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 prote... See more...

Aliases for ENPP3 Gene

Aliases for ENPP3 Gene

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 3 2 3 5
  • Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 3 3 4
  • Phosphodiesterase I/Nucleotide Pyrophosphatase 3 3 4
  • PDNP3 3 4
  • NPP3 3 4
  • DJ1005H11.3 (Phosphodiesterase I/Nucleotide Pyrophosphatase 3) 3
  • DJ914N13.3 (Phosphodiesterase I/Nucleotide Pyrophosphatase 3) 3
  • Phosphodiesterase-I Beta 3
  • Phosphodiesterase I Beta 4
  • CD203c Antigen 4
  • Gp130RB13-6 3
  • PD-IBETA 3
  • PD-Ibeta 4
  • E-NPP 3 4
  • CD203c 3
  • B10 3

External Ids for ENPP3 Gene

Previous HGNC Symbols for ENPP3 Gene

  • PDNP3

Previous GeneCards Identifiers for ENPP3 Gene

  • GC06M131805
  • GC06P131893
  • GC06P131939
  • GC06P132000
  • GC06P129540
  • GC06P131949

Summaries for ENPP3 Gene

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. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for ENPP3 Gene

ENPP3 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 3) is a Protein Coding gene. Diseases associated with ENPP3 include Amoxicillin Allergy and Nut Allergy. Among its related pathways are NAD metabolism and Riboflavin metabolism. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and scavenger receptor activity. An important paralog of this gene is ENPP1.

UniProtKB/Swiss-Prot Summary for ENPP3 Gene

  • Hydrolase that metabolizes extracellular nucleotides, including ATP, GTP, UTP and CTP (PubMed:29717535). Limits mast cell and basophil responses during inflammation and during the chronic phases of allergic responses by eliminating the extracellular ATP that functions as signaling molecule and activates basophils and mast cells and induces the release of inflammatory cytokines. Metabolizes extracellular ATP in the lumen of the small intestine, and thereby prevents ATP-induced apoptosis of intestinal plasmacytoid dendritic cells (By similarity). Has also alkaline phosphodiesterase activity (PubMed:11342463).

Gene Wiki entry for ENPP3 Gene

Additional gene information for ENPP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENPP3 Gene

Genomics for ENPP3 Gene

GeneHancer (GH) Regulatory Elements for ENPP3 Gene

Promoters and enhancers for ENPP3 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
GH06J131627 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.5 -541 2.6 RXRA EP300 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 MYC MED23 ENPP3 lnc-OR2A4-1 ARG1 CTAGE9 LOC100421775 ENPP1 lnc-OR2A4-3
GH06J131634 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 500.4 +8.4 8389 4.5 FOXK2 POLR2G NCOR1 ZBTB25 SKI TEAD1 TAF9B ZKSCAN8 ZSCAN9 KMT2B ENPP3 ARG1 RNU4-18P
GH06J131629 Enhancer 0.4 FANTOM5 517.4 +1.4 1399 0.3 GATA3 GATA1 FOXA1 ENPP3 MED23 lnc-OR2A4-1 RNU4-18P
GH06J131687 Enhancer 0.7 Ensembl 18.6 +59.9 59859 1 RELA MEF2C BCL11A MEF2B BATF IRF4 NR2F1 STAT5A NFATC3 PAX5 ENPP3 OR2A4 HSALNG0053502
GH06J131602 Enhancer 0.6 Ensembl ENCODE 11.9 -25.2 -25221 1.2 JUND FOS MAFK BHLHE40 NFE2L2 CEBPB lnc-OR2A4-3 ARG1 ENPP3 MED23 RNU4-18P lnc-OR2A4-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENPP3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENPP3

Top Transcription factor binding sites by QIAGEN in the ENPP3 gene promoter:
  • AML1a
  • FOXI1
  • FOXO4
  • GR
  • GR-alpha
  • GR-beta
  • HFH-3
  • Lmo2
  • Sox9
  • SRY

Genomic Locations for ENPP3 Gene

Genomic Locations for ENPP3 Gene
chr6:131,628,442-131,747,418
(GRCh38/hg38)
Size:
118,977 bases
Orientation:
Plus strand
chr6:131,949,582-132,068,553
(GRCh37/hg19)
Size:
118,972 bases
Orientation:
Plus strand

