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ENPP7 Gene

protein-coding   GIFtS: 52
GCID: GC17P077704

Ectonucleotide Pyrophosphatase/Phosphodiesterase 7

  See 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 71 2     ALK-SMase2
Alkaline Sphingomyelin Phosphodiesterase2 3     Alkaline Sphingomyelinase2
Intestinal Alkaline Sphingomyelinase2 3     Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 72
NPP-72 3     Alk-SMase3
E-NPP 72 3     EC 3.1.4.123

External Ids:    HGNC: 237641   Entrez Gene: 3392212   Ensembl: ENSG000001821567   UniProtKB: Q6UWV63   

Export aliases for ENPP7 gene to outside databases

Previous GC identifers: GC17P078406 GC17P075319 GC17P073145


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ENPP7 Gene:
ENPP7 (ectonucleotide pyrophosphatase/phosphodiesterase 7) is a protein-coding gene. Diseases associated with ENPP7 include familial adenomatous polyposis, and inflammatory bowel disease. GO annotations related to this gene include sphingomyelin phosphodiesterase activity. An important paralog of this gene is ENPP6.

UniProtKB/Swiss-Prot: ENPP7_HUMAN, Q6UWV6
Function: Converts sphingomyelin to ceramide. Also has phospholipase C activity toward palmitoyl
lyso-phosphocholine. Does not appear to have nucleotide pyrophosphatase activity

Gene Wiki entry for ENPP7 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:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ENPP7 gene promoter:
         STAT1   Bach2   STAT1beta   XBP-1   Arnt   STAT1alpha   FAC1   HOXA5   ARP-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidENPP7 promoter sequence
   Search Chromatin IP Primers for ENPP7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENPP7


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

ENPP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ENPP7 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P077704:  view genomic region     (about GC identifiers)

Start:
77,704,681 bp from pter      End:
77,716,021 bp from pter
Size:
11,341 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: ENPP7_HUMAN, Q6UWV6 (See protein sequence)
Recommended Name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 precursor  
Size: 458 amino acids; 51494 Da
Miscellaneous: Decreased levels of alkaline sphingomyelin phosphodiesterase may be associated with colon cancer
Secondary accessions: Q6ZTS5 Q8IUS8

Explore the universe of human proteins at neXtProt for ENPP7: NX_Q6UWV6

Explore proteomics data for ENPP7 at MOPED

Post-translational modifications: 

  • N-glycosylated; required for activity and transport to the plasma membrane1
  • Glycosylation2 at Asn100, Asn121, Asn146, Asn168, Asn267

  • See ENPP7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_848638.3  
    ENSEMBL proteins: 
     ENSP00000332656   ENSP00000460429  
    Reactome Protein details: Q6UWV6

    ENPP7 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals ENPP7 Protein
    Novus Biologicals ENPP7 Lysate
    Sino Biological Recombinant Protein for ENPP7
    Sino Biological Cell Lysate for ENPP7
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    ENPP7 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    ENPP7 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR002591 Phosphodiest/P_Trfase
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR024873 E-NPP
     IPR017850 Alkaline_phosphatase_core

    Graphical View of Domain Structure for InterPro Entry Q6UWV6

    ProtoNet protein and cluster: Q6UWV6

    UniProtKB/Swiss-Prot: ENPP7_HUMAN, Q6UWV6
    Similarity: Belongs to the nucleotide pyrophosphatase/phosphodiesterase family


    ENPP7 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ENPP7_HUMAN, Q6UWV6
    Function: Converts sphingomyelin to ceramide. Also has phospholipase C activity toward palmitoyl
    lyso-phosphocholine. Does not appear to have nucleotide pyrophosphatase activity
    Catalytic activity: Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine
    Enzyme regulation: Inhibited in a dose dependent manner by ATP, imidazole, orthovanadate and zinc ion. Not
    inhibited by ADP, AMP and EDTA

         Enzyme Number (IUBMB): EC 3.1.4.121

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004767sphingomyelin phosphodiesterase activity IDA12671034
    GO:0046872metal ion binding ----
         
    ENPP7 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for ENPP7:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Decreased focal adhesion (FA)  
     Decreased nuclei size in G2M  Increased HPV18 LCR reporter a  Low eccentricity cells 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Enpp7):
     digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism  tumorigenesis 

    ENPP7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ENPP7: Enpp7tm1Rudd Enpp7tm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ENPP7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ENPP7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ENPP7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ENPP7

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidENPP7 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ENPP7

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ENPP7 (NM_178543)
    Sino Biological Human cDNA Clone for ENPP7
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENPP7

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENPP7


    (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
    ENPP7_HUMAN, Q6UWV6: Membrane; Single-pass type I membrane protein (Potential). Note=Localized at the surface of
    the microvillar membrane in small intestine enterocytes, and in endosome-like structures situated beneath the
    microvillar membrane, and in Golgi complex
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane4
    endosome1
    extracellular1
    lysosome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IDA12671034
    GO:0005886plasma membrane TAS--
    GO:0005902microvillus IDA12671034
    GO:0016020membrane NAS12885774
    GO:0016021integral component of membrane IEA--

    ENPP7 for ontologies           About GeneDecksing


    (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 ENPP7 About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3sphingomyelin metabolism/ceramide salvage
    sphingomyelin metabolism/ceramide salvage

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ENPP7
        sphingomyelin metabolism/ceramide salvage


    1 Reactome Pathway for ENPP7
        Glycosphingolipid metabolism


    2 Kegg Pathways  (Kegg details for ENPP7):
        Sphingolipid metabolism
    Metabolic pathways


    ENPP7 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENPP7
    Interactions:

        Search GeneGlobe Interaction Network for ENPP7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for ENPP7 (Q6UWV63 ENSP000003326564) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ACER1ENSP000003014524STRING: ENSP00000301452
    ACER2ENSP000003426094STRING: ENSP00000342609
    ASAH1ENSP000003711524STRING: ENSP00000371152
    ASAH2ENSP000003788974STRING: ENSP00000378897
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006684sphingomyelin metabolic process IDA12671034
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0008156negative regulation of DNA replication IDA12671034

    ENPP7 for ontologies           About GeneDecksing



    (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 ENPP7

    Selected HMDB Compounds for ENPP7 (see all 152)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

    9 Novoseek inferred chemical compound relationships for ENPP7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    npps 81.2 1 12885774 (1)
    ceramide 78.2 7 17490747 (1), 18353542 (1), 16255717 (1), 18354751 (1) (see all 5)
    sphingosine 69.2 5 16963225 (1), 18354751 (1), 19027789 (1), 16251722 (1)
    glycocholate 67.9 1 9508530 (1)
    phosphorylcholine 65.6 2 12885774 (1), 16255717 (1)
    taurocholate 63.3 1 9508530 (1)
    lysophosphatidylcholine 48 1 12885774 (1)
    phosphatidylcholine 34 1 9328299 (1)
    cholesterol 11.1 2 15708357 (1)



    ENPP7 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ENPP7 gene: 
    NM_178543.4  

    Unigene Cluster for ENPP7:

    Ectonucleotide pyrophosphatase/phosphodiesterase 7
    Hs.114084  [show with all ESTs]
    Unigene Representative Sequence: AK126250
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000328313(uc002jxa.3) ENST00000576512
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat ENPP7

    Additional mRNA sequence: 

    AK126250.1 AY230663.1 AY358622.1 BC041453.1 

    2 DOTS entries:

    DT.101980735  DT.101954128 

    12 AceView cDNA sequences:

    AK128662 AY358622 NM_178543 AK126250 BC041453 BI765770 AI640575 AI469333 
    AY230663 AA701973 AA702650 AA938521 

    GeneLoc Exon Structure


    (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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    ENPP7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAATAAAGG
    ENPP7 Expression
    About this image

    ENPP7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENPP7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.114084

    UniProtKB/Swiss-Prot: ENPP7_HUMAN, Q6UWV6
    Tissue specificity: Detected in the colon (at protein level). Expressed in the duodenum, jejunum and liver and at
    low levels in the ileum. Expression was very low in the esophagus, stomach and colon

        Custom PCR Arrays for ENPP7
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENPP7

    (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 animals.

    Orthologs for ENPP7 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Enpp71 , 5 ectonucleotide pyrophosphatase/phosphodiesterase 71, 5 83.25(n)1
    84.09(a)1
      11 (83.33 cM)5
    2380111  NM_001030291.11  NP_001025462.11 
     1189882165 
    chicken
    (Gallus gallus)
    Aves ENPP71 ectonucleotide pyrophosphatase/phosphodiesterase 7 71.96(n)
    67.51(a)
      426249  XM_423912.4  XP_423912.3 
    lizard
    (Anolis carolinensis)
    Reptilia ENPP76
    ectonucleotide pyrophosphatase/phosphodiesterase 7...
    65(a)
    1 ↔ 1
    2(101017189-101035993)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia enpp71 ectonucleotide pyrophosphatase/phosphodiesterase 7 64.46(n)
    65.05(a)
      100422804  NM_001178066.1  NP_001171537.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5577561 ectonucleotide pyrophosphatase/phosphodiesterase 7-like 60.76(n)
    58.59(a)
      557756  NM_001256805.1  NP_001243734.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C01B10.96
    Protein C01B10.9 (C01B10.9) mRNA, complete cds
    19(a)
    1 → many
    IV(6632222-6634998) WBGene00015283


    ENSEMBL Gene Tree for ENPP7 (if available)
    TreeFam Gene Tree for ENPP7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ENPP7 gene
    ENPP62  ENPP32  ENPP12  ENPP52  ENPP42  ENPP22  
    4 SIMAP similar genes for ENPP7 using alignment to 2 protein entries:     ENPP7_HUMAN (see all proteins):
    ENPP5    ENPP4    ENPP6    ENPP3

    ENPP7 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for ENPP7 (see all 16)
    PGOHUM00000242122 PGOHUM00000242342 PGOHUM00000242783 PGOHUM00000239318 PGOHUM00000248711


    (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 ENPP7 (see all 454)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1406008501,2
    --77702925(+) AGCCAA/GACCTC 1 -- us2k10--------
    rs1890524731,2
    --77702980(+) GTGGTG/TGCAGG 1 -- us2k10--------
    rs1929471381,2
    --77703118(+) CGTACA/CAGTGG 1 -- us2k10--------
    rs99104291,2
    C,F,A,H--77703172(+) GCTGTG/AGACGG 1 -- us2k112Minor allele frequency- A:0.48NA WA CSA EA 375
    rs568860071,2
    --77703203(+) TGCCAC/TGGCCA 1 -- us2k10--------
    rs1141522931,2
    F--77703220(+) CGAGAC/TGGCGT 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1450374611,2
    --77703381(+) TCCAGC/TGCACC 1 -- us2k10--------
    rs1177753721,2
    F--77703557(+) ATGGAG/AAGTAT 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs116535771,2
    C,F,A,H--77703608(+) AACCCG/CCGCCT 1 -- us2k112Minor allele frequency- C:0.50NA WA CSA EA 375
    rs1847473281,2
    --77703748(+) CTCAGC/TGAGAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ENPP7 (77704681 - 77716021 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ENPP7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908948CNV Loss21882294
    dgv3292n71CNV Loss21882294
    nsv483050CNV Loss15286789
    nsv908947CNV Loss21882294
    esv28226CNV Gain+Loss19812545

    Site Specific Mutation Identification with PCR Assays
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    (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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    6 diseases for ENPP7:    
    About MalaCards
    familial adenomatous polyposis    inflammatory bowel disease    fanconi's anemia    adenoma
    colorectal cancer    adenocarcinoma


    ENPP7 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for ENPP7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colon cancer 61.9 10 15016655 (2), 10522612 (2), 16631405 (1), 16255717 (1) (see all 5)
    familial adenomatous polyposis 55.1 2 12774245 (1), 10496347 (1)
    colon carcinoma 43.3 1 12920578 (1)
    adenoma 42.3 4 10496347 (3), 9508530 (1)
    colorectal carcinoma 27.6 1 9028353 (1)
    inflammatory bowel diseases 18.4 1 16631405 (1)
    adenocarcinoma 14.1 2 15824156 (1), 10496347 (1)
    cancer 1.5 1 9508530 (1)
    tumors 0 8 12774245 (2), 15824156 (2)
    carcinoma 0 1 9508530 (1)


    Export disorders for ENPP7 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 ENPP7 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with ENPP7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of human intestinal alkaline sphingomyelinase as a novel ecto-enzyme related to the nucleotide phosphodiesterase family. (PubMed id 12885774)1, 2, 3, 9 Duan R.-D.... Nilsson A. (J. Biol. Chem. 2003)
    2. Identification of one exon deletion of intestinal alkaline sphingomyelinase in colon cancer HT-29 cells and a differentiation- related expression of the wild-type enzyme in Caco-2 cells. (PubMed id 15016655)1, 2, 9 Wu J.... Duan R.-D. (Carcinogenesis 2004)
    3. Functional studies of human intestinal alkaline sphingomyelinase by deglycosylation and mutagenesis. (PubMed id 15458386)1, 2, 9 Wu J.... Duan R.-D. (Biochem. J. 2005)
    4. Purification, localization, and expression of human intestinal alkaline sphingomyelinase. (PubMed id 12671034)1, 2, 9 Duan R.-D.... Nilsson A. (J. Lipid Res. 2003)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    9. Intestinal alkaline sphingomyelinase hydrolyses and inactivates platelet-activating factor by a phospholipase C activity. (PubMed id 16255717)1, 9 Wu J....Duan R.D. (Biochem. J. 2006)
    10. Cloning of alkaline sphingomyelinase from rat intestinal mucosa and adjusting of the hypothetical protein XP_221184 in GenBank. (PubMed id 15708357)1, 9 Wu J....Duan R.D. (Biochim. Biophys. Acta 2005)

    (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: 339221 HGNC: 23764 AceView: ENPP7 Ensembl:ENSG00000182156 euGenes: HUgn339221
    ECgene: ENPP7 Kegg: 339221 H-InvDB: ENPP7

    (According to HUGE)
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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 ENPP7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ENPP7 Genetics and Cytogenetics in Oncology and Haematology

    (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 ENPP7 gene:
    Search GeneIP for patents involving ENPP7

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



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