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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PLA2G4A
phospholipase A2 group IVA
Chromosome 1 Β· 1q31.1
NCBI Gene: 5321Ensembl: ENSG00000116711.11HGNC: HGNC:9035UniProt: B4DZI4
249PubMed Papers
21Diseases
1Drugs
5Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phosphatidylglycerol catabolic processcytosolGolgi membranenuclear envelopecytosolic phospholipase-A2 alpha deficiency associated bleeding disordergastrointestinal ulceration, recurrent, with dysfunctional plateletskidney diseaseschizophrenia
✦AI Summary

PLA2G4A (phospholipase A2 group IVA) is a calcium-dependent enzyme that plays critical roles in membrane lipid remodeling, inflammatory signaling, and cellular stress responses. The enzyme primarily hydrolyzes phospholipids at the sn-2 position to release arachidonic acid, serving as a key precursor for eicosanoid biosynthesis including prostaglandins and leukotrienes 1. PLA2G4A demonstrates significant pathological involvement in neurological disorders, where its activation leads to lysosomal membrane permeabilization (LMP), autophagy dysfunction, and neuronal death following traumatic brain injury and ischemic stroke 23. The enzyme's dysregulation contributes to necroptosis in tissue ischemia through LMP-mediated cellular damage 4. In reproductive biology, PLA2G4A is essential for decidual macrophage function and pregnancy maintenance, with defective lysophosphatidic acid-autophagy signaling increasing miscarriage risk 5. Clinically, PLA2G4A serves as a biomarker for diabetic kidney disease progression and platinum resistance in gastric cancer, where it modulates glycerophospholipid metabolism 67. The enzyme also shows promise as a therapeutic target in non-small cell lung cancer, where its expression correlates with treatment resistance and poor prognosis 8. These findings establish PLA2G4A as a central regulator of cellular metabolism and stress responses with significant therapeutic implications.

Sources cited
1
PLA2G4A is involved in glycerophospholipid metabolism and serves as a lipid-linked target in hyperlipidemia treatment
PMID: 36076294
2
PLA2G4A activation causes lysosomal membrane permeabilization and inhibition of autophagy flux, leading to neuronal death after traumatic brain injury
PMID: 31238788
3
PLA2G4A exacerbates cerebral ischemia-reperfusion injury through bioenergetic disturbance and neuronal damage
PMID: 35547748
4
PLA2G4E (related phospholipase) promotes necroptosis through lysosomal membrane permeabilization in ischemic tissue
PMID: 34872436
5
Defective lysophosphatidic acid-autophagy axis involving phospholipase activity increases miscarriage risk by restricting decidual macrophage residence
PMID: 35220880
6
PLA2G4A is identified as a core death gene and biomarker for diabetic kidney disease progression
PMID: 38104515
7
PLA2G4A modulates lipid profiles via glycerophospholipid metabolism in platinum-resistant gastric cancer
PMID: 38454407
8
PLA2G4A expression in tumor cells correlates with poor prognosis and treatment resistance in non-small cell lung cancer
PMID: 40281576
Disease Associationsβ“˜21
cytosolic phospholipase-A2 alpha deficiency associated bleeding disorderOpen Targets
0.67Moderate
gastrointestinal ulceration, recurrent, with dysfunctional plateletsOpen Targets
0.64Moderate
kidney diseaseOpen Targets
0.31Weak
schizophreniaOpen Targets
0.30Weak
chronic kidney diseaseOpen Targets
0.27Weak
kidney failureOpen Targets
0.27Weak
Hodgkins lymphomaOpen Targets
0.26Weak
gastrointestinal diseaseOpen Targets
0.25Weak
ArthropathyOpen Targets
0.25Weak
immune system diseaseOpen Targets
0.20Weak
glomerulonephritisOpen Targets
0.20Weak
humerus fractureOpen Targets
0.20Weak
diabetes mellitusOpen Targets
0.20Weak
ankylosing spondylitisOpen Targets
0.19Weak
neuropathyOpen Targets
0.17Weak
optic neuritisOpen Targets
0.17Weak
frozen shoulderOpen Targets
0.16Weak
Urethral strictureOpen Targets
0.15Weak
hearing lossOpen Targets
0.15Weak
sialadenitisOpen Targets
0.11Weak
Gastrointestinal ulceration, recurrent, with dysfunctional plateletsUniProt
Pathogenic Variants5
NM_024420.3(PLA2G4A):c.607del (p.Val203fs)Likely pathogenic
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 203
NM_024420.3(PLA2G4A):c.1723G>C (p.Asp575His)Pathogenic
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
β˜†β˜†β˜†β˜†2019β†’ Residue 575
NM_024420.3(PLA2G4A):c.2118+4_2118+7delPathogenic
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
β˜†β˜†β˜†β˜†2019
NM_024420.3(PLA2G4A):c.331T>C (p.Ser111Pro)Pathogenic
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
β˜†β˜†β˜†β˜†2008β†’ Residue 111
NM_024420.3(PLA2G4A):c.1454G>A (p.Arg485His)Pathogenic
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
β˜†β˜†β˜†β˜†2008β†’ Residue 485
View on ClinVar β†—
Drug Targets1
GIRIPLADIBPhase II
Cytosolic phospholipase A2 inhibitor
osteoarthritis
Related Genes
MAPK14Protein interaction100%MAPK3Protein interaction99%PISDProtein interaction97%PLA2G1BProtein interaction97%MAPK1Protein interaction97%PLCG2Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
56%
Ovary
49%
Heart
47%
Brain
15%
Liver
12%
Gene Interaction Network
Click a node to explore
PLA2G4AMAPK14MAPK3PISDPLA2G1BMAPK1PLCG2
PROTEIN STRUCTURE
Preparing viewer…
PDB1RLW Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.19Tolerant
Observed/Expected LoF0.45 [0.25–0.89]
RankingsWhere PLA2G4A stands among ~20K protein-coding genes
  • #1,549of 20,598
    Most Researched249 Β· top 10%
  • #3,477of 5,498
    Most Pathogenic Variants5
  • #7,968of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedPLA2G4A
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Neuronal STAT3/HIF-1Ξ±/PTRF axis-mediated bioenergetic disturbance exacerbates cerebral ischemia-reperfusion injury via PLA2G4A.
PMID: 35547748
Theranostics Β· 2022
1.00
2
PLA2G4A/cPLA2-mediated lysosomal membrane damage leads to inhibition of autophagy and neurodegeneration after brain trauma.
PMID: 31238788
Autophagy Β· 2020
0.90
3
Inhibition of PLA2G4E/cPLA2 promotes survival of random skin flaps by alleviating Lysosomal membrane permeabilization-Induced necroptosis.
PMID: 34872436
Autophagy Β· 2022
0.80
4
The ERK-cPLA2-ACSL4 axis mediating M2 macrophages ferroptosis impedes mucosal healing in ulcerative colitis.
PMID: 38367927
Free Radic Biol Med Β· 2024
0.72
5
Integrated lipidomics and network pharmacology analysis to reveal the mechanisms of berberine in the treatment of hyperlipidemia.
PMID: 36076294
J Transl Med Β· 2022
0.70