PLIN2

Chr 9

perilipin 2

Also known as: ADFP, ADRP

NCBI Gene: 123ENSG00000147872UniProt: Q99541

The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]

160
ClinVar variants
78
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— PLIN2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
78 Pathogenic / Likely Pathogenic· 75 VUS of 160 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.31LOEUF
pLI 0.000
Z-score 0.62
OE 0.84 (0.55–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.96Z-score
OE missense 1.17 (1.06–1.29)
285 obs / 243.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.84 (0.55–1.31)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.17 (1.06–1.29)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.88
0≤1.21.6
LoF obs/exp: 14 / 16.7Missense obs/exp: 285 / 243.1Syn Z: 0.88

ClinVar Variant Classifications

160 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic73
Likely Pathogenic5
VUS75
Likely Benign5
Benign2
73
Pathogenic
5
Likely Pathogenic
75
VUS
5
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
73
0
73
Likely Pathogenic
0
0
5
0
5
VUS
0
62
13
0
75
Likely Benign
0
4
1
0
5
Benign
0
2
0
0
2
Total068920160

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PLIN2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
PERILIPIN 2; PLIN2
MIM #103195 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
PLIN2 promotes colorectal cancer progression through CD36-mediated epithelial-mesenchymal transition.
Yang F et al.·Cell Death Dis
2025
Lipotoxicity-induced STING1 activation stimulates MTORC1 and restricts hepatic lipophagy.
Liu K et al.·Autophagy
2022
Targeting lipophagy in macrophages improves repair in multiple sclerosis.
Haidar M et al.·Autophagy
2022
Therapeutic siRNA targeting PLIN2 ameliorates steatosis, inflammation, and fibrosis in steatotic liver disease models.
Wang Y et al.·J Lipid Res
2024Functional
Discovery of a carboxyl fullerene derivative as a new lipid droplet regulator inhibiting MASLD.
Zou T et al.·Gut
2026
A novel HIF2A mutation causes dyslipidemia and promotes hepatic lipid accumulation.
Gao F et al.·Pharmacol Res
2023
Accurate liquid biopsy for the diagnosis of non-alcoholic steatohepatitis and liver fibrosis.
Angelini G et al.·Gut
2023
PLIN2 promotes HCC cells proliferation by inhibiting the degradation of HIF1α.
Liu W et al.·Exp Cell Res
2022
Omentin-1 induces mechanically activated fibroblasts lipogenic differentiation through pkm2/yap/pparγ pathway to promote lung fibrosis resolution.
Zhang Y et al.·Cell Mol Life Sci
2023
Blood Transcriptome Signature as Indicator and Predictor for Efficacy of Abrocitinib in Treatment of Atopic Dermatitis.
Wang Y et al.·J Invest Dermatol
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Manganese disrupts lipid droplet autophagy and drives A1 astrocyte activation via the LAMP2-PLIN2 axis through mTOR-p70S6K1 signaling pathway.
Yuan L et al.·Ecotoxicol Environ Saf
2026
Macrophage-specific N-terminal truncation of Plin2 limits the size of lipid droplets.
Tian Y et al.·Biochem J
2026🔓 Open Access
Generation of a PLIN2-GFP2-P2A-Puro human induced pluripotent stem cell line (SEUi001-A) via CRISPR/Cas9-mediated gene editing technology.
Fan M et al.·Stem Cell Res
2026
Cancer-associated fibroblast-derived extracellular vesicles regulate lipophagy through PLIN2 to modulate dormancy in salivary gland adenoid cystic carcinoma cells.
Dou Z et al.·Exp Mol Med
2025🔓 Open Access
Hypobaric hypoxia disrupts brown adipose thermogenic function in mice via Plin2 upregulation.
Hu Y et al.·Diabetes Obes Metab
2026
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools