PNPLA4 (Patatin-Like Phospholipase Domain Containing 4)
A lipid hydrolase with roles in triglyceride metabolism and potential implications in cancer and metabolic disorders.
Gene Information Card
| Symbol | PNPLA4 |
|---|---|
| Full Name | Patatin-like phospholipase domain containing 4 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.3 |
| NCBI Gene ID | 8228 ncbi.nlm.nih.gov/gene/8228 |
| Ensembl ID | ENSG00000102245 |
| UniProt ID | P41247 |
| OMIM ID | 300107 |
| HGNC ID | 9085 |
| Aliases | GS2, iPLA2-2, DXS1283E |
Description
PNPLA4 encodes a member of the patatin-like phospholipase family. The protein exhibits both triacylglycerol lipase and acylglycerol transacylase activities, playing a role in lipid metabolism. It is localized to the cytoplasm and is involved in the hydrolysis of triglycerides and the transfer of fatty acids between acylglycerols. PNPLA4 is expressed in various tissues, with notable levels in the liver and kidney. Alterations in PNPLA4 expression have been observed in certain cancers, suggesting a potential role in tumor biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression; potential role in lipid remodeling and signaling | COSMIC: mutations and expression changes in multiple cancer types; limited functional validation |
| Metabolic disorders | Lipase activity implicated in triglyceride metabolism; variants may affect lipid homeostasis | ClinVar: rare variants of uncertain significance; no established disease association |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 25.3 | Medium |
| Kidney | 18.7 | Medium |
| Adipose tissue | 12.4 | Low |
| Heart | 8.9 | Low |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 32.1 | High expression |
| A549 (lung) | 15.6 | Moderate expression |
| MCF7 (breast) | 8.3 | Low expression |
| K562 (leukemia) | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.421A>G (p.Ile141Val) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.758C>T (p.Pro253Leu) | Missense | 0.005% (gnomAD) | Unknown; predicted possibly damaging |
| c.1003_1004del (p.Leu335fs) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein are likely to abolish lipase activity, potentially affecting lipid metabolism.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity | • lipid binding |
| • triglyceride lipase activity | • acylglycerol transacylase activity |
| • cytoplasm |
Pathways
• Triglyceride metabolism
• Glycerolipid metabolism
Protein Summary
PNPLA4 is a 253-amino acid protein with a patatin domain. It catalyzes the hydrolysis of triglycerides and the transfer of fatty acyl groups between acylglycerols. The protein is predominantly cytoplasmic and is expressed in multiple tissues. Its enzymatic activity suggests a role in lipid droplet homeostasis and energy metabolism. In cancer, altered expression may influence tumor progression through lipid signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNPLA4 Knockout HEK293 Cell Line | EDJ-KQ6184 | Human | 8228 | Details Get a Quote |
| PNPLA4 Knockout A-549 Cell Line | EDJ-KQ30013 | Human | 8228 | Details Get a Quote |
| PNPLA4 Knockout HeLa Cell Line | EDJ-KQ30015 | Human | 8228 | Details Get a Quote |
| PNPLA4 Knockout HCT 116 Cell Line | EDJ-KQ28706 | Human | 8228 | Details Get a Quote |
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