PLIN2
Chr 9perilipin 2
Also known as: ADFP, ADRP
The protein is a structural component of lipid droplets that coats intracellular lipid storage droplets and is required for their formation and maintenance across diverse cell types including adipocytes, fibroblasts, and hepatocytes. Mutations cause Barth syndrome, which follows X-linked inheritance and presents with cardiomyopathy, skeletal myopathy, neutropenia, and growth delays typically manifesting in infancy or early childhood. The gene shows very low constraint against loss-of-function variants (pLI near zero), suggesting haploinsufficiency is unlikely to be pathogenic. Wait, I made an error. Let me check the gene again - PLIN2 is not associated with Barth syndrome. Let me provide only what's supported by the given information. The protein is a structural component of lipid droplets that coats intracellular lipid storage droplets and is required for their formation and maintenance across diverse cell types including adipocytes, fibroblasts, and hepatocytes. The gene shows very low constraint against loss-of-function variants (pLI near zero), but no specific disease associations are provided in
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants 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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools