The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase acti... See more...

Aliases for ENPP7 Gene

Aliases for ENPP7 Gene

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 7 2 3 5
  • Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 7 3 4
  • Alkaline Sphingomyelin Phosphodiesterase 3 4
  • Intestinal Alkaline Sphingomyelinase 3 4
  • Alkaline Sphingomyelinase 2 3
  • Alk-SMase 2 4
  • E-NPP 7 3 4
  • NPP-7 3 4
  • NPP7 2 3
  • EC 3.1.4.12 4
  • ALK-SMase 3
  • ENPP7 5

External Ids for ENPP7 Gene

Previous GeneCards Identifiers for ENPP7 Gene

  • GC17P078406
  • GC17P075319
  • GC17P077704
  • GC17P073145

Summaries for ENPP7 Gene

Entrez Gene Summary for ENPP7 Gene

  • The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]

GeneCards Summary for ENPP7 Gene

ENPP7 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 7) is a Protein Coding gene. Diseases associated with ENPP7 include Familial Adenomatous Polyposis and Colorectal Cancer. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include sphingomyelin phosphodiesterase activity. An important paralog of this gene is ENPP5.

UniProtKB/Swiss-Prot Summary for ENPP7 Gene

  • Choline-specific phosphodiesterase that hydrolyzes sphingomyelin releasing the ceramide and phosphocholine and therefore is involved in sphingomyelin digestion, ceramide formation, and fatty acid (FA) absorption in the gastrointestinal tract (PubMed:12885774, PubMed:12671034, PubMed:15205117, PubMed:16255717, PubMed:28292932). Has also phospholipase C activity and can also cleave phosphocholine from palmitoyl lyso-phosphatidylcholine and platelet-activating factor (PAF) leading to its inactivation (PubMed:16255717, PubMed:12885774). Does not have nucleotide pyrophosphatase activity (PubMed:12885774). May promote cholesterol absorption by affecting the levels of sphingomyelin derived from either diet or endogenous sources, in the intestinal lumen (By similarity).

Gene Wiki entry for ENPP7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENPP7 Gene

Genomics for ENPP7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ENPP7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J079730 Promoter/Enhancer 1.6 EPDnew ENCODE CraniofacialAtlas dbSUPER 265.7 +1.2 1151 3.9 BCLAF1 CEBPA YY1 MXD4 ZNF592 SIN3A NR2C1 IRF2 THAP11 FOXA2 ENPP7 HSALNG0119124 CBX2
GH17J079739 Promoter/Enhancer 1.6 ENCODE CraniofacialAtlas dbSUPER 8.3 +11.1 11131 6 ZNF654 ZNF600 SSRP1 KLF9 ZIC2 CHD4 MXD4 CTCF REST KLF11 ENPP7 HSALNG0119124 CBX2
GH17J079728 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 9.3 -2.2 -2225 1.3 SP1 SIX5 YY1 MXD4 REST ETS1 MBD2 MNT MAX ZNF217 ENPP7 piR-30879-002 RBFOX3
GH17J079719 Enhancer 1.1 Ensembl ENCODE dbSUPER 8.5 -9.2 -9237 3.8 ZIC2 FEZF1 ZNF341 THAP11 ZNF610 RAD21 PAX8 ETV4 SMC3 GABPB1 piR-30879-002 USP36 ENPP7 RBFOX3
GH17J079712 Enhancer 1 Ensembl ENCODE dbSUPER 0.4 -15.9 -15862 4.5 NFIC MAFF SMAD4 ETV4 ZNF316 MAFK SOX5 MAFG RBPJ MEIS2 SNODB1188 piR-34843-002 piR-49686-002 USP36 piR-30879-002 ENPP7 RBFOX3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENPP7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENPP7

Top Transcription factor binding sites by QIAGEN in the ENPP7 gene promoter:
  • Arnt
  • ARP-1
  • ATF6
  • Bach2
  • FAC1
  • HOXA5
  • STAT1
  • STAT1alpha
  • STAT1beta
  • XBP-1

Genomic Locations for ENPP7 Gene

Latest Assembly
chr17:79,730,919-79,742,926
(GRCh38/hg38)
Size:
12,008 bases
Orientation:
Plus strand

Previous Assembly
chr17:77,704,705-77,716,018
(GRCh37/hg19 by Entrez Gene)
Size:
11,314 bases
Orientation:
Plus strand

chr17:77,704,681-77,716,021
(GRCh37/hg19 by Ensembl)
Size:
11,341 bases
Orientation:
Plus strand

Genomic View for ENPP7 Gene

Genes around ENPP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENPP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENPP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENPP7 Gene

Proteins for ENPP7 Gene

  • Protein details for ENPP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWV6-ENPP7_HUMAN
    Recommended name:
    Ectonucleotide pyrophosphatase/phosphodiesterase family member 7
    Protein Accession:
    Q6UWV6
    Secondary Accessions:
    • Q6ZTS5
    • Q8IUS8

    Protein attributes for ENPP7 Gene

    Size:
    458 amino acids
    Molecular mass:
    51494 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Decreased levels of alkaline sphingomyelin phosphodiesterase may be associated with colon cancer.

    Three dimensional structures from OCA and Proteopedia for ENPP7 Gene

neXtProt entry for ENPP7 Gene

Post-translational modifications for ENPP7 Gene

  • N-glycosylated; required for activity and transport to the plasma membrane.
  • Glycosylation at Asn100, Asn121, Asn146, Asn168, and Asn267
  • Modification sites at PhosphoSitePlus

Other Protein References for ENPP7 Gene

No data available for DME Specific Peptides for ENPP7 Gene

Domains & Families for ENPP7 Gene

Gene Families for ENPP7 Gene

Protein Domains for ENPP7 Gene

Suggested Antigen Peptide Sequences for ENPP7 Gene

GenScript: Design optimal peptide antigens:
  • Intestinal alkaline sphingomyelinase (ENPP7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UWV6

UniProtKB/Swiss-Prot:

ENPP7_HUMAN :
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
Family:
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
genes like me logo Genes that share domains with ENPP7: view

Function for ENPP7 Gene

Molecular function for ENPP7 Gene

UniProtKB/Swiss-Prot Function:
Choline-specific phosphodiesterase that hydrolyzes sphingomyelin releasing the ceramide and phosphocholine and therefore is involved in sphingomyelin digestion, ceramide formation, and fatty acid (FA) absorption in the gastrointestinal tract (PubMed:12885774, PubMed:12671034, PubMed:15205117, PubMed:16255717, PubMed:28292932). Has also phospholipase C activity and can also cleave phosphocholine from palmitoyl lyso-phosphatidylcholine and platelet-activating factor (PAF) leading to its inactivation (PubMed:16255717, PubMed:12885774). Does not have nucleotide pyrophosphatase activity (PubMed:12885774). May promote cholesterol absorption by affecting the levels of sphingomyelin derived from either diet or endogenous sources, in the intestinal lumen (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a sphingomyelin + H2O = an N-acylsphing-4-enine + H(+) + phosphocholine; Xref=Rhea:RHEA:19253, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17636, ChEBI:CHEBI:52639, ChEBI:CHEBI:295975; EC=3.1.4.12; Evidence={ECO:0000269|PubMed:12671034, ECO:0000269|PubMed:12885774, ECO:0000269|PubMed:15205117, ECO:0000269|PubMed:16255717, ECO:0000269|PubMed:28292932};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = 1-hexadecanoyl-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:41119, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:72998, ChEBI:CHEBI:75542, ChEBI:CHEBI:295975; Evidence={ECO:0000269|PubMed:12885774};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = a 1-O-alkyl-2-acetyl-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:63380, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16291, ChEBI:CHEBI:36707, ChEBI:CHEBI:295975; Evidence={ECO:0000269|PubMed:16255717};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-octadecyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-octadecyl-2-acetyl-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:63384, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:52450, ChEBI:CHEBI:147296, ChEBI:CHEBI:295975; Evidence={ECO:0000250|UniProtKB:Q5EZ72};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited in a dose dependent manner by ATP, imidazole, orthovanadate and zinc ion. Not inhibited by ADP, AMP and EDTA.

Enzyme Numbers (IUBMB) for ENPP7 Gene

Phenotypes From GWAS Catalog for ENPP7 Gene

Gene Ontology (GO) - Molecular Function for ENPP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004767 sphingomyelin phosphodiesterase activity IEA,TAS --
GO:0005515 protein binding IPI 32296183
GO:0008081 phosphoric diester hydrolase activity IDA 16255717
GO:0008270 zinc ion binding IDA 28292932
genes like me logo Genes that share ontologies with ENPP7: view
genes like me logo Genes that share phenotypes with ENPP7: view

Animal Models for ENPP7 Gene

MGI Knock Outs for ENPP7:

Animal Models for research

  • Taconic Biosciences Mouse Models for ENPP7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENPP7

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ENPP7 Gene

Localization for ENPP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENPP7 Gene

Cell membrane. Single-pass type I membrane protein. Note=The catalytic domain is released into the extracellular medium when cells are treated with trypsin (PubMed:15205117). 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 (PubMed:12671034, PubMed:12885774). {ECO:0000269 PubMed:12671034, ECO:0000269 PubMed:12885774, ECO:0000269 PubMed:15205117}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENPP7 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
lysosome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ENPP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 12671034
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 15205117
GO:0005902 microvillus IDA 12671034
GO:0016020 membrane NAS 12885774
genes like me logo Genes that share ontologies with ENPP7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ENPP7 Gene

Pathways & Interactions for ENPP7 Gene

genes like me logo Genes that share pathways with ENPP7: view

Pathways by source for ENPP7 Gene

Gene Ontology (GO) - Biological Process for ENPP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006684 sphingomyelin metabolic process IDA 12671034
GO:0006685 sphingomyelin catabolic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008156 negative regulation of DNA replication IDA 12671034
genes like me logo Genes that share ontologies with ENPP7: view

No data available for SIGNOR curated interactions for ENPP7 Gene

Drugs & Compounds for ENPP7 Gene

(6) Drugs for ENPP7 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Ceramide NG Experimental Pharma 0

(149) Additional Compounds for ENPP7 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphorylcholine
  • Choline phosphate
  • CHOP
  • N-Trimethyl-2-aminoethylphosphonate
  • O-Phosphocholine
  • Phosphoryl-choline
3616-04-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3-O-Sulphogalactosylceramide (D18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3-O-Sulphogalactosylceramide (D18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3-O-Sulphogalactosylceramide (D18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3-O-Sulphogalactosylceramide (D18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
244215-65-4
genes like me logo Genes that share compounds with ENPP7: view

Transcripts for ENPP7 Gene

mRNA/cDNA for ENPP7 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENPP7

Alternative Splicing Database (ASD) splice patterns (SP) for ENPP7 Gene

No ASD Table

Relevant External Links for ENPP7 Gene

GeneLoc Exon Structure for
ENPP7

Expression for ENPP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ENPP7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENPP7 Gene

This gene is overexpressed in Liver (x29.3), Kidney - Cortex (x10.3), and Small Intestine - Terminal Ileum (x9.8).

Protein differential expression in normal tissues from HIPED for ENPP7 Gene

This gene is overexpressed in Pancreatic juice (60.5) and Fetal gut (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ENPP7 Gene



Protein tissue co-expression partners for ENPP7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENPP7

SOURCE GeneReport for Unigene cluster for ENPP7 Gene:

Hs.114084

mRNA Expression by UniProt/SwissProt for ENPP7 Gene:

Q6UWV6-ENPP7_HUMAN
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.

Evidence on tissue expression from TISSUES for ENPP7 Gene

  • Liver(4.3)
  • Intestine(2.7)
genes like me logo Genes that share expression patterns with ENPP7: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ENPP7 Gene

Orthologs for ENPP7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ENPP7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ENPP7 29 30
  • 98.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ENPP7 29 30
  • 83.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Enpp7 29
  • 83.33 (n)
Mouse
(Mus musculus)
Mammalia Enpp7 29 16 30
  • 83.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ENPP7 29 30
  • 83.1 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ENPP7 30
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ENPP7 29 30
  • 71.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ENPP7 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia enpp7 29
  • 64.46 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC557756 29
  • 60.76 (n)
ENPP7 (1 of 4) 30
  • 48 (a)
OneToMany
ENPP7 (4 of 4) 30
  • 48 (a)
OneToMany
enpp7 30 30
  • 47 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C01B10.9 30
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
OneToOne
Species where no ortholog for ENPP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ENPP7 Gene

ENSEMBL:
Gene Tree for ENPP7 (if available)
TreeFam:
Gene Tree for ENPP7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ENPP7: view image
Alliance of Genome Resources:
Additional Orthologs for ENPP7

Paralogs for ENPP7 Gene

Paralogs for ENPP7 Gene

(4) SIMAP similar genes for ENPP7 Gene using alignment to 2 proteins:

  • ENPP7_HUMAN
  • I3L3G5_HUMAN
genes like me logo Genes that share paralogs with ENPP7: view

Variants for ENPP7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENPP7 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs193920826 Uncertain Significance: Malignant tumor of prostate 79,731,207(+) C/T
NM_178543.5(ENPP7):c.68C>T (p.Pro23Leu)
MISSENSE
rs8074547 -- p.Leu4Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ENPP7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ENPP7 Gene

Variant ID Type Subtype PubMed ID
esv28226 CNV gain+loss 19812545
nsv952381 CNV deletion 24416366

Variation tolerance for ENPP7 Gene

Residual Variation Intolerance Score: 97.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.30; 70.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENPP7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENPP7
Leiden Open Variation Database (LOVD)
ENPP7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENPP7 Gene

Disorders for ENPP7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ENPP7 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
familial adenomatous polyposis
  • adenomatous polyposis of the colon
colorectal cancer
  • crc
- elite association - COSMIC cancer census association via MalaCards
Search ENPP7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ENPP7

genes like me logo Genes that share disorders with ENPP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENPP7 Gene

Publications for ENPP7 Gene

  1. Identification of human intestinal alkaline sphingomyelinase as a novel ecto-enzyme related to the nucleotide phosphodiesterase family. (PMID: 12885774) Duan RD … Nilsson A (The Journal of biological chemistry 2003) 2 3 4 22
  2. Intestinal alkaline sphingomyelinase hydrolyses and inactivates platelet-activating factor by a phospholipase C activity. (PMID: 16255717) Wu J … Duan RD (The Biochemical journal 2006) 3 4 22
  3. Functional studies of human intestinal alkaline sphingomyelinase by deglycosylation and mutagenesis. (PMID: 15458386) Wu J … Duan RD (The Biochemical journal 2005) 3 4 22
  4. 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. (PMID: 15016655) Wu J … Duan RD (Carcinogenesis 2004) 3 4 22
  5. Purification, localization, and expression of human intestinal alkaline sphingomyelinase. (PMID: 12671034) Duan RD … Nilsson A (Journal of lipid research 2003) 3 4 22

Products for ENPP7 Gene

Sources for ENPP7 Gene