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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ENPP6
ectonucleotide pyrophosphatase/phosphodiesterase 6
Chromosome 4 · 4q35.1
NCBI Gene: 133121Ensembl: ENSG00000164303.12HGNC: HGNC:23409UniProt: Q6UWR7
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphosphoric diester hydrolase activityplasma membraneextracellular regioninfluenza A (H1N1)preeclampsiaceliac diseasebreast carcinoma
✦AI Summary

ENPP6 (ectonucleotide pyrophosphatase/phosphodiesterase 6) is a choline-specific glycerophosphodiesterase that plays crucial roles in choline metabolism and cellular signaling. The enzyme hydrolyzes glycerophosphocholine (GPC) and lysophosphatidylcholine (LPC) to supply choline to cells, with preference for LPC containing short or polyunsaturated fatty acids 1. ENPP6 also hydrolyzes other choline-containing lysophospholipids including sphingosylphosphorylcholine, platelet-activating factor, and lysoPAF 1. Beyond choline metabolism, ENPP6 contributes to skeletal mineralization by acting with PLA2 to generate phosphocholine from phosphatidylcholine in matrix vesicle membranes, which PHOSPHO1 can then hydrolyze to liberate inorganic phosphate for hydroxyapatite precipitation 2. The enzyme represents part of alternative 2-arachidonoylglycerol synthesis pathways (AlterAG-3), converting extracellular lysophospholipids into the endocannabinoid 2-AG through ectocellular cleavage 3. Clinically, ENPP6 shows protective associations with chr4 kidney disease in individuals with abnormal glucose metabolism 4 and serves as a biomarker for proximal tubule maladaptation following acute kidney injury 5. Genetic variants in ENPP6 are associated with bladder cancer susceptibility and Alzheimer's disease with psychosis 67.

Sources cited
1
ENPP6 hydrolyzes GPC and LPC to supply choline, with preference for specific fatty acid compositions
PMID: 15788404
2
ENPP6 works with PLA2 in skeletal mineralization by generating phosphocholine from matrix vesicle membranes
PMID: 28864658
3
ENPP6 participates in AlterAG-3 pathway converting lysophospholipids to 2-arachidonoylglycerol
PMID: 39125098
4
ENPP6 shows protective association with chronic kidney disease in abnormal glucose metabolism
PMID: 40934961
5
ENPP6 serves as plasma biomarker for proximal tubule maladaptation after acute kidney injury
PMID: 38091407
6
Genetic variants in ENPP6 associated with bladder cancer susceptibility
PMID: 35237847
7
ENPP6 loci associated with psychosis in Alzheimer's disease
PMID: 34112972
Disease Associationsⓘ20
influenza A (H1N1)Open Targets
0.34Weak
preeclampsiaOpen Targets
0.34Weak
breast carcinomaOpen Targets
0.32Weak
celiac diseaseOpen Targets
0.32Weak
psychotic symptomsOpen Targets
0.31Weak
frozen shoulderOpen Targets
0.19Weak
autismOpen Targets
0.11Weak
intestinal diseaseOpen Targets
0.11Weak
Varicose veinsOpen Targets
0.08Suggestive
clear cell renal carcinomaOpen Targets
0.06Suggestive
synovium disorderOpen Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.05Suggestive
ovarian dysfunctionOpen Targets
0.02Suggestive
nasopharyngeal carcinomaOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
papillary renal cell carcinomaOpen Targets
0.01Suggestive
kidney oncocytomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
chromophobe renal cell carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPCPD1Shared pathway100%LPCAT4Protein interaction91%TMEM86BProtein interaction91%GDPD1Protein interaction84%GDPD3Protein interaction74%PLA2G2CProtein interaction70%
Tissue Expression6 tissues
Brain
100%
Ovary
91%
Heart
4%
Lung
1%
Liver
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
ENPP6GPCPD1LPCAT4TMEM86BGDPD1GDPD3PLA2G2C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6UWR7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.55–1.00]
RankingsWhere ENPP6 stands among ~20K protein-coding genes
  • #15,254of 20,598
    Most Researched16
  • #9,622of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedENPP6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Analysis of the human kidney transcriptome and plasma proteome identifies markers of proximal tubule maladaptation to injury.
PMID: 38091407
Sci Transl Med · 2023
1.00
2
PLA
PMID: 28864658
FASEB J · 2018
0.90
3
Epigenetic and Tumor Microenvironment for Prognosis of Patients with Gastric Cancer.
PMID: 37238607
Biomolecules · 2023
0.80
4
Integrative analysis identifies novel proteins associated with chronic kidney disease in participants with abnormal glucose metabolism.
PMID: 40934961
Diabetes Res Clin Pract · 2025
0.70
5
Genetic variants in choline metabolism pathway are associated with the risk of bladder cancer in the Chinese population.
PMID: 35237847
Arch Toxicol · 2022
0.60