PAFAH1B2 Gene
Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 2
Gene Information Card
| Symbol | PAFAH1B2 |
|---|---|
| Full Name | Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 5049 ncbi.nlm.nih.gov/gene/5049 |
| Ensembl ID | ENSG00000168066 |
| UniProt ID | P68402 |
| OMIM ID | 603487 |
| HGNC ID | 8575 |
| Aliases | PAFAH1B2, MGC104232, PAF-AH 1b subunit beta |
Description
PAFAH1B2 encodes the beta subunit of platelet-activating factor acetylhydrolase 1b, a heterotrimeric enzyme that inactivates platelet-activating factor (PAF) by removing the acetyl group at the sn-2 position. This subunit is catalytically inactive but is required for complex assembly and stability. The gene is located on chromosome 11q23.3 and is expressed in various tissues, with roles in neuronal migration, inflammation, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lissencephaly | PAFAH1B2 mutations disrupt neuronal migration by impairing PAF catabolism, leading to cortical malformations. | ClinVar, OMIM |
| Cancer (various) | Altered PAFAH1B2 expression affects PAF signaling, promoting tumor growth and metastasis. | COSMIC, NCBI |
| Inflammatory disorders | Dysregulation of PAF levels due to PAFAH1B2 deficiency contributes to chronic inflammation. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Liver | 8.5 | Low |
| Kidney | 10.1 | Medium |
| Testis | 18.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Moderate expression |
| HeLa | 11.2 | Moderate expression |
| A549 | 9.8 | Low expression |
| SH-SY5Y | 16.7 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Pro166Leu) | Missense | <0.01% | Reduced protein stability and complex formation |
| c.832G>A (p.Gly278Arg) | Missense | <0.01% | Impaired PAF binding and catalytic activity |
| c.1123_1124del (p.Leu375fs) | Frameshift | <0.01% | Loss of function due to premature truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish PAFAH1B2 activity, leading to PAF accumulation and disrupted signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by interfering with heterotrimer assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
• Metabolism of lipids (Reactome: R-HSA-556833)
• PAF catabolism (KEGG: hsa00565)
Protein Summary
PAFAH1B2 is a 229-amino acid protein (UniProt P68402) that forms the beta subunit of the PAF acetylhydrolase 1b complex. It lacks catalytic activity but stabilizes the complex and mediates interactions with other proteins. The protein is expressed in the cytoplasm and cytosol, with highest levels in testis and brain. It plays a key role in PAF degradation, neuronal migration, and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAFAH1B2 Knockout HEK293 Cell Line | EDJ-KQ5399 | Human | 5049 | Details Get a Quote |
| PAFAH1B2 Knockout A-549 Cell Line | EDJ-KQ28545 | Human | 5049 | Details Get a Quote |
| PAFAH1B2 Knockout HCT 116 Cell Line | EDJ-KQ28546 | Human | 5049 | Details Get a Quote |
| PAFAH1B2 Knockout HeLa Cell Line | EDJ-KQ28547 | Human | 5049 | Details Get a Quote |
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