HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PNPLA7
patatin like domain 7, lysophospholipase
Chromosome 9 · 9q34.3
NCBI Gene: 375775Ensembl: ENSG00000130653.17HGNC: HGNC:24768UniProt: Q6ZV29
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumphosphatidylcholine lysophospholipase A1 activityphosphatidylcholine catabolic processlipid dropletbenign lipomatous neoplasmhypertensionresponse to xenobiotic stimulusprimary ovarian insufficiency
✦AI Summary

PNPLA7 is a lysophospholipase localized to the endoplasmic reticulum and mitochondrial-associated membranes that preferentially hydrolyzes unsaturated lysophosphatidylcholine (C18:1) to generate glycerophosphocholine 1. This enzymatic activity regulates hepatic choline and methionine metabolism, with PNPLA7 deficiency decreasing glycerophosphocholine, choline, and methionine cycle intermediates 1. PNPLA7 also modulates apolipoprotein E stability to facilitate VLDL secretion and lipid metabolism 2. Beyond lipid catabolism, PNPLA7 functions as a negative regulator of white adipose tissue browning by promoting Parkin-mediated mitophagy during cold challenge 3. Additionally, PNPLA7 suppresses macrophage classical (M1) activation through SIRT1/NF-κB and p38 MAPK pathways by hydrolyzing the pro-inflammatory lipid lysophosphatidylcholine 4. Clinically, PNPLA7 expression is reduced in hepatocellular carcinoma and serves as a diagnostic and prognostic biomarker in gastric, colorectal, and urological cancers, with higher expression associated with improved survival 156. These findings establish PNPLA7 as a multifunctional phospholipid-metabolizing enzyme linking lipid homeostasis, energy metabolism, and immune regulation.

Sources cited
1
PNPLA7 is a lysophospholipase that cleaves lysophosphatidylcholine to generate glycerophosphocholine and regulates hepatic choline/methionine metabolism; expression is reduced in hepatocellular carcinoma
PMID: 36979406
2
PNPLA7 inhibits white adipose tissue browning by promoting PINK1/Parkin-mediated mitophagy and resists adaptive thermogenesis
PMID: 40681495
3
PNPLA7 is downregulated in gastric and colorectal cancers and serves as a diagnostic and prognostic biomarker with higher expression correlating to improved survival
PMID: 37861523
4
PNPLA7 facilitates VLDL secretion by modulating apolipoprotein E stability at the endoplasmic reticulum
PMID: 32103509
5
PNPLA7 suppresses macrophage classical activation by hydrolyzing lysophosphatidylcholine and modulating SIRT1/NF-κB and p38 MAPK pathways
PMID: 36499308
6
PNPLA7 is an ER transmembrane lysophosphatidylcholine hydrolase with C-terminal catalytic domain that targets lipid droplets upon elevated fatty acid flux
PMID: 28887301
7
PNPLA7 is identified as a potential biomarker in urological cancers through phosphoinositide metabolism analysis
PMID: 40221501
Disease Associationsⓘ20
benign lipomatous neoplasmOpen Targets
0.28Weak
hypertensionOpen Targets
0.27Weak
response to xenobiotic stimulusOpen Targets
0.26Weak
peripheral neuropathy, autosomal recessive, with or without impaired intellectual developmentOpen Targets
0.12Weak
primary ovarian insufficiencyOpen Targets
0.12Weak
diabetes mellitusOpen Targets
0.11Weak
cervical carcinomaOpen Targets
0.11Weak
mulibrey nanismOpen Targets
0.11Weak
type 2 diabetes mellitusOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.05Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.04Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.04Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.04Suggestive
obesity due to pro-opiomelanocortin deficiencyOpen Targets
0.04Suggestive
obesity due to prohormone convertase I deficiencyOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
AKT2-related familial partial lipodystrophyOpen Targets
0.03Suggestive
Familial partial lipodystrophy due to AKT2 mutationsOpen Targets
0.03Suggestive
hyperinsulinemic hypoglycemia, familial, 8Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LCATProtein interaction93%PLA2G4AProtein interaction93%PLA2G4CProtein interaction93%LPCAT3Protein interaction93%LYPLA1Protein interaction93%PNPLA6Protein interaction93%
Tissue Expression6 tissues
Ovary
100%
Liver
61%
Lung
20%
Heart
20%
Bone Marrow
14%
Brain
9%
Gene Interaction Network
Click a node to explore
PNPLA7LCATPLA2G4APLA2G4CLPCAT3LYPLA1PNPLA6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZV29
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.88–1.15]
RankingsWhere PNPLA7 stands among ~20K protein-coding genes
  • #14,231of 20,598
    Most Researched20
  • #12,037of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedPNPLA7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Lysophospholipase PNPLA7 Controls Hepatic Choline and Methionine Metabolism.
PMID: 36979406
Biomolecules · 2023
1.00
2
PNPLA7 mediates Parkin-mitochondrial recruitment in adipose tissue for mitophagy and inhibits browning.
PMID: 40681495
Nat Commun · 2025
0.90
3
The phospholipase PNPLA7 functions as a positive indicator in human colorectal and gastric cancers.
PMID: 37861523
Medicine (Baltimore) · 2023
0.80
4
Correlation analysis of the PNPLA7 gene polymorphism and susceptibility to menstrual disorder.
PMID: 25867316
Genet Mol Res · 2015
0.70
5
Comprehensive bioinformatics and immunohistochemical analyses identify phosphoinositide metabolism and PNPLA7 as potential biomarkers in urological cancers.
PMID: 40221501
Sci Rep · 2025
0.60