PLIN2 (Perilipin 2): Lipid Droplet Protein, Adipogenesis, and Disease Associations
A comprehensive biomedical overview of PLIN2, including gene structure, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | PLIN2 |
|---|---|
| Full Name | Perilipin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p22.1 (GRCh38) |
| NCBI Gene ID | 123 ncbi.nlm.nih.gov/gene/123 |
| Ensembl ID | ENSG00000147872 |
| UniProt ID | Q99541 |
| OMIM ID | 603274 |
| HGNC ID | 248 |
| Aliases | ADRP, ADRP, adipophilin, MGC10500 |
Description
PLIN2 (Perilipin 2), also known as adipophilin or adipose differentiation-related protein (ADRP), is a protein coding gene located on chromosome 9p22.1. It encodes a lipid droplet-associated protein that coats intracellular lipid droplets, playing a critical role in lipid storage and metabolism. PLIN2 is widely expressed in various tissues, with high levels in adipose tissue, liver, and macrophages. It is involved in adipogenesis, lipid droplet formation, and fatty acid uptake. Dysregulation of PLIN2 has been linked to metabolic disorders such as non-alcoholic fatty liver disease (NAFLD), atherosclerosis, and obesity, as well as certain cancers. The protein is a member of the perilipin family (PAT family) and is essential for protecting lipid droplets from cytosolic lipases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-alcoholic fatty liver disease (NAFLD) | PLIN2 overexpression promotes hepatic lipid accumulation by stabilizing lipid droplets, contributing to steatosis. | ClinVar, PubMed studies |
| Atherosclerosis | PLIN2 is upregulated in macrophage foam cells, enhancing lipid uptake and retention, promoting plaque formation. | ClinVar, PubMed studies |
| Obesity | PLIN2 expression correlates with adipocyte lipid content; variants may affect lipid storage efficiency. | ClinVar, PubMed studies |
| Hepatocellular carcinoma (HCC) | Elevated PLIN2 expression in HCC tissues is associated with lipid droplet accumulation and tumor progression. | COSMIC, PubMed studies |
| Clear cell renal cell carcinoma (ccRCC) | PLIN2 is overexpressed in ccRCC, linked to lipid accumulation and poor prognosis. | COSMIC, PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | High | High |
| Liver | High | High |
| Small intestine | Medium | Medium |
| Macrophages (blood) | Medium | Medium |
| Skeletal muscle | Low | Low |
| Heart | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | High | Lipid droplet-associated |
| 3T3-L1 (adipocyte precursor) | High | Induced during adipogenesis |
| THP-1 (macrophage) | Medium | Upregulated upon lipid loading |
| MCF7 (breast cancer) | Medium | Lipid droplet formation |
| A549 (lung cancer) | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1052717 (3' UTR variant) | SNV | Allele frequency ~0.3 (global) | May affect mRNA stability; associated with altered lipid metabolism |
| rs35568725 (missense, p.Val244Ile) | SNV | Rare (MAF <0.01) | Potential impact on protein function; clinical significance uncertain |
| c.123C>T (p.Ser41Leu) | Missense | Not reported in large cohorts | Unknown; not in ClinVar |
| Copy number gain (9p22.1) | CNV | Rare | May increase PLIN2 expression; observed in some cancers (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PLIN2 are rare; complete knockout in mice leads to reduced lipid droplet accumulation and altered lipid metabolism, but no major phenotype in humans has been reported.
Gain of Function (GOF)
Gain-of-function mutations or overexpression of PLIN2 enhances lipid droplet formation and lipid storage, contributing to metabolic diseases and cancer progression.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PLIN2.
View complete mutation data：
Gene Ontology (GO)
| • lipid droplet organization | • lipid storage |
| • fatty acid metabolic process | • response to nutrient levels |
| • cellular response to lipid | • protein binding |
| • lipid binding |
Pathways
• PPAR signaling pathway
• Fatty acid metabolism
• Adipogenesis
• Lipid droplet formation
Protein Summary
PLIN2 is a 504-amino acid protein (UniProt Q99541) that belongs to the perilipin family. It is a lipid droplet coat protein that is constitutively associated with lipid droplets. PLIN2 protects lipid droplets from lipase-mediated degradation, thereby promoting lipid storage. It is involved in the regulation of fatty acid uptake and efflux. The protein is localized to the surface of lipid droplets and is highly expressed in adipose tissue, liver, and macrophages. PLIN2 expression is induced during adipocyte differentiation and in response to lipid loading. Post-translational modifications include phosphorylation, which may regulate its function. PLIN2 has been implicated in metabolic diseases and cancer, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLIN2 Knockout HEK293 Cell Line | EDJ-KQ3581 | Human | 123 | Details Get a Quote |
| PLIN2 Knockout A-549 Cell Line | EDJ-KQ25471 | Human | 123 | Details Get a Quote |
| PLIN2 Knockout HCT 116 Cell Line | EDJ-KQ25472 | Human | 123 | Details Get a Quote |
| PLIN2 Knockout HeLa Cell Line | EDJ-KQ25473 | Human | 123 | Details Get a Quote |
| Plin2 Knockout BV-2 Cell Line | EDJ-KZ405 | Mouse | 11520 | Details Get a Quote |
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