sano K. (1999)
    10. Inhibition of CD203c membrane up-regulation in human basophils by high dilutions of histamine: a controlled replication study. (PubMed id 19418203)1, 9 Chirumbolo S....Bellavite P. (2009)

    External Searches for ENPP3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ENPP3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5169 HGNC: 3358 AceView: ENPP3 Ensembl:ENSG00000154269 euGenes: HUgn5169
    ECgene: ENPP3 Kegg: 5169 H-InvDB: ENPP3

    Other Databases showing ENPP3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ENPP3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ENPP3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ENPP3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ENPP3 gene:
    Search GeneIP for patents involving ENPP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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