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ENPP3 Gene

protein-coding   GIFtS: 67
GCID: GC06P131949

Ectonucleotide Pyrophosphatase/Phosphodiesterase 3


(Previous symbol: PDNP3)
  See ENPP3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ectonucleotide Pyrophosphatase/Phosphodiesterase 31 2     DJ914N13.3 (Phosphodiesterase I/Nucleotide Pyrophosphatase 3)2
PDNP31 2 3 5     Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 32
Phosphodiesterase I/Nucleotide Pyrophosphatase 32 3     gp130RB13-62
B102     Phosphodiesterase-I Beta2
CD203c2     PD-Ibeta3
NPP32     CD203c Antigen3
PD-IBETA2     E-NPP 33
DJ1005H11.3 (Phosphodiesterase I/Nucleotide Pyrophosphatase 3)2     Phosphodiesterase I Beta3

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 GC06P132000 GC06P129540


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ENPP3 Gene:
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)

GeneCards Summary for ENPP3 Gene:
ENPP3 (ectonucleotide pyrophosphatase/phosphodiesterase 3) is a protein-coding gene. Diseases associated with ENPP3 include sm-ahnmd, and bile duct disease. GO annotations related to this gene include polysaccharide binding and nucleic acid binding. An important paralog of this gene is ENPP6.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   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 plasmidENPP3 promoter sequence
   Search Chromatin IP Primers for ENPP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC06P131949:  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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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

Explore proteomics data for ENPP3 at MOPED

Post-translational modifications: 

  • N-glycosylation is necessary for correct trafficking to the apical surface, but is not the apical targeting signal
    (By similarity)1
  • Glycosylation2 at Asn236, Asn279, Asn290, Asn426, Asn533, Asn582, Asn594, Asn687, Asn699, Asn789
  • Modification sites at PhosphoSitePlus

  • See ENPP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

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    Sino Biological Cell Lysate for ENPP3
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    Cloud-Clone Corp. Proteins for ENPP3

     
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    Search eBioscience for ELISAs for ENPP3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    Selected InterPro protein domains (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 domains:
    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


    Find genes that share domains with ENPP3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 10):    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--
         
    Find genes that share ontologies with ENPP3           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ENPP3
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    3 qRT-PCR Assays for microRNAs that regulate ENPP3:
    hsa-miR-4311 hsa-miR-3121-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidENPP3 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ENPP3_HUMAN, O14638: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005887integral component of plasma membrane TAS9344668
    GO:0048471perinuclear region of cytoplasm IDA10513816
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with ENPP3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ENPP3 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Nicotinate and nicotinamide metabolism
    Nicotinate and nicotinamide metabolism0.43
    NAD metabolism0.43
    2Glucuronidation
    Starch and sucrose metabolism0.41
    3Purine metabolism (KEGG)
    Purine metabolism0.38
    4Metabolism
    Metabolic pathways0.38
    5Riboflavin metabolism
    Riboflavin metabolism


    Find genes that share SuperPaths with ENPP3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ENPP3
        NAD metabolism



    Selected 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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENPP3
    Interactions:

        Search GeneGlobe Interaction Network for ENPP3

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

    Selected Interacting proteins for ENPP3 (O146382, 3 ENSP000003502654) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629933I2D: score=1 
    ACPPENSP000003230364STRING: ENSP00000323036
    BST1ENSP000002650164STRING: ENSP00000265016
    CD38ENSP000002262794STRING: ENSP00000226279
    NADKENSP000003416794STRING: ENSP00000341679
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006796phosphate-containing compound metabolic process IDA10513816
    GO:0006955immune response IEA--
    GO:0008152metabolic process ----
    GO:0009143nucleoside triphosphate catabolic process IDA10513816
    GO:0030505NOT inorganic diphosphate transport IDA10513816

    Find genes that share ontologies with ENPP3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ENPP3

    Selected 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 inferred 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)



    Find genes that share compounds with ENPP3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)

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    hsa-miR-4311 hsa-miR-3121-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidENPP3 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat ENPP3
      QuantiFast Probe-based Assays in human, mouse, rat ENPP3

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 45):

    AI570172 AL696295 BX098243 CF529367 AI539373 BX482253 AI589225 AA872930 
    AI758400 AI862179 NM_005021 BE463716 AI300713 AI765324 AA034097 AI190925 
    AI872744 AK024899 AL708614 AI685421 AW293070 AI219273 AI200230 AW242992 

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ENPP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCACAGAAAG
    ENPP3 Expression
    About this image


    ENPP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 4 entries
             Mature Granulosa Cells Antral Follicle
             Oviduct
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             S-shaped Body
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
     
     Dermis (Integumentary System)
             Dermal Fibroblasts Dorsal Dermis
    ENPP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENPP3 Protein Expression

    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 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ENPP3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Enpp31 , 5 ectonucleotide pyrophosphatase/phosphodiesterase 31, 5 82.02(n)1
    80.99(a)1
      10 (12.26 cM)5
    2095581  NM_134005.21  NP_598766.21 
     247738145 
    chicken
    (Gallus gallus)
    Aves ENPP31 ectonucleotide pyrophosphatase/phosphodiesterase 3 68.84(n)
    66.82(a)
      426928  XM_003641039.2  XP_003641087.1 
    lizard
    (Anolis carolinensis)
    Reptilia ENPP36
    ectonucleotide pyrophosphatase/phosphodiesterase 3...
    66(a)
    1 ↔ 1
    1(204215009-204270725)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia enpp31 ectonucleotide pyrophosphatase/phosphodiesterase 3 65.2(n)
    63.28(a)
      100422808  XM_002936313.2  XP_002936359.2 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01103847.16
    Uncharacterized protein
    41(a)
    many ↔ many
    19(133804-136987) ENSDARG00000088491
    worm
    (Caenorhabditis elegans)
    Secernentea C27A7.13 Human plasma-cell membrane glycoprotein
    PC-1 like
    33(a)
    (best of 2)
      V(12134089-12139865)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NPP2(YEL016C)4 Nucleotide pyrophosphatase/phosphodiesterase family more   --   5(126218-124737) 856699  NP_010900.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G297001 AT4G29700 51.75(n)
    42.82(a)
      829091  NM_119115.2  NP_194699.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ENPP3 gene
    ENPP62  ENPP12  ENPP52  ENPP72  ENPP42  ENPP22  
    9 SIMAP similar genes for ENPP3 using alignment to 7 protein entries:     ENPP3_HUMAN (see all proteins):
    PDNP3    ENPP1    DKFZp686P13218    ZNF616    ENPP2    ENPP4
    ENPP5    ENPP6    ENPP7

    Find genes that share paralogs with ENPP3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ENPP3 (see all 2106)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs343044501,2
    C--129628294(+) AAAAA-/A/AA  
     
    /AAAAAA
    TTAGT
    2 -- int1 cds11NA 2
    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
    F--131956868(+) CCACAC/TGTCCC 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs747648401,2
    C,F--131956921(+) AAAGGG/ATAAAA 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs1819040731,2
    --131956982(+) ATTTGC/TCTGGT 1 -- us2k10--------
    rs800590061,2
    C--131957010(+) AGGGCC/TCGCTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ENPP3 (131949582 - 132068553 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ENPP3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv821228CNV Duplication20802225
    nsv471444CNV Duplication19718026
    esv1329374CNV Insertion17803354
    esv2637208CNV Insertion19546169
    dgv88n68CNV Loss17160897
    nsv7968CNV Loss18304495
    nsv886669CNV Gain21882294
    esv24430CNV Gain+Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ENPP3
    DNA2.0 Custom Variant and Variant Library Synthesis for ENPP3

    (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.)
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    OMIM gene information: 602182    OMIM disorders: --

    2 diseases for ENPP3:    
    About MalaCards
    sm-ahnmd    bile duct disease

    1 disease from the University of Copenhagen DISEASES database for ENPP3:
    SM-AHNMD

    Find genes that share disorders with ENPP3           About GenesLikeMe

    5 Novoseek inferred 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)

    Genetic Association Database (GAD): ENPP3
    Human Genome Epidemiology (HuGE) Navigator: ENPP3 (1 document)

    Export disorders for ENPP3 gene to outside databases

    (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)
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    PubMed articles for ENPP3 gene, integrated from 10 sources (see all 68):
    (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. (Genomics 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. (Cancer Lett. 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. (Int. Arch. Allergy Immunol. 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. (Blood 2001)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    7. CD203c expression on human basophils is associated with asthma exacerbation. (PubMed id 20159259)1, 9 Ono E....Akiyama K. (J. Allergy Clin. Immunol. 2010)
    8. 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. (Int. J. Mol. Med. 2003)
    9. 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....SchandenAc L. (J. Immunol. Methods 2007)
    10. 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. (Biochim. Biophys. Acta 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ENPP3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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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