HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PAFAH1B2
platelet activating factor acetylhydrolase 1b catalytic subunit 2
Chromosome 11 · 11q23.3
NCBI Gene: 5049Ensembl: ENSG00000168092.15HGNC: HGNC:8575UniProt: P68402
69PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeprotein bindingpositive regulation of macroautophagycytosolneurodegenerative diseaseobesityhypertensionHypercholesterolemia
✦AI Summary

PAFAH1B2 encodes the alpha2 catalytic subunit of cytosolic platelet-activating factor acetylhydrolase 1b (PAF-AH Ib), which hydrolyzes the acetyl group at the sn-2 position of PAF and related phospholipids 1. The enzyme functions as part of a heterotetrameric complex with regulatory and catalytic subunits, where different subunit compositions affect substrate specificity 1. PAFAH1B2 plays a critical role in aspirin metabolism, as it represents the major aspirin hydrolase in human erythrocytes, with activity varying 3-fold among individuals and correlating with PAFAH1B2 levels 12. The enzyme also functions extracellularly in plasma as a homomeric form, contributing to aspirin hydrolysis alongside butyrylcholinesterase 2. In cancer contexts, PAFAH1B2 is overexpressed in pancreatic ductal adenocarcinoma as a HIF1α target gene, promoting epithelial-mesenchymal transition, migration, invasion, and metastasis 3. In breast cancer, cathepsin G induces PAFAH1B2 expression, leading to enhanced PAF degradation and suppressed PAF receptor signaling, which promotes malignant cell migration and aggregation 4. Alternative splicing produces testis-specific isoforms with altered catalytic properties 5.

Sources cited
1
PAFAH1B2 is the major aspirin hydrolase in erythrocytes and its activity varies among individuals
PMID: 21844189
2
PAFAH1B2 exists as homomeric form in plasma and contributes to aspirin hydrolysis
PMID: 23508960
3
PAFAH1B2 is a HIF1α target gene overexpressed in pancreatic cancer promoting metastasis
PMID: 29758199
4
PAFAH1B2 expression is induced by cathepsin G in breast cancer cells, suppressing PAF signaling
PMID: 35462067
5
Alternative splicing produces testis-specific PAFAH1B2 isoforms with different catalytic properties
PMID: 18155631
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
obesityOpen Targets
0.30Weak
hypertensionOpen Targets
0.29Weak
HypercholesterolemiaOpen Targets
0.27Weak
hypothyroidismOpen Targets
0.24Weak
myxedemaOpen Targets
0.24Weak
metabolic diseaseOpen Targets
0.23Weak
hyperlipidemiaOpen Targets
0.22Weak
pancreatic ductal adenocarcinomaOpen Targets
0.19Weak
pancreatic carcinomaOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.18Weak
bladder transitional cell carcinomaOpen Targets
0.18Weak
brain glioblastomaOpen Targets
0.18Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.18Weak
clear cell renal carcinomaOpen Targets
0.18Weak
colon adenocarcinomaOpen Targets
0.18Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.18Weak
Hepatobiliary NeoplasmOpen Targets
0.18Weak
kidney neoplasmOpen Targets
0.18Weak
rectal adenocarcinomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NDE1Protein interaction98%LPCAT2Protein interaction96%LPCAT1Protein interaction96%LPCAT4Protein interaction93%PLA2G7Protein interaction93%PAFAH2Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
79%
Heart
56%
Ovary
35%
Lung
34%
Liver
33%
Gene Interaction Network
Click a node to explore
PAFAH1B2NDE1LPCAT2LPCAT1LPCAT4PLA2G7PAFAH2
PROTEIN STRUCTURE
Preparing viewer…
PDB1VYH · 3.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.73Intermediate
Observed/Expected LoF0.32 [0.17–0.67]
RankingsWhere PAFAH1B2 stands among ~20K protein-coding genes
  • #6,828of 20,598
    Most Researched69
  • #4,947of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedPAFAH1B2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PAFAH1B2 is a HIF1a target gene and promotes metastasis in pancreatic cancer.
PMID: 29758199
Biochem Biophys Res Commun · 2018
1.00
2
Integrating plasma proteomes with genome-wide association data for causal protein identification in multiple myeloma.
PMID: 37775746
BMC Med · 2023
0.90
3
Exclusion of the alpha2 subunit of platelet-activating factor acetylhydrolase 1b (PAFAH1B2) as a prothrombotic gene in a protein C-deficient kindred and population-based case-control sample.
PMID: 17849047
Thromb Haemost · 2007
0.80
4
Selective inhibitor of platelet-activating factor acetylhydrolases 1b2 and 1b3 that impairs cancer cell survival.
PMID: 25602368
ACS Chem Biol · 2015
0.70
5
Cathepsin G-induced malignant progression of MCF-7 cells involves suppression of PAF signaling through induced expression of PAFAH1B2.
PMID: 35462067
Biochim Biophys Acta Mol Cell Biol Lipids · 2022
0.60