Genomic View for ENPP3 Gene

Genes around ENPP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENPP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENPP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENPP3 Gene

Proteins for ENPP3 Gene

  • Protein details for ENPP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14638-ENPP3_HUMAN
    Recommended name:
    Ectonucleotide pyrophosphatase/phosphodiesterase family member 3
    Protein Accession:
    O14638
    Secondary Accessions:
    • Q5JTL3

    Protein attributes for ENPP3 Gene

    Size:
    875 amino acids
    Molecular mass:
    100124 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer and homodimer.
    SequenceCaution:
    • Sequence=AAD05192.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ENPP3 Gene

neXtProt entry for ENPP3 Gene

Post-translational modifications for ENPP3 Gene

  • N-glycosylated. N-glycosylation is necessary for normal transport to the cell membrane, but is not the apical targeting signal.
  • Glycosylation at Asn236, Asn279, Asn290, Asn426, Asn533, Asn582, Asn594, Asn687, Asn699, and Asn789
  • Modification sites at PhosphoSitePlus

Other Protein References for ENPP3 Gene

Antibody Products

  • Abcam antibodies for ENPP3
  • Santa Cruz Biotechnology (SCBT) Antibodies for ENPP3

No data available for DME Specific Peptides for ENPP3 Gene

Domains & Families for ENPP3 Gene

Gene Families for ENPP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ENPP3 Gene

Blocks:
  • Type I phosphodiesterase/nucleotide pyrophosphatase
  • Somatomedin B
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ENPP3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79542, highly similar to Ectonucleotidepyrophosphatase/phosphodiesterase 3 (B0AZV2_HUMAN)
  • Phosphodiesterase I/nucleotide pyrophosphatase 3 (ENPP3_HUMAN)
  • Ectonucleotide pyrophosphatase/phosphodiesterase 3 (Q5JTL2_HUMAN)
  • DJ334I18.1 (Ectonucleotide pyrophosphatase/phosphodiesterase 3) (Q9H515_HUMAN)
  • DJ1005H11.3 (Phosphodiesterase I/nucleotide pyrophosphatase 3) (Q9NQM9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14638

UniProtKB/Swiss-Prot:

ENPP3_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 ENPP3: view

Function for ENPP3 Gene

Molecular function for ENPP3 Gene

UniProtKB/Swiss-Prot Function:
Hydrolase that metabolizes extracellular nucleotides, including ATP, GTP, UTP and CTP (PubMed:29717535). Limits mast cell and basophil responses during inflammation and during the chronic phases of allergic responses by eliminating the extracellular ATP that functions as signaling molecule and activates basophils and mast cells and induces the release of inflammatory cytokines. Metabolizes extracellular ATP in the lumen of the small intestine, and thereby prevents ATP-induced apoptosis of intestinal plasmacytoid dendritic cells (By similarity). Has also alkaline phosphodiesterase activity (PubMed:11342463).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.; EC=3.1.4.1; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-triphosphate + H2O = a ribonucleoside 5'-phosphate + diphosphate + H(+); Xref=Rhea:RHEA:23996, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:58043, ChEBI:CHEBI:61557; EC=3.6.1.9; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + H2O = a 2'-deoxyribonucleoside 5'-phosphate + diphosphate + H(+); Xref=Rhea:RHEA:44644, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:65317; EC=3.6.1.9; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=61.5 uM for ATP; KM=120.3 uM for UTP; KM=120.2 uM for CTP; KM=123.7 uM for GTP;
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ENPP3 Gene

Gene Ontology (GO) - Molecular Function for ENPP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004528 phosphodiesterase I activity IMP 11342463
GO:0004551 nucleotide diphosphatase activity IEA --
GO:0005044 scavenger receptor activity IEA --
genes like me logo Genes that share ontologies with ENPP3: view
genes like me logo Genes that share phenotypes with ENPP3: view

Animal Models for ENPP3 Gene

MGI Knock Outs for ENPP3:

Animal Model Products

CRISPR Products

miRNA for ENPP3 Gene

miRTarBase miRNAs that target ENPP3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENPP3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ENPP3 Gene

Localization for ENPP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENPP3 Gene

Cell membrane; Single-pass type II membrane protein. Apical cell membrane; Single-pass type II membrane protein. Secreted. Note=Detected at the cell surface of basophils (PubMed:11342463). Detected at the apical plasma membrane of bile duct cells (PubMed:15072822). Located to the apical surface in intestinal and kidney epithelial cells. Secreted in serum, and in lumen of epithelial cells. {ECO:0000269 PubMed:11342463, ECO:0000269 PubMed:15072822}.

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 ENPP3 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ENPP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA --
GO:0009897 external side of plasma membrane IDA 11342463
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ENPP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ENPP3 Gene

Pathways & Interactions for ENPP3 Gene

genes like me logo Genes that share pathways with ENPP3: view

Pathways by source for ENPP3 Gene

1 GeneGo (Thomson Reuters) pathway for ENPP3 Gene
  • NAD metabolism
2 Cell Signaling Technology pathways for ENPP3 Gene

Gene Ontology (GO) - Biological Process for ENPP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002276 basophil activation involved in immune response ISS --
GO:0006220 pyrimidine nucleotide metabolic process IMP 11342463
GO:0006796 phosphate-containing compound metabolic process IDA 10513816
GO:0006897 endocytosis IEA --
GO:0006955 immune response IEA --
genes like me logo Genes that share ontologies with ENPP3: view

No data available for SIGNOR curated interactions for ENPP3 Gene

Drugs & Compounds for ENPP3 Gene

(11) Drugs for ENPP3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Flavin Mononucleotide Approved, Investigational Pharma 11
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
NADH Approved Nutra 0

(11) Additional Compounds for ENPP3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoadenylate
  • Adenosine 3',5'-bisphosphate
  • PAP
  • Phosphoadenosine phosphate
  • 3'-Phosphoadenylic acid
1053-73-2
beta-nicotinamide D-ribonucleotide
Dephospho-CoA
  • 3'-dephospho-CoA
  • 3'-dephospho-coenzyme A
  • 3'-O-dephosphono-CoA
  • 3'-O-dephosphono-coenzyme A
  • dephospho-coenzyme A
3633-59-8
Glucose 1-phosphate
  • 1-O-phosphono-D-Glucopyranose
  • Cori ester
  • D-Glucose 1-phosphate
  • GLC-1-P
  • Glucose 1-phosphoric acid
2255-14-3, 59-56-3
Nicotinamide ribotide
  • 3-(Aminocarbonyl)-1-(5-O-phosphonato-beta-D-ribofuranosyl)pyridinium
  • 3-(Aminocarbonyl)-1-(5-O-phosphono-beta-D-ribofuranosyl)pyridinium, inner salt
  • beta-Nicotinamide D-ribonucleotide
  • beta-Nicotinamide mononucleotide
  • beta-Nicotinamide ribonucleotide
1094-61-7
genes like me logo Genes that share compounds with ENPP3: view

Transcripts for ENPP3 Gene

mRNA/cDNA for ENPP3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENPP3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENPP3 Gene

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:

Relevant External Links for ENPP3 Gene

GeneLoc Exon Structure for
ENPP3

Expression for ENPP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ENPP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENPP3 Gene

This gene is overexpressed in Minor Salivary Gland (x6.9), Colon - Transverse (x6.1), and Adrenal Gland (x5.5).

Protein differential expression in normal tissues from HIPED for ENPP3 Gene

This gene is overexpressed in Urine (26.5), Kidney (17.0), Pancreatic juice (10.1), and Lung (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ENPP3 Gene



Protein tissue co-expression partners for ENPP3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENPP3

SOURCE GeneReport for Unigene cluster for ENPP3 Gene:

Hs.486489

mRNA Expression by UniProt/SwissProt for ENPP3 Gene:

O14638-ENPP3_HUMAN
Tissue specificity: Detected on bile ducts in liver, and in blood serum (at protein level) (PubMed:15072822). Detected in prostate and uterus (PubMed:9344668). Detected on basophils, but not neutrophils (PubMed:11342463).

