Aliases for ENPP6 Gene

Aliases for ENPP6 Gene

  • Ectonucleotide Pyrophosphatase/Phosphodiesterase 6 2 3 5
  • Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 6 3 4
  • Choline-Specific Glycerophosphodiester Phosphodiesterase 3 4
  • Glycerophosphocholine Cholinephosphodiesterase ENPP6 3 4
  • GPC-Cpde 3 4
  • E-NPP 6 3 4
  • NPP-6 3 4
  • Glycerophosphocholine Cholinephosphodiesterase 3
  • B830047L21Rik 3
  • EC 4
  • EC 3.1.4.- 4
  • MGC33971 2
  • ENPP6 5
  • NPP6 3

External Ids for ENPP6 Gene

Previous GeneCards Identifiers for ENPP6 Gene

  • GC04M185705
  • GC04M185385
  • GC04M185246
  • GC04M185009
  • GC04M180764

Summaries for ENPP6 Gene

GeneCards Summary for ENPP6 Gene

ENPP6 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 6) is a Protein Coding gene. Diseases associated with ENPP6 include Bietti Crystalline Corneoretinal Dystrophy and Neuropathy, Hereditary Sensory And Autonomic, Type Ia. Among its related pathways are Acyl chain remodelling of PE and PI Metabolism. Gene Ontology (GO) annotations related to this gene include phosphoric diester hydrolase activity and glycerophosphocholine cholinephosphodiesterase activity. An important paralog of this gene is ENPP1.

UniProtKB/Swiss-Prot Summary for ENPP6 Gene

  • Choline-specific glycerophosphodiesterase that hydrolyzes glycerophosphocholine (GPC) and lysophosphatidylcholine (LPC) and contributes to supplying choline to the cells (PubMed:15788404). Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. In vitro, hydrolyzes only choline-containing lysophospholipids, such as sphingosylphosphorylcholine (SPC), platelet-activating factor (PAF) and lysoPAF, but not other lysophospholipids (By similarity).

Additional gene information for ENPP6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENPP6 Gene

Genomics for ENPP6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ENPP6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J184275 Promoter/Enhancer 0.8 EPDnew Ensembl dbSUPER 600.2 -54.8 -54771 0.4 RELA MLLT1 lnc-ENPP6-1 ENPP6 CASP3 PRIMPOL CENPU LOC105377584 lnc-STOX2-11 LOC105377582 IRF2
GH04J184218 Promoter 0.4 EPDnew 600.7 +3.3 3344 0.1 ZFP91 ENPP6 lnc-IRF2-8 STOX2
GH04J184309 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 6.6 -93.7 -93671 10.6 SP1 GATAD2A CTCF ZNF512 KDM1A RCOR2 POLR2A BACH1 FOXA1 LARP7 IRF2 MYL12BP2 ENSG00000251878 LINC02363 ENPP6 CASP3 lnc-IRF2-7 lnc-STOX2-9
GH04J184231 Enhancer 1.1 FANTOM5 Ensembl ENCODE 7.2 -11.2 -11179 2 GATAD2A TFE3 RXRB SP1 CEBPA SOX13 ZNF316 TEAD1 JUND SAP130 ENPP6 piR-30449-131 IRF2
GH04J184287 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 5.6 -67.1 -67140 2.2 SP1 GATAD2A BACH1 FOXA1 LARP7 STAT3 RELA REST RAD21 TCF12 CASP3 IRF2 ENSG00000251878 PRIMPOL LINC02363 MYL12BP2 ENPP6 CENPU Hsa-Mir-574_5p-050 LOC105377582
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENPP6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENPP6

Top Transcription factor binding sites by QIAGEN in the ENPP6 gene promoter:
  • AP-4
  • COUP
  • COUP-TF1
  • E47
  • HNF-4alpha1
  • HNF-4alpha2
  • NRSF form 1
  • NRSF form 2
  • Sox5

Genomic Locations for ENPP6 Gene

Genomic Locations for ENPP6 Gene
132,525 bases
Minus strand
132,525 bases
Minus strand

Genomic View for ENPP6 Gene

Genes around ENPP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENPP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENPP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENPP6 Gene

