PLIN2

Chr 9

perilipin 2

Also known as: ADFP, ADRP

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]

ResearchGenerating clinical summary…
0
Active trials
208
Pubs (1 yr)
P/LP submissions
P/LP missense
1.31
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.31LOEUF
pLI 0.000
Z-score 0.62
OE 0.84 (0.551.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.96Z-score
OE missense 1.17 (1.061.29)
285 obs / 243.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.84 (0.551.31)
00.351.4
Missense OE?1.17 (1.061.29)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 14 / 16.7Missense obs/exp: 285 / 243.1Syn Z: 0.88

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →