PLIN4: Perilipin 4 - Lipid Droplet-Associated Protein
Comprehensive genomic and proteomic analysis of PLIN4, a key regulator of lipid storage and metabolism.
Gene Information Card
| Symbol | PLIN4 |
|---|---|
| Full Name | Perilipin 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 729359 ncbi.nlm.nih.gov/gene/729359 |
| Ensembl ID | ENSG00000167676 |
| UniProt ID | Q96Q06 |
| OMIM ID | 612120 |
| HGNC ID | 24893 |
| Aliases | KIAA1881, S3-12 |
Description
PLIN4 (Perilipin 4) is a protein-coding gene located on chromosome 19p13.3. It encodes perilipin 4, a member of the perilipin family of proteins that coat lipid droplets in adipocytes and other cells. Perilipin 4 plays a critical role in lipid droplet formation, stabilization, and lipolysis regulation. It is highly expressed in adipose tissue and is involved in energy homeostasis and metabolic processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered PLIN4 expression may affect lipid storage and adipocyte function, contributing to obesity risk. | Association studies (PMID: 21778273) |
| Metabolic Syndrome | Dysregulation of perilipin 4 can impair lipid metabolism, linked to insulin resistance and dyslipidemia. | GWAS (PMID: 25673435) |
| Lipodystrophy | Mutations in PLIN4 may disrupt lipid droplet integrity, leading to abnormal fat distribution. | Case reports (PMID: 23418305) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 58.2 | High |
| Heart | 12.1 | Medium |
| Skeletal muscle | 8.5 | Medium |
| Liver | 3.4 | Low |
| Kidney | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Adipocytes (differentiated) | 45.6 | High expression in mature fat cells |
| 3T3-L1 preadipocytes | 2.3 | Low before differentiation |
| HeLa | 0.8 | Negligible |
| HepG2 | 1.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs888821 | SNP | 0.15 (MAF) | Associated with altered lipid metabolism |
| c.124G>A (p.Gly42Arg) | Missense | Rare | Potential impact on lipid droplet binding |
| c.487C>T (p.Arg163Trp) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PLIN4.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lipid droplet (GO:0005811) | • lipid storage (GO:0019915) |
| • lipid homeostasis (GO:0055088) | • cytoplasm (GO:0005737) |
| • protein binding (GO:0005515) |
Pathways
• Regulation of lipolysis in adipocytes (Reactome: R-HSA-163560)
• Lipid droplet metabolism (Reactome: R-HSA-8979227)
Protein Summary
Perilipin 4 (UniProt Q96Q06) is a 1404-amino acid protein that localizes to the surface of lipid droplets. It contains a PAT domain (perilipin, ADRP, TIP47) essential for lipid droplet targeting. Perilipin 4 protects lipid droplets from lipolysis under basal conditions and facilitates hormone-sensitive lipase access upon stimulation. It is predominantly expressed in white adipose tissue and plays a key role in triacylglycerol storage and mobilization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLIN4 Knockout HEK293 Cell Line | EDJ-KQ14804 | Human | 729359 | Details Get a Quote |
| PLIN4 Knockout HCT 116 Cell Line | EDJ-KQ45230 | Human | 729359 | Details Get a Quote |
| PLIN4 Knockout HeLa Cell Line | EDJ-KQ60746 | Human | 729359 | Details Get a Quote |
| PLIN4 Knockout A-549 Cell Line | EDJ-KQ69215 | Human | 729359 | Details Get a Quote |
