PLA2G15 (Phospholipase A2 Group XV)
Lysosomal phospholipase A2: A key enzyme in lipid metabolism and surfactant homeostasis
Gene Information Card
| Symbol | PLA2G15 |
|---|---|
| Full Name | phospholipase A2 group XV |
| Gene Type | protein coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 23659 ncbi.nlm.nih.gov/gene/23659 |
| Ensembl ID | ENSG00000104763 |
| UniProt ID | Q8NCC3 |
| OMIM ID | 610472 |
| HGNC ID | 17121 |
| Aliases | LPLA2, LYPLA3, GXVPLA2, 1-O-acylceramide synthase |
Description
PLA2G15 encodes lysosomal phospholipase A2 (LPLA2), an enzyme that catalyzes the hydrolysis of phosphatidylcholine and phosphatidylethanolamine to produce free fatty acids and lysophospholipids. It also exhibits transacylase activity, transferring fatty acids to ceramide to form 1-O-acylceramide. LPLA2 is critical for surfactant lipid catabolism in alveolar macrophages and for general lysosomal lipid degradation. Mutations in PLA2G15 are associated with a rare lysosomal storage disorder characterized by pulmonary alveolar proteinosis and systemic lipid accumulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary alveolar proteinosis (PAP) | Loss-of-function mutations in PLA2G15 lead to deficient LPLA2 activity, causing accumulation of surfactant lipids in alveolar macrophages and alveoli. | ClinVar; OMIM (610472); PubMed studies |
| Lysosomal storage disease with systemic lipid accumulation | Deficient LPLA2 activity results in lysosomal accumulation of phospholipids and ceramide derivatives in various tissues, including liver and spleen. | OMIM; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Liver | 8.7 | Low |
| Spleen | 6.5 | Low |
| Kidney | 5.2 | Low |
| Brain | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| HepG2 (hepatocellular carcinoma) | 9.8 | Moderate expression |
| THP-1 (monocytic leukemia) | 7.4 | Moderate expression |
| K-562 (chronic myelogenous leukemia) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.535G>A (p.Gly179Arg) | Missense | Rare (MAF <0.01) | Loss of enzymatic activity; associated with PAP |
| c.1123C>T (p.Arg375Ter) | Nonsense | Rare | Premature truncation; loss of function |
| c.1468G>A (p.Glu490Lys) | Missense | Rare | Reduced catalytic activity; potential pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to reduced or absent LPLA2 activity, causing lipid accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported for PLA2G15.
Dominant Negative (DN)
No dominant-negative effects documented; disease is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • lysophospholipase activity | • phospholipase A2 activity |
| • 1-O-acylceramide synthase activity | • hydrolase activity |
| • lipid metabolic process | • lysosome |
Pathways
• Glycerophospholipid metabolism
• Sphingolipid metabolism
• Lysosome
Protein Summary
The PLA2G15 protein (LPLA2) is a 412-amino acid glycoprotein localized to the lysosome. It is synthesized as a preproenzyme and processed to a mature form. LPLA2 is the major phospholipase in alveolar macrophages and plays a role in surfactant degradation. It also has transacylase activity, contributing to ceramide metabolism. Structural studies show a catalytic serine-aspartate-histidine triad. Deficiency leads to lysosomal storage of phospholipids and pulmonary alveolar proteinosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLA2G15 Knockout HEK293 Cell Line | EDJ-KQ8113 | Human | 23659 | Details Get a Quote |
| PLA2G15 Knockout A-549 Cell Line | EDJ-KQ33992 | Human | 23659 | Details Get a Quote |
| PLA2G15 Knockout HCT 116 Cell Line | EDJ-KQ33993 | Human | 23659 | Details Get a Quote |
| PLA2G15 Knockout HeLa Cell Line | EDJ-KQ33994 | Human | 23659 | Details Get a Quote |
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