PAFAH2
Platelet Activating Factor Acetylhydrolase 2
Gene Information Card
| Symbol | PAFAH2 |
|---|---|
| Full Name | Platelet Activating Factor Acetylhydrolase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 5051 ncbi.nlm.nih.gov/gene/5051 |
| Ensembl ID | ENSG00000116774 |
| UniProt ID | Q15102 |
| OMIM ID | 603088 |
| HGNC ID | 8579 |
| Aliases | PAF-AH2, PAFAH1B2, MGC138207 |
Description
PAFAH2 encodes an intracellular platelet-activating factor acetylhydrolase (PAF-AH) that catalyzes the hydrolysis of the sn-2 ester bond of platelet-activating factor (PAF) and related pro-inflammatory phospholipids, thereby inactivating them. The enzyme is predominantly cytosolic and plays a role in regulating inflammatory responses and oxidative stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | Reduced PAFAH2 activity may lead to increased PAF levels, promoting airway inflammation and hyperresponsiveness. | PMID: 10627138 |
| Atopic dermatitis | Altered PAF metabolism due to PAFAH2 variants may contribute to skin inflammation. | PMID: 14578949 |
| Neuroinflammation | PAFAH2 deficiency in animal models exacerbates brain inflammation after injury. | PMID: 18434540 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Kidney | 6.5 | Low |
| Liver | 4.2 | Low |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Moderate expression |
| HeLa | 7.8 | Moderate expression |
| SH-SY5Y | 14.2 | High expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153Trp) | Missense | <0.01% (gnomAD) | Reduced catalytic activity in vitro |
| c.832G>A (p.Gly278Arg) | Missense | <0.01% (gnomAD) | Decreased protein stability |
| c.1003C>T (p.Arg335*) | Nonsense | <0.01% (gnomAD) | Loss of function, premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce enzymatic activity or protein stability are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations reported for PAFAH2.
Dominant Negative (DN)
No dominant-negative mutations described for PAFAH2.
View complete mutation data：
Gene Ontology (GO)
| • phospholipid metabolic process | • platelet activating factor metabolic process |
| • inflammatory response | • hydrolase activity |
| • 1-alkyl-2-acetylglycerophosphocholine esterase activity |
Pathways
• Platelet activation
• signaling and aggregation
• Glycerophospholipid metabolism
Protein Summary
PAFAH2 is a 40 kDa cytosolic protein that belongs to the phospholipase A2 family. It specifically hydrolyzes PAF and oxidized phospholipids, terminating their pro-inflammatory signaling. The enzyme is expressed in multiple tissues, with highest levels in brain and testis. Its activity is implicated in asthma, atopic dermatitis, and neuroinflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAFAH2 Knockout HEK293 Cell Line | EDJ-KQ5397 | Human | 5051 | Details Get a Quote |
| PAFAH2 Knockout HCT 116 Cell Line | EDJ-KQ27304 | Human | 5051 | Details Get a Quote |
| PAFAH2 Knockout A-549 Cell Line | EDJ-KQ28542 | Human | 5051 | Details Get a Quote |
| PAFAH2 Knockout HeLa Cell Line | EDJ-KQ28544 | Human | 5051 | Details Get a Quote |
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