| Gene Symbol | PTK2B (Protein Tyrosine Kinase 2 Beta) |
| Chromosome | 8p21.1 |
| Function | Non-receptor tyrosine kinase involved in synaptic plasticity, neuronal signaling, and cytoskeletal regulation |
| Primary Expression | Highly expressed in neurons, particularly in hippocampal and cortical regions |
| Protein Name | Pyk2 (Proline-Rich Tyrosine Kinase 2) |
| Odds Ratio | ~1.10-1.15 per risk allele |
| Population Frequency | Common variant (MAF ~20-30%) |
| Effect Size | Modest but consistent across cohorts |
| Mechanism | Risk variants may affect gene expression or splicing in brain tissue |
| N-terminal FERM domain | Protein-protein interactions, localization |
| Proline-rich region | SH3 domain binding (e.g., GRB2, p130Cas) |
| Kinase domain | Catalytic activity (Y402 autophosphorylation site) |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |