PPT2

Chr 6

palmitoyl-protein thioesterase 2

Also known as: C6orf8, G14, PPT-2

NCBI Gene: 9374ENSG00000221988UniProt: Q9UMR5

This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…
0
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.73
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.73LOEUF
pLI 0.005
Z-score 2.41
OE 0.39 (0.22–0.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.05Z-score
OE missense 0.58 (0.49–0.68)
108 obs / 186.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.39 (0.22–0.73)
0≤0.351.4
Missense OE?0.58 (0.49–0.68)
0≤0.61.4
Synonymous OE?0.72
0≤1.21.6
LoF obs/exp: 7 / 18.0Missense obs/exp: 108 / 186.9Syn Z: 1.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPT2 · 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