PLA2G7

Chr 6

phospholipase A2 group VII

Also known as: LDL-PLA2, LP-PLA2, PAFAD, PAFAH

NCBI Gene: 7941ENSG00000146070UniProt: Q13093

The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]

Primary Disease Associations & Inheritance

UniProtPlatelet-activating factor acetylhydrolase deficiency
117
ClinVar variants
11
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— PLA2G7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 80 VUS of 117 total submissions
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?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.
1.71LOEUF
pLI 0.000
Z-score -1.17
OE 1.26 (0.94–1.71)
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.
-1.05Z-score
OE missense 1.20 (1.08–1.32)
274 obs / 229.1 exp
Tolerant

Tolerant to missense variation

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.1.26 (0.94–1.71)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.20 (1.08–1.32)
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.1.02
0≤1.21.6
LoF obs/exp: 29 / 23.0Missense obs/exp: 274 / 229.1Syn Z: -0.14

ClinVar Variant Classifications

117 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic5
VUS80
Likely Benign20
Benign6
6
Pathogenic
5
Likely Pathogenic
80
VUS
20
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
3
0
2
0
5
VUS
4
71
5
0
80
Likely Benign
0
9
3
8
20
Benign
0
5
1
0
6
Total785178117

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

View in ClinVar →

Protein Context — Lollipop Plot

PLA2G7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Inhibiting PLA2G7 reverses the immunosuppressive function of intratumoral macrophages and augments immunotherapy response in hepatocellular carcinoma.
Zhang F et al.·J Immunother Cancer
2024
PLA2G7 promotes immune evasion of bladder cancer through the JAK-STAT-PDL1 axis.
Peng D et al.·Cell Death Dis
2025
Semaglutide Reprograms Macrophages via the GLP-1R/PPARG/ACSL1 Pathway to Suppress Papillary Thyroid Carcinoma Growth.
Wang L et al.·J Clin Endocrinol Metab
2025
Association of circulating PLA2G7 levels with cancer cachexia and assessment of darapladib as a therapy.
Morigny P et al.·J Cachexia Sarcopenia Muscle
2021
Bioinformatics analysis of PLA2G7 as an immune-related biomarker in COPD by promoting expansion and suppressive functions of MDSCs.
Zhao X et al.·Int Immunopharmacol
2023
Plasma PAF-acetylhydrolase: an unfulfilled promise?
Karabina SA et al.·Biochim Biophys Acta
2006Review
Integrated network pharmacology and metabolomics analysis to reveal the potential mechanism of Ershen Wan in ameliorating ulcerative colitis.
Wang M et al.·J Ethnopharmacol
2025Functional
Therapeutic potential of atorvastatin in ischemic stroke: an investigation into its anti-inflammatory effect by targeting the gut-brain axis.
Chen L et al.·J Transl Med
2025
Bioinformatics Analysis Identifies PLA2G7 as a Key Antigen-Presenting Prognostic Related Gene Promoting Hepatocellular Carcinoma through the STAT1/PD-L1 Axis.
Guo S et al.·Front Biosci (Landmark Ed)
2024
Identification of PLA2G7 as a novel biomarker of diffuse large B cell lymphoma.
Zheng W et al.·BMC Cancer
2021
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