cell 532 words KG: ent-gene-0c093647 2026-03-24
kind:cell-typesection:cell-typesstate:published
Contents

PSEN2-Mutant Neurons

🔬 Protein Info
Gene SymbolPSEN2
Full NameMutant Neurons
Chromosome1q42.13
Protein TypeAspartyl protease (catalytic subunit)
FunctionInitial cleavage: APP pre-processed by BACE1 to generate C99
Molecular Weight50 kDa
Amino Acids448 aa
Exons13
PathwaysBlood-Brain Barrier, Cholesterol, Dysbiosis, Epigenetic, Gut Microbiome
UniProt IDO00287
NCBI Gene ID5664
GeneCardsPSEN2
Human Protein AtlasPSEN2
Reduced proteolytic efficiencySome mutations decrease overall gamma-secretase activity
Aβ42 elevationMost PSEN2 mutations increase Aβ42 production
Associated DiseasesAD, ALS, AMI, Aging, Alzheimer
Known Drugs/CompoundsRAPAMYCIN, rapamycin
InteractionsA2M, DHCR24, HMGCR, MAPT, PARP1, PEN2
KG Connections802 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph

Related Hypotheses (5)

Synthetic Biology BBB Endothelial Cell Reprogramming
Score: 0.57
Senescent Cell Mitochondrial DNA Release
Score: 0.54
Astrocytic Lactate Shuttle Enhancement for Grid Cell Bioener
Score: 0.41
Grid Cell-Specific Metabolic Reprogramming via IDH2 Enhancem
Score: 0.38
Age-Dependent Complement C4b Upregulation Drives Synaptic Vu
Score: 0.47

Related Analyses (10)

Selective vulnerability of entorhinal cortex layer II neuron
neurodegeneration · archived
Blood-brain barrier transport mechanisms for antibody therap
neurodegeneration · archived
Senolytic therapy for age-related neurodegeneration
neurodegeneration · archived
Mitochondrial transfer between neurons and glia
neurodegeneration · archived
Mitochondrial transfer between astrocytes and neurons
neurodegeneration · archived

Related Experiments (4)

Metal Ion Homeostasis Dysregulation in Alzheimer's Disease
validation · proposed · Score: 0.40
Neural Stem Cell Therapy for Alzheimer's Disease
clinical · proposed · Score: 0.40
Creation and validation of 3xAD-ChAT-Cre mouse model
validation · proposed · Score: 0.90
Adoptive transfer of TCRAβ-Tregs in AD mouse model
validation · proposed · Score: 0.90

Knowledge Graph (4 edges)

ent-gene-0c093647 data_in ad_genetic_risk_loci:PSEN2
ent-gene-0c093647 data_in benchmark_ot_ad_answer_key:PSEN2
ad_genetic_risk_loci:PSEN2 data_in ent-gene-0c093647
benchmark_ot_ad_answer_key:PSEN2 data_in ent-gene-0c093647