mechanism 1,071 words KG: ent-gene-12ded35c
Contents

PTK2B→Pyk2→Synaptic Dysfunction→AD Causal Chain

🔬 Protein Info
Gene SymbolPTK2B (Protein Tyrosine Kinase 2 Beta)
Chromosome8p21.1
FunctionNon-receptor tyrosine kinase involved in synaptic plasticity, neuronal signaling, and cytoskeletal regulation
Primary ExpressionHighly expressed in neurons, particularly in hippocampal and cortical regions
Protein NamePyk2 (Proline-Rich Tyrosine Kinase 2)
Odds Ratio~1.10-1.15 per risk allele
Population FrequencyCommon variant (MAF ~20-30%)
Effect SizeModest but consistent across cohorts
MechanismRisk variants may affect gene expression or splicing in brain tissue
N-terminal FERM domainProtein-protein interactions, localization
Proline-rich regionSH3 domain binding (e.g., GRB2, p130Cas)
Kinase domainCatalytic activity (Y402 autophosphorylation site)
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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Knowledge Graph

Related Hypotheses (25)

...
Score: 0.68
The Mitochondrial-Lysosomal Metabolic Coupling Dysfunction
Score: 0.65
APOE-Mediated Synaptic Lipid Raft Stabilization
Score: 0.65
Complement-Mediated Synaptic Pruning Dysregulation
Score: 0.61
Brain Insulin Resistance with Glucose Transporter Dysfunctio
Score: 0.60
← Prevpg 2/2

Related Analyses (30)

Sleep disruption as cause and consequence of neurodegenerati
neurodegeneration · archived
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived
Synaptic pruning by microglia in early AD
neurodegeneration · archived
Tau propagation mechanisms and therapeutic interception poin
neurodegeneration · archived
SEA-AD Gene Expression Profiling — Allen Brain Cell Atlas
neurodegeneration · completed

Related Experiments (5)

Cytochrome Therapeutics
clinical · proposed · Score: 0.40
Microglial TREM2 Agonist In Vivo Efficacy
validation · proposed · Score: 0.45
TREM2 Agonist Therapy for Parkinson's Disease — Experimental
validation · proposed · Score: 0.45
TREM2 Function in Alzheimer's Disease — From Risk Variant to
validation · proposed · Score: 0.45
Experiment: Multi-Ethnic PD GWAS
clinical · proposed · Score: 0.40

Knowledge Graph (1 edges)

ent-gene-12ded35c has_risk_variant rs28834970

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