Evidence on tissue expression from TISSUES for ENPP3 Gene

  • Blood(2.5)
genes like me logo Genes that share expression patterns with ENPP3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ENPP3 Gene

Orthologs for ENPP3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENPP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENPP3 31 30
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ENPP3 31 30
  • 86.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ENPP3 31 30
  • 85.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Enpp3 17 31 30
  • 82.02 (n)
rat
(Rattus norvegicus)
Mammalia Enpp3 30
  • 81.58 (n)
oppossum
(Monodelphis domestica)
Mammalia ENPP3 31
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 65 (a)
ManyToMany
-- 31
  • 57 (a)
ManyToMany
-- 31
  • 50 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ENPP3 31 30
  • 68.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENPP3 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enpp3 30
  • 65.2 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01103847.1 31
  • 41 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C27A7.1 32
  • 33 (a)
C27A7.3 32
  • 31 (a)
F13H10.5 31
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPP2 33 31
  • 25 (a)
NPP1 31
  • 20 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G29700 30
  • 51.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToMany
Cin.2772 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2772 30
Species where no ortholog for ENPP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ENPP3 Gene

ENSEMBL:
Gene Tree for ENPP3 (if available)
TreeFam:
Gene Tree for ENPP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ENPP3: view image

Paralogs for ENPP3 Gene

Paralogs for ENPP3 Gene

(9) SIMAP similar genes for ENPP3 Gene using alignment to 7 proteins:

  • ENPP3_HUMAN
  • B0AZV2_HUMAN
  • E7ETI7_HUMAN
  • E9PDB4_HUMAN
  • F5GY67_HUMAN
  • F8W6H5_HUMAN
  • Q9H515_HUMAN
genes like me logo Genes that share paralogs with ENPP3: view

Variants for ENPP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENPP3 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
720735 Likely Benign: not provided 131,674,285(+) T/C INTRON_VARIANT
734966 Likely Benign: not provided 131,746,839(+) C/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
768110 Benign: not provided 131,724,040(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
788295 Benign: not provided 131,726,105(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs17601580 - p.Ser786Asn

Additional dbSNP identifiers (rs#s) for ENPP3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ENPP3 Gene

Variant ID Type Subtype PubMed ID
dgv3658e59 CNV duplication 20981092
dgv88n68 CNV loss 17160897
esv1329374 CNV insertion 17803354
esv24430 CNV gain+loss 19812545
esv2637208 CNV insertion 19546169
esv3334166 CNV duplication 20981092
esv3377992 CNV duplication 20981092
esv3384854 CNV duplication 20981092
nsv1139874 CNV duplication 24896259
nsv1153899 CNV duplication 26484159
nsv471444 CNV gain 19718026
nsv7968 CNV loss 18304495
nsv821228 CNV duplication 20802225
nsv969445 CNV duplication 23825009
nsv981184 CNV duplication 23825009
nsv981185 CNV duplication 23825009

Variation tolerance for ENPP3 Gene

Residual Variation Intolerance Score: 90.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.95; 74.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENPP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENPP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENPP3 Gene

Disorders for ENPP3 Gene

MalaCards: The human disease database

(31) MalaCards diseases for ENPP3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amoxicillin allergy
nut allergy
  • allergy to nuts
pollen allergy
  • hay fever
wheat allergy
  • allergy to wheat
thymus small cell carcinoma
  • small cell carcinoma of the thymus
- elite association - COSMIC cancer census association via MalaCards
Search ENPP3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ENPP3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ENPP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENPP3 Gene

Publications for ENPP3 Gene

  1. Molecular cloning and chromosomal localization of PD-Ibeta (PDNP3), a new member of the human phosphodiesterase I genes. (PMID: 9344668) Jin-Hua P … Sano K (Genomics 1997) 2 3 4 23 54
  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. (PMID: 15072822) Yano Y … Kasuga M (Cancer letters 2004) 3 4 23 54
  3. The basophil-specific ectoenzyme E-NPP3 (CD203c) as a marker for cell activation and allergy diagnosis. (PMID: 15031605) Bühring HJ … Valent P (International archives of allergy and immunology 2004) 3 4 23 54
  4. The basophil activation marker defined by antibody 97A6 is identical to the ectonucleotide pyrophosphatase/phosphodiesterase 3. (PMID: 11342463) Bühring HJ … Sano K (Blood 2001) 3 4 23 54
  5. Structural basis for nucleotide recognition by the ectoenzyme CD203c. (PMID: 29717535) Gorelik A … Nagar B (The FEBS journal 2018) 3 4 54

Products for ENPP3 Gene

Sources for ENPP3 Gene