Proteins for ENPP6 Gene

  • Protein details for ENPP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glycerophosphocholine cholinephosphodiesterase ENPP6
    Protein Accession:
    Secondary Accessions:
    • Q4W5Q1
    • Q96M57

    Protein attributes for ENPP6 Gene

    440 amino acids
    Molecular mass:
    50241 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer; disulfide-linked. Homotetramer.

neXtProt entry for ENPP6 Gene

Post-translational modifications for ENPP6 Gene

  • Glycosylation at Asn100, Asn118, Asn341, and Asn404
  • Modification sites at PhosphoSitePlus

Other Protein References for ENPP6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ENPP6

No data available for DME Specific Peptides for ENPP6 Gene

Domains & Families for ENPP6 Gene

Gene Families for ENPP6 Gene

Protein Domains for ENPP6 Gene

Suggested Antigen Peptide Sequences for ENPP6 Gene

GenScript: Design optimal peptide antigens:
  • Ectonucleotide pyrophosphatase/phosphodiesterase family member 6 (ENPP6_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
  • Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
genes like me logo Genes that share domains with ENPP6: view

Function for ENPP6 Gene

Molecular function for ENPP6 Gene

UniProtKB/Swiss-Prot Function:
Choline-specific glycerophosphodiesterase that hydrolyzes glycerophosphocholine (GPC) and lysophosphatidylcholine (LPC) and contributes to supplying choline to the cells (PubMed:15788404). Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. In vitro, hydrolyzes only choline-containing lysophospholipids, such as sphingosylphosphorylcholine (SPC), platelet-activating factor (PAF) and lysoPAF, but not other lysophospholipids (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + sn-glycerol 3-phosphocholine = glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:19545, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16870, ChEBI:CHEBI:17754, ChEBI:CHEBI:295975; EC=; Evidence={ECO:0000269|PubMed:15788404};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-acyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:44720, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:58168, ChEBI:CHEBI:64683, ChEBI:CHEBI:295975; Evidence={ECO:0000269|PubMed:15788404};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-alkyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:36083, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15850, ChEBI:CHEBI:30909, ChEBI:CHEBI:295975; Evidence={ECO:0000250|UniProtKB:Q8BGN3};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-dodecanoyl-sn-glycero-3-phosphocholine + H2O = 1-dodecanoyl-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:41127, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:74966, ChEBI:CHEBI:75529, ChEBI:CHEBI:295975; Evidence={ECO:0000250|UniProtKB:Q8BGN3};.
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:0000250|UniProtKB:Q8BGN3};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + H2O = 1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:41003, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:34071, ChEBI:CHEBI:74344, ChEBI:CHEBI:295975; Evidence={ECO:0000250|UniProtKB:Q8BGN3};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-tetradecanoyl-sn-glycero-3-phosphocholine + H2O = 1-tetradecanoyl-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:40999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:64489, ChEBI:CHEBI:75536, ChEBI:CHEBI:295975; Evidence={ECO:0000250|UniProtKB:Q8BGN3};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + sphing-4-enine-phosphocholine = H(+) + phosphocholine + sphing-4-enine; Xref=Rhea:RHEA:41095, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57756, ChEBI:CHEBI:58906, ChEBI:CHEBI:295975; Evidence={ECO:0000250|UniProtKB:Q8BGN3};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = 1-(9Z-octadecenoyl)-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:41091, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28610, ChEBI:CHEBI:75757, ChEBI:CHEBI:295975; Evidence={ECO:0000250|UniProtKB:Q8BGN3};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphocholine + H2O = 1-(9Z,12Z-octadecadienoyl)-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:41115, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28733, ChEBI:CHEBI:75561, ChEBI:CHEBI:295975; Evidence={ECO:0000250|UniProtKB:Q8BGN3};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glycero-2-phosphocholine + H2O = glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:61684, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:144950, ChEBI:CHEBI:295975; Evidence={ECO:0000250|UniProtKB:Q8BGN3};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=344 uM for GPC {ECO:0000269|PubMed:15788404}; KM=296 uM for 12:0-LPC {ECO:0000269|PubMed:15788404}; KM=440 uM for 14:0-LPC {ECO:0000269|PubMed:15788404}; KM=165 uM for 16:0-LPC {ECO:0000269|PubMed:15788404}; KM=434 uM for 18:2-LPC {ECO:0000269|PubMed:15788404}; KM=563 uM for 20:4-LPC {ECO:0000269|PubMed:15788404}; Vmax=484 nmol/min/mg enzyme with GPC as substrate {ECO:0000269|PubMed:15788404}; Vmax=463 nmol/min/mg enzyme with 12:0-LPC as substrate {ECO:0000269|PubMed:15788404}; Vmax=367 nmol/min/mg enzyme with 14:0-LPC as substrate {ECO:0000269|PubMed:15788404}; Vmax=89 nmol/min/mg enzyme with 16:0-LPC as substrate {ECO:0000269|PubMed:15788404}; Vmax=285 nmol/min/mg enzyme with 18:2-LPC as substrate {ECO:0000269|PubMed:15788404}; Vmax=470 nmol/min/mg enzyme with 20:4-LPC as substrate {ECO:0000269|PubMed:15788404}; pH dependence: Optimum pH is 8.5-7.5. {ECO:0000269|PubMed:15788404};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by EDTA and EGTA in vitro.

Enzyme Numbers (IUBMB) for ENPP6 Gene

Phenotypes From GWAS Catalog for ENPP6 Gene

Gene Ontology (GO) - Molecular Function for ENPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0008081 phosphoric diester hydrolase activity IDA 15788404
GO:0008889 glycerophosphodiester phosphodiesterase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ENPP6: view
genes like me logo Genes that share phenotypes with ENPP6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ENPP6

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENPP6

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ENPP6 Gene

Localization for ENPP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENPP6 Gene

Cell membrane. Lipid-anchor, GPI-anchor. Note=A small amount of the protein may be found in the extracellular milieu.

Subcellular locations from

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 ENPP6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ENPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 15788404
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with ENPP6: view

Pathways & Interactions for ENPP6 Gene

genes like me logo Genes that share pathways with ENPP6: view

Pathways by source for ENPP6 Gene

Gene Ontology (GO) - Biological Process for ENPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IBA,IDA 15788404
GO:0016042 lipid catabolic process IEA --
GO:0019695 choline metabolic process IBA,IDA 15788404
GO:0046475 glycerophospholipid catabolic process TAS --
genes like me logo Genes that share ontologies with ENPP6: view

No data available for SIGNOR curated interactions for ENPP6 Gene

Drugs & Compounds for ENPP6 Gene

(4) Drugs for ENPP6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma 197
Water Approved Pharma 0
Choline alfoscerate Experimental, Investigational Pharma 0
Phosphorylcolamine Experimental Pharma 0

(63) Additional Compounds for ENPP6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2-(5Z,8Z,11Z,14Z-Eicosatetraenoyl)-glycerol
  • 2-AG
  • 2-Ara-GL
  • 2-Arachidonoyl-glycerol
  • 2-Arachidonyl-glycerol
  • 2-Monomyristin
  • 2-Monotetradecanoylglycerol
  • 2-Myristoyloxy-propane-1,3-diol
  • Glycerin monomyristate
  • Glyceryl 2-myristate
  • 1-Monoacylglyceride
  • 1-Monoacylglycerol
  • 2-(9Z-Tetradecenoyl)-rac-glycerol
  • 2-Myristoleoyl-glycerol
  • b-Monoacylglycerol
  • 1-Monoacylglyceride
  • 1-Monoacylglycerol
  • 2-Pentadecanoyl-glycerol
  • 2-Pentadecanoyl-rac-glycerol
  • b-Monoacylglycerol
  • 1,3-Dihydroxypropan-2-yl palmitate
  • 2-Hexadecanoylglycerol
  • 2-Monopalmitin
  • 2-Monopalmitoylglycerol
  • 2-O-Palmitoylglycerol
genes like me logo Genes that share compounds with ENPP6: view

Transcripts for ENPP6 Gene

mRNA/cDNA for ENPP6 Gene

5 NCBI additional mRNA sequence :
4 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 ENPP6

Alternative Splicing Database (ASD) splice patterns (SP) for ENPP6 Gene

No ASD Table

Relevant External Links for ENPP6 Gene

GeneLoc Exon Structure for

Expression for ENPP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ENPP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENPP6 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x14.8), Brain - Substantia nigra (x7.0), and Nerve - Tibial (x4.8).

Protein differential expression in normal tissues from HIPED for ENPP6 Gene

This gene is overexpressed in Cerebral cortex (36.7) and Spinal cord (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ENPP6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENPP6

SOURCE GeneReport for Unigene cluster for ENPP6 Gene:


mRNA Expression by UniProt/SwissProt for ENPP6 Gene:

Tissue specificity: Predominantly expressed in kidney and brain. In the kidney, expressed specifically in the proximal tubules and thin descending limbs of Henle (at protein level).

Evidence on tissue expression from TISSUES for ENPP6 Gene

  • Nervous system(4.8)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with ENPP6: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENPP6 Gene

Orthologs for ENPP6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ENPP6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ENPP6 30 31
  • 99.17 (n)
(Canis familiaris)
Mammalia ENPP6 30 31
  • 90.05 (n)
(Rattus norvegicus)
Mammalia Enpp6 30
  • 86.35 (n)
(Mus musculus)
Mammalia Enpp6 30 17 31
  • 85.48 (n)
(Bos Taurus)
Mammalia ENPP6 30 31
  • 84.77 (n)
(Monodelphis domestica)
Mammalia ENPP6 31
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia ENPP6 31
  • 66 (a)
(Gallus gallus)
Aves ENPP6 30 31
  • 72.52 (n)
(Anolis carolinensis)
Reptilia ENPP6 31
  • 71 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia enpp6 30
  • 67.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18662 30
(Danio rerio)
Actinopterygii enpp6 30 31
  • 63.05 (n)
sbcb727 30
(Caenorhabditis elegans)
Secernentea T03G6.3 30 31
  • 40.82 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPP2 31
  • 18 (a)
NPP1 31
  • 15 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
Species where no ortholog for ENPP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 ENPP6 Gene

Gene Tree for ENPP6 (if available)
Gene Tree for ENPP6 (if available)
Evolutionary constrained regions (ECRs) for ENPP6: view image

Paralogs for ENPP6 Gene

Paralogs for ENPP6 Gene

(6) SIMAP similar genes for ENPP6 Gene using alignment to 3 proteins:

  • D6R9P1_HUMAN
genes like me logo Genes that share paralogs with ENPP6: view

Variants for ENPP6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENPP6 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
783386 Benign: not provided 184,217,607(-) C/T SYNONYMOUS_VARIANT
789730 Benign: not provided 184,153,545(-) C/T INTRON_VARIANT
rs4479748 - p.Ser419Gly
rs4488969 - p.Asp357Asn

Additional dbSNP identifiers (rs#s) for ENPP6 Gene

Structural Variations from Database of Genomic Variants (DGV) for ENPP6 Gene

Variant ID Type Subtype PubMed ID
esv3336765 CNV duplication 20981092
esv3350511 CNV duplication 20981092
esv3417901 CNV duplication 20981092
esv3603454 CNV gain 21293372
nsv1026796 CNV gain 25217958
nsv1146419 CNV duplication 26484159
nsv475007 CNV novel sequence insertion 20440878
nsv521658 CNV loss 19592680
nsv819624 CNV loss 19587683
nsv830166 CNV gain 17160897
nsv830167 CNV gain 17160897
nsv949858 CNV deletion 24416366

Variation tolerance for ENPP6 Gene

Residual Variation Intolerance Score: 58.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENPP6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENPP6 Gene

Disorders for ENPP6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ENPP6 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ENPP6 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ENPP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENPP6 Gene

Publications for ENPP6 Gene

  1. Biochemical and molecular characterization of a novel choline-specific glycerophosphodiester phosphodiesterase belonging to the nucleotide pyrophosphatase/phosphodiesterase family. (PMID: 15788404) Sakagami H … Arai H (The Journal of biological chemistry 2005) 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for ENPP6 Gene

  • Signalway Proteins for ENPP6

Sources for ENPP6 Gene