ENPP7 Gene
protein-coding GIFtS: 52
GCID: GC17P077704
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ectonucleotide pyrophosphatase/phosphodiesterase 7
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Aliases for ENPP7 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 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 | | Alk-SMase3 | | |
Export aliases for ENPP7 gene to outside databasesPrevious GC identifers: GC17P078406 GC17P075319 GC17P073145 |
Summaries for ENPP7 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: ENPP7_HUMAN, Q6UWV6Function: 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
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Genomic Views 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements: SABiosciences 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
Search SABiosciences Chromatin IP Primers for ENPP7
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 17q25.3ENPP7 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P077704: view genomic region
(about GC identifiers)
Start:
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77,704,681 bp from pter |
End:
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77,716,021 bp from pter |
Size:
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11,341 bases |
Orientation:
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plus strand |
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Proteins for ENPP7 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: ENPP7_HUMAN, Q6UWV6 (See
protein sequence)Recommended Name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 precursor Size: 458 amino acids; 51494 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential). Note=Localized at the surface of themicrovillar membrane in small intestine enterocytes, and in endosome-like structures situated beneath the microvillarmembrane, and in Golgi complex
Miscellaneous: Decreased levels of alkaline sphingomyelin phosphodiesterase may be associated with colon cancer
Secondary accessions: Q6ZTS5 Q8IUS8Explore the universe of human proteins at neXtProt for ENPP7: NX_Q6UWV6
Post-translational modifications:
N-glycosylated; required for activity and transport to the plasma membrane1
View neXtProt modification sites for NX_Q6UWV6 ENPP7 Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins: NP_848638.2 ENSEMBL proteins: ENSP00000332656 ENSP00000460429 Reactome Protein details: Q6UWV6 Human Recombinant Protein Products for ENPP7:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
ENPP7 for ontologies About GeneDecksing
ENPP7 Antibody Products: Assay Products for ENPP7: |
Protein
Domains / Families for ENPP7 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ENPP7 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q6UWV6ProtoNet protein and cluster: Q6UWV6 UniProtKB/Swiss-Prot: ENPP7_HUMAN, Q6UWV6Similarity: Belongs to the nucleotide pyrophosphatase/phosphodiesterase family |
Function for ENPP7 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: ENPP7_HUMAN, Q6UWV6Function: Converts sphingomyelin to ceramide. Also has phospholipase C activity toward palmitoyl lyso-phosphocholine.Does not appear to have nucleotide pyrophosphatase activityCatalytic activity: Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholineEnzyme regulation: Inhibited in a dose dependent manner by ATP, imidazole, orthovanadate and zinc ion. Not inhibited byADP, AMP and EDTA Enzyme Number (IUBMB): EC 3.1.4.121
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
ENPP7 for ontologies About GeneDecksing
Phenotypes: 7 GenomeRNAi human phenotypes for ENPP7: 4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Enpp7):
ENPP7 for phenotypes About GeneDecksing
Animal Models: Mouse knock-outs for ENPP7: Enpp7tm1Rudd Enpp7tm1Lex
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ENPP7 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ENPP7 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ENPP7 (NM_178543) | |  | Sino Biological Human cDNA Clone for ENPP7 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ENPP7 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENPP7  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENPP7 |
|
Pathways & Interactions for ENPP7 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  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Sphingolipid metabolism | | | 2 | Metabolism | | | 3 | sphingomyelin metabolism | |
Pathway sources See GeneCards unified pathways Show all pathways
1 BioSystems Pathway for ENPP7 
4
Reactome Pathways for ENPP7
2
Kegg Pathways (Kegg details for ENPP7):
ENPP7 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ENPP7
STRING Interaction
Network Preview (showing 5 interactants - click image to see 23)
 5/23 Interacting proteins for ENPP7 (Q6UWV63 ENSP000003326564) via UniProtKB, MINT, STRING, and/or I2D (see all 23)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
ENPP7 for ontologies About GeneDecksing
|
Drugs & Compounds for ENPP7 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
|
ENPP7 for compounds About GeneDecksing
Browse Tocris compounds for ENPP7
10/152 HMDB Compounds for ENPP7 (see all 152) About this table 9 Novoseek chemical compound relationships for ENPP7 gene About this table
Search CenterWatch for drugs/clinical trials and news about ENPP7 
|
Transcripts for ENPP7 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,
Sirion Biotech,
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 ENPP7 gene: NM_178543.3 Unigene Cluster for ENPP7: Ectonucleotide pyrophosphatase/phosphodiesterase 7 Hs.114084 [show with all ESTs]Unigene Representative Sequence: AK1262502 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000328313(uc002jxa.3) ENST00000576512
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ENPP7 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ENPP7 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ENPP7 (NM_178543) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ENPP7 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENPP7  |
Additional cDNA sequence: AK126250.1 AY230663.1 AY358622.1 BC041453.1 2 DOTS entries: DT.101980735 DT.101954128 12 AceView cDNA sequences: AY358622 NM_178543 AK128662 BI765770 AI640575 AK126250 AI469333 AY230663 BC041453 AA701973 AA702650 AA938521 GeneLoc Exon Structure
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Expression for ENPP7 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
| ENPP7 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GGAATAAAGG
 About this image See ENPP7 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ENPP7
SOURCE GeneReport for Unigene cluster: Hs.114084
UniProtKB/Swiss-Prot: ENPP7_HUMAN, Q6UWV6Tissue specificity: Detected in the colon (at protein level). Expressed in the duodenum, jejunum and liver and at lowlevels in the ileum. Expression was very low in the esophagus, stomach and colon SABiosciences Custom PCR Arrays for ENPP7
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ENPP7 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ENPP7 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENPP7 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENPP7 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENPP7 |
Orthologs for ENPP7 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 ENPP7 gene from 6/17 species (see all 17) About this table
ENSEMBL Gene Tree for ENPP7 (if available) TreeFam Gene Tree for ENPP7 (if available)  |
Paralogs for ENPP7 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for ENPP7 gene
- ENPP32 ENPP62 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
5/16 Pseudogenes.org Pseudogenes for ENPP7 (see all 16) PGOHUM00000242122 PGOHUM00000242342 PGOHUM00000242783 PGOHUM00000239318 PGOHUM00000248711
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Genomic Variants for ENPP7 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 17 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for ENPP7 (77704681 - 77716021 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for ENPP7 2 CNVs: 73051 0213  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ENPP7 |
|
Disorders
/ Diseases for ENPP7 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
|
ENPP7 for disorders About GeneDecksing
9 diseases for ENPP7: About MalaCardsfamilial adenomatous polyposis fanconi's anemia polyposis colon carcinoma colon cancer anemia carcinoma colorectal cancer cholesterol
10 Novoseek disease relationships for ENPP7 gene About this table
Export disorders for ENPP7 gene to outside databases
|
Publications for ENPP7 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 ENPP7 gene, integrated from 9 sources (see all 39): (articles sorted by number of sources associating them with ENPP7) | |  | Utopia: connect your pdf to the dynamic world of online information |
- 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. (2003)
- 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. (2004)
- Functional studies of human intestinal alkaline sphingomyelinase by deglycosylation and mutagenesis. (PubMed id 15458386)1, 2, 9 Wu J.... Duan R.-D. (2005)
- Purification, localization, and expression of human intestinal alkaline sphingomyelinase. (PubMed id 12671034)1, 2, 9 Duan R.-D.... Nilsson A. (2003)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
- 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. (2004)
- 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. (2003)
- Intestinal alkaline sphingomyelinase hydrolyses and inactivates platelet-activating factor by a phospholipase C activity. (PubMed id 16255717)1, 9 Wu J....Duan R.D. (2006)
- 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. (2005)
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External Searches for ENPP7 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ENPP7 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ENPP7 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ENPP7 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
|
|
About This Section
| 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
|
Products for ENPP7 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory) About This Section
|
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for ENPP7 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ENPP7 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ENPP7 | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for ENPP7 | | Browse 3'-UTR reporter clones for miRNA target validation | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ENPP7 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ENPP7 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | Search Tocris compounds for ENPP7 |
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 | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENPP7 |
|  |  |  |  | | | ThermoFisher Antibodies for ENPP7 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENPP7 |
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