PNLIPRP2

Chr 10

pancreatic lipase related protein 2 (gene/pseudogene)

Also known as: PLRP2

NCBI Gene: 5408ENSG00000266200UniProt: P54317OMIM: 604423

This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.18LOEUF
pLI 0.000
Z-score 0.91
OE 0.79 (0.54–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.22Z-score
OE missense 0.96 (0.86–1.07)
222 obs / 231.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.54–1.18)
0≤0.351.4
Missense OE?0.96 (0.86–1.07)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 17 / 21.6Missense obs/exp: 222 / 231.3Syn Z: 0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PNLIPRP2 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients