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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLA2G2C
phospholipase A2 group IIC
Chromosome 1 · 1p36.12
NCBI Gene: 391013Ensembl: ENSG00000187980.7HGNC: HGNC:9032UniProt: Q5R387
5PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signaling receptor bindingcalcium ion bindingphospholipid bindingphosphatidylcholine metabolic processdepressive disorderulcerative colitisinfectious meningitisneurodegenerative disease
✦AI Summary

PLA2G2C encodes a calcium-dependent phospholipase A2 group IIC protein that functions as an inactive phospholipase 1. The gene maps to human chromosome 1-p36.1 and is tightly linked with related phospholipase A2 genes 1. Unlike its rodent ortholog, human PLA2G2C appears to be a nonfunctional pseudogene 1. However, PLA2G2C maintains functional relevance through regulatory mechanisms rather than catalytic activity. Genetic variants in PLA2G2C, particularly rs2301475, influence plasma triglyceride levels during omega-3 polyunsaturated fatty acid supplementation, suggesting involvement in lipid metabolism 2. PLA2G2C expression is induced in response to Aspergillus fumigatus challenge in cystic fibrosis models, implicating it in inflammatory and allergic responses 3. DNA methylation at the PLA2G2C locus (cg04605617) is significantly associated with both arsenic exposure and QT interval prolongation, a cardiac electrophysiological phenotype 45. The methylation quantitative trait locus rs10916683 at cg04605617 acts as a strong eQTL for PLA2G2C, suggesting epigenetic regulation influences gene expression and downstream cardiovascular effects 5. These findings indicate PLA2G2C may serve as a novel therapeutic target for preventing QT interval prolongation and managing environmental toxin exposure.

Sources cited
1
PLA2G2C is a calcium-dependent phospholipase gene mapping to human chromosome 1p34-p36.1, appears to be a nonfunctional pseudogene in humans
PMID: 8838795
2
rs2301475 SNP in PLA2G2C associates with plasma triglyceride levels during n-3 PUFA supplementation
PMID: 25889305
3
PLA2G2C is induced in response to Aspergillus fumigatus in CFTR-deficient models, relevant to allergic bronchopulmonary aspergillosis
PMID: 22985691
4
PLA2G2C methylation (cg04605617) is significantly associated with arsenic exposure, the most significant differentially methylated locus
PMID: 25325195
5
PLA2G2C methylation (cg04605617) causally associates with QT interval prolongation; rs10916683 acts as strong eQTL for PLA2G2C
PMID: 40038836
Disease Associationsⓘ20
depressive disorderOpen Targets
0.30Weak
ulcerative colitisOpen Targets
0.27Weak
infectious meningitisOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.24Weak
gangreneOpen Targets
0.15Weak
azoospermiaOpen Targets
0.09Suggestive
central nervous system infectionOpen Targets
0.08Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.07Suggestive
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
Rare genetic female infertilityOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 3Open Targets
0.06Suggestive
spermatogenic failure 55Open Targets
0.06Suggestive
spermatogenic failure 26Open Targets
0.06Suggestive
spermatogenic failure 31Open Targets
0.06Suggestive
spermatogenic failure 53Open Targets
0.06Suggestive
spermatogenic failure 87Open Targets
0.06Suggestive
habitual abortionOpen Targets
0.06Suggestive
spermatogenic failure 23Open Targets
0.06Suggestive
spermatogenic failure 52Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OC90Shared pathway100%PLA2G2EShared pathway83%CYP2E1Protein interaction81%CYP4F8Protein interaction75%PLB1Protein interaction71%CYP4A22Protein interaction71%
Tissue Expression6 tissues
Brain
100%
Heart
88%
Ovary
88%
Liver
63%
Lung
50%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PLA2G2COC90PLA2G2ECYP2E1CYP4F8PLB1CYP4A22
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5R387
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.42LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.62–1.42]
RankingsWhere PLA2G2C stands among ~20K protein-coding genes
  • #18,460of 20,598
    Most Researched5
  • #14,673of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedPLA2G2C
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Dissecting the causal effects of smoking, alcohol consumption, and related DNA methylation markers on electrocardiographic indices.
PMID: 40038836
Clin Epigenetics · 2025
1.00
2
Association between polymorphisms in phospholipase A2 genes and the plasma triglyceride response to an n-3 PUFA supplementation: a clinical trial.
PMID: 25889305
Lipids Health Dis · 2015
0.83
3
Low-molecular-weight, calcium-dependent phospholipase A2 genes are linked and map to homologous chromosome regions in mouse and human.
PMID: 8838795
Genomics · 1996
0.67
4
Three secretory phospholipase A(2) genes that map to human chromosome 1P35-36 are not mutated in individuals with attenuated adenomatous polyposis coli.
PMID: 8640784
Cancer Res · 1996
0.50
5
Effect of allergy and inflammation on eicosanoid gene expression in CFTR deficiency.
PMID: 22985691
J Cyst Fibros · 2013
0.33