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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PAFAH2
platelet activating factor acetylhydrolase 2
Chromosome 1 · 1p36.11
NCBI Gene: 5051Ensembl: ENSG00000158006.15HGNC: HGNC:8579UniProt: Q99487
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
1-alkyl-2-acetylglycerophosphocholine esterase activitycytoplasmplatelet-activating factor acetyltransferase activityendoplasmic reticulum membranePallister-Hall syndromepediatric hepatocellular carcinomaneonatal hemochromatosisnonpapillary renal cell carcinoma
✦AI Summary

PAFAH2 (platelet-activating factor acetylhydrolase 2) is a phospholipase that catalyzes hydrolysis of the acetyl group at the sn-2 position of platelet-activating factor (PAF) and oxidized phospholipids, leading to their inactivation 1. The enzyme also exhibits transacetylation activity, producing plasmalogen analogs and ceramide derivatives 1. PAFAH2 demonstrates marked selectivity for phospholipids with short acyl chains at the sn-2 position 1. Beyond PAF metabolism, PAFAH2 selectively detoxifies truncated oxidized phospholipids (Tr-OxPLs), protecting cells from oxidative stress-induced injury 2. In disease contexts, PAFAH2 suppresses synchronized ferroptosis in acute kidney injury by degrading PAF and PAF-like phospholipids that propagate cell death 3. PAFAH2 knockout exacerbates ischemia/reperfusion-induced kidney injury, while protein administration prevents tubular cell death and nephron loss 3. Additionally, PAFAH2 regulates ferroptosis resistance in KEAP1-mutant cancers through oxidized phospholipid detoxification 4. PAFAH2 produces omega-3 epoxides in mast cells that suppress pulmonary vascular remodeling and pulmonary hypertension 5. In inflammation, PAFAH2 overexpression blocks TNFα-induced apoptosis by metabolizing truncated phospholipids 6. Finally, PAFAH2 is implicated in premature ovarian failure pathways involving necroptosis 7.

Sources cited
1
PAFAH2 catalyzes hydrolysis of acetyl groups at sn-2 position of PAF and exhibits transacetylation activity
PMID: 9494101
2
PAFAH2 protects tissue from oxidative stress-induced injury through metabolism of oxidized phospholipids including 8-iso-PGF2α
PMID: 18024956
3
PAFAH2 suppresses synchronized ferroptosis in acute kidney injury; knockout exacerbates I/R-induced AKI; wild-type protein administration prevents tubular cell death
PMID: 38287154
4
PAFAH2 detoxifies membrane-bound oxidized phospholipids in KEAP1-mutant cancers to confer ferroptosis resistance
PMID: 40600963
5
PAFAH2 produces omega-3 epoxides in mast cells that negatively regulate pulmonary hypertension; Pafah2 deletion exacerbates vascular remodeling
PMID: 35641514
6
PAFAH2 overexpression blocks TNFα-induced apoptosis by hydrolyzing truncated oxidized phospholipids
PMID: 22433871
7
PAFAH2 expression reduces endothelial cell dysfunction caused by truncated oxidized phospholipids; inhibition augments acute lung injury
PMID: 30521374
8
PAFAH2 is identified as a necroptosis-related gene associated with premature ovarian failure
PMID: 38062819
Disease Associationsⓘ20
Pallister-Hall syndromeOpen Targets
0.06Suggestive
pediatric hepatocellular carcinomaOpen Targets
0.04Suggestive
neonatal hemochromatosisOpen Targets
0.03Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.03Suggestive
pulmonary arterial hypertensionOpen Targets
0.02Suggestive
acute kidney injuryOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
HypercalcemiaOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.00Suggestive
acneOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
heart failureOpen Targets
0.00Suggestive
leukemiaOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
pulmonary hypertensionOpen Targets
0.00Suggestive
SepsisOpen Targets
0.00Suggestive
meningeal tuberculosisOpen Targets
0.00Suggestive
cytomegalovirus infectionOpen Targets
0.00Suggestive
chronic rhinosinusitis with nasal polypsOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LPCAT2Protein interaction96%LPCAT1Protein interaction96%PLA2G2AProtein interaction94%LPCAT4Protein interaction93%PLA2G7Protein interaction93%PLAAT3Protein interaction92%
Tissue Expression6 tissues
Liver
100%
Heart
57%
Lung
48%
Brain
33%
Ovary
30%
Bone Marrow
27%
Gene Interaction Network
Click a node to explore
PAFAH2LPCAT2LPCAT1PLA2G2ALPCAT4PLA2G7PLAAT3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q99487
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.64–1.12]
RankingsWhere PAFAH2 stands among ~20K protein-coding genes
  • #15,338of 20,598
    Most Researched16
  • #11,515of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedPAFAH2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PAFAH2 suppresses synchronized ferroptosis to ameliorate acute kidney injury.
PMID: 38287154
Nat Chem Biol · 2024
1.00
2
Unveiling Circular RNA-Mediated Regulatory Mechanisms in Necroptosis in Premature Ovarian Failure.
PMID: 38062819
Front Biosci (Landmark Ed) · 2023
0.90
3
Phospholipase PAFAH2 Mediates Ferroptosis Surveillance and Lipid Remodeling to Promote Resistance in KEAP1 Mutant Cancers.
PMID: 40600963
ACS Chem Biol · 2025
0.80
4
PMID: 23658952
0.70
5
Genetic study of intracranial aneurysms.
PMID: 25649796
Stroke · 2015
0.60