PNPLA7

Chr 9

patatin like domain 7, lysophospholipase

Also known as: C9orf111, NTE-R1, NTEL1

NCBI Gene: 375775ENSG00000130653UniProt: Q6ZV29

Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]

474
ClinVar variants
126
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— PNPLA7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
126 Pathogenic / Likely Pathogenic· 278 VUS of 474 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.
1.08LOEUF
pLI 0.000
Z-score 1.00
OE 0.87 (0.71–1.08)
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.
0.69Z-score
OE missense 0.93 (0.88–0.99)
801 obs / 857.9 exp
Tolerant

Mild missense constraint

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.0.87 (0.71–1.08)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.93 (0.88–0.99)
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.1.04
0≤1.21.6
LoF obs/exp: 61 / 70.0Missense obs/exp: 801 / 857.9Syn Z: -0.54

ClinVar Variant Classifications

474 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic113
Likely Pathogenic13
VUS278
Likely Benign29
Benign3
Conflicting4
113
Pathogenic
13
Likely Pathogenic
278
VUS
29
Likely Benign
3
Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
113
0
113
Likely Pathogenic
0
0
13
0
13
VUS
1
265
12
0
278
Likely Benign
0
22
1
6
29
Benign
0
1
1
1
3
Conflicting
—4
Total12881407440

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

View in ClinVar →

Protein Context — Lollipop Plot

PNPLA7 · 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
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
The Patatin-Like Phospholipase Domain Containing Protein 7 Regulates Macrophage Classical Activation through SIRT1/NF-κB and p38 MAPK Pathways.
Zhao Z et al.·Int J Mol Sci
2022
Comprehensive bioinformatics and immunohistochemical analyses identify phosphoinositide metabolism and PNPLA7 as potential biomarkers in urological cancers.
Chen Y et al.·Sci Rep
2025
The phospholipase PNPLA7 functions as a positive indicator in human colorectal and gastric cancers.
Bai Y et al.·Medicine (Baltimore)
2023
RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia.
Vicente-Garcés C et al.·Br J Haematol
2025
Neuropathy target esterase (NTE): overview and future.
Richardson RJ et al.·Chem Biol Interact
2013Review
Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes.
Vrieze SI et al.·Psychophysiology
2014
Effects of maternal obesity on Wharton's Jelly mesenchymal stromal cells.
Badraiq H et al.·Sci Rep
2017
Comprehensive variant analysis of phospholipase A2 superfamily genes in large Chinese Parkinson' s disease cohorts.
Liu J et al.·Mech Ageing Dev
2024Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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