PLA2G7 (Lipoprotein-Associated Phospholipase A2): Genetics, Function, and Clinical Significance
A comprehensive biomedical overview of the PLA2G7 gene, including its genomic context, protein function, expression patterns, disease associations, and mutation landscape.
Gene Information Card
| Symbol | PLA2G7 |
|---|---|
| Full Name | phospholipase A2 group VII |
| Gene Type | protein coding |
| Chromosomal Location | 6p12.3 |
| NCBI Gene ID | 7941 ncbi.nlm.nih.gov/gene/7941 |
| Ensembl ID | ENSG00000146070 |
| UniProt ID | Q13093 |
| OMIM ID | 601690 |
| HGNC ID | 9040 |
| Aliases | Lp-PLA2, PAFAD, PAF acetylhydrolase, LDL-PLA2, Group VII phospholipase A2 |
Description
PLA2G7 encodes lipoprotein-associated phospholipase A2 (Lp-PLA2), a secreted enzyme that hydrolyzes platelet-activating factor (PAF) and oxidized phospholipids. It circulates in blood bound to LDL and HDL particles, playing a key role in inflammation and atherosclerosis. Genetic variants influence enzyme activity and disease susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | Increased Lp-PLA2 activity promotes vascular inflammation and plaque formation | Multiple GWAS and cohort studies (e.g., ARIC, MESA) show association with coronary artery disease risk |
| Asthma | Reduced PAF acetylhydrolase activity leads to elevated PAF levels, contributing to bronchial hyperresponsiveness | Case-control studies and functional assays |
| Crohn's Disease | Loss-of-function variants (e.g., V279F) are associated with increased risk, possibly due to altered lipid mediator metabolism | Genetic association studies in Japanese and European populations |
| Sepsis | Altered Lp-PLA2 activity affects inflammatory response and organ dysfunction | Observational studies in septic patients |
| Ischemic Stroke | Elevated Lp-PLA2 mass and activity are associated with increased stroke risk | Meta-analyses and prospective cohort studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | High | nTPM ~ 1000 (whole blood) |
| Spleen | Medium | nTPM ~ 50 |
| Lung | Low | nTPM ~ 10 |
| Liver | Low | nTPM ~ 5 |
| Kidney | Low | nTPM ~ 3 |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | High | Macrophage-like cells express high levels |
| HepG2 (hepatocyte) | Low | Minimal expression |
| A549 (lung epithelial) | Low | Low expression |
| Jurkat (T-cell) | Low | Not significantly expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| V279F | Missense | ~5% in East Asians, rare in Europeans | Loss of catalytic activity; associated with increased cardiovascular and inflammatory disease risk |
| A379V | Missense | Common polymorphism (allele frequency ~20-30%) | Reduced enzyme activity; linked to altered lipid metabolism |
| R92H | Missense | Rare | Functional impact uncertain; possibly reduced activity |
| I198T | Missense | Rare | Potential effect on protein stability; clinical significance unclear |
Mutation functional classification
Loss of Function (LOF)
V279F and A379V variants reduce or abolish enzymatic activity, leading to impaired PAF degradation and increased inflammatory susceptibility.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; most variants reduce activity.
Dominant Negative (DN)
No evidence for dominant-negative effects; PLA2G7 is a secreted enzyme, and loss-of-function alleles are typically recessive in effect.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase A2 activity | • platelet-activating factor acetylhydrolase activity |
| • lipid metabolic process | • inflammatory response |
| • response to oxidative stress | • extracellular space |
Pathways
• Platelet-activating factor (PAF) metabolism
• Lipoprotein metabolism
• Atherosclerosis signaling
• Inflammatory response pathway
Protein Summary
PLA2G7 encodes a 441-amino acid secreted protein (Lp-PLA2) that belongs to the phospholipase A2 family. It catalyzes the hydrolysis of PAF and oxidized phospholipids, generating lysophosphatidylcholine and oxidized fatty acids. The enzyme is primarily produced by macrophages and is secreted into plasma, where it associates with LDL and HDL. Its activity is implicated in vascular inflammation and atherosclerosis. The protein structure includes a catalytic triad (Ser273, Asp296, His351) and a calcium-binding site, though calcium is not required for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLA2G7 Knockout HEK293 Cell Line | EDJ-KQ6147 | Human | 7941 | Details Get a Quote |
| PLA2G7 Knockout HCT 116 Cell Line | EDJ-KQ29944 | Human | 7941 | Details Get a Quote |
| PLA2G7 Knockout HeLa Cell Line | EDJ-KQ54809 | Human | 7941 | Details Get a Quote |
| PLA2G7 Knockout A-549 Cell Line | EDJ-KQ63299 | Human | 7941 | Details Get a Quote |
