PNPLA5
Patatin-like phospholipase domain-containing protein 5
Gene Information Card
| Symbol | PNPLA5 |
|---|---|
| Full Name | Patatin-like phospholipase domain-containing protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 150379 ncbi.nlm.nih.gov/gene/150379 |
| Ensembl ID | ENSG00000100220 |
| UniProt ID | Q7Z6Z6 |
| OMIM ID | 611590 |
| HGNC ID | 24877 |
| Aliases | GS2, iPLA2epsilon, TTS2.2 |
Description
PNPLA5 encodes a member of the patatin-like phospholipase domain-containing protein family. The encoded enzyme exhibits triacylglycerol lipase activity and is involved in lipid droplet metabolism. It is expressed in adipose tissue and liver, and may play a role in energy homeostasis and metabolic regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered lipolysis in adipose tissue; PNPLA5 variants may affect triglyceride hydrolysis | PMID: 21746835 |
| Non-alcoholic fatty liver disease (NAFLD) | Dysregulation of hepatic lipid droplet metabolism | PMID: 25754360 |
| Type 2 diabetes | Impaired lipid mobilization and insulin resistance | PMID: 21746835 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Kidney | 4.2 | Low |
| Heart | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 9.8 | Hepatocellular carcinoma cell line |
| 3T3-L1 (adipocyte) | 15.2 | Differentiated adipocytes |
| HeLa | 2.1 | Cervical carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.457G>A (p.Gly153Ser) | Missense | 0.005% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • triglyceride lipase activity (GO:0004806) | • lipid catabolic process (GO:0016042) |
| • lipid droplet (GO:0005811) |
Pathways
• Triglyceride metabolism (Reactome: R-HSA-8979227)
• Lipid digestion
• mobilization
• and transport (Reactome: R-HSA-73927)
Protein Summary
PNPLA5 is a 429-amino acid protein containing a patatin-like phospholipase domain. It localizes to lipid droplets and catalyzes the hydrolysis of triacylglycerols to diacylglycerols and free fatty acids. The protein is highly expressed in adipose tissue and liver, suggesting a role in lipid storage and mobilization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNPLA5 Knockout HEK293 Cell Line | EDJ-KQ11283 | Human | 150379 | Details Get a Quote |
| PNPLA5 Knockout HCT 116 Cell Line | EDJ-KQ39390 | Human | 150379 | Details Get a Quote |
| PNPLA5 Knockout HeLa Cell Line | EDJ-KQ58662 | Human | 150379 | Details Get a Quote |
| PNPLA5 Knockout A-549 Cell Line | EDJ-KQ67144 | Human | 150379 | Details Get a Quote |
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