gene 1,894 words KG: NPC2
Contents

NPC2 — NPC Intracellular Cholesterol Transporter 2

🧬 Gene Info
Gene SymbolNPC2
Full NameNPC Intracellular Cholesterol Transporter 2
Chromosome14q11.2
FunctionNPC2 encodes a small lysosomal cholesterol transport protein (Niemann-Pick disease, type C2).
Amino Acids151 aa
PathwaysCholesterol
UniProt IDO15148
NCBI Gene ID10577
Ensembl IDENSG00000119655
OMIM607015
GeneCardsNPC2
Human Protein AtlasNPC2
Associated DiseasesAls, Diabetes, disease, frontotemporal dementia, Parkinson's disease, Type 2 Diabetes
InteractionsABCA1, Actin, APOE, LIPA, MICROGLIA, NPC1
KG Connections43 knowledge graph edges
DatabasesGeneCardsHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Related Hypotheses (13)

Engineered Apolipoprotein E4-Neutralizing Shuttle Peptides
Score: 0.72
Cholesterol-CRISPR Convergence Therapy for Neurodegeneration
Score: 0.62
Selective APOE4 Degradation via Proteolysis Targeting Chimer
Score: 0.79
Competitive APOE4 Domain Stabilization Peptides
Score: 0.78
APOE4 Allosteric Rescue via Small Molecule Chaperones
Score: 0.76
Targeted APOE4-to-APOE3 Base Editing Therapy
Score: 0.76
Selective Acid Sphingomyelinase Modulation Therapy
Score: 0.75
APOE4-Selective Lipid Nanoemulsion Therapy
Score: 0.74
Interfacial Lipid Mimetics to Disrupt Domain Interaction
Score: 0.72
APOE Isoform Conversion Therapy
Score: 0.72
Membrane Cholesterol Gradient Modulators
Score: 0.71
Lysosomal Positioning Dynamics Modulation
Score: 0.69
APOE Isoform Expression Across Glial Subtypes
Score: 0.74

Related Analyses (2)

Lipid raft composition changes in synaptic neurodegeneration
neurodegeneration · completed
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived

Related Experiments (1)

ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40

See Also (12)

Diseases Overview
disease · KG edge: causes
Apoptosis in Neurodegeneration
entity · KG edge: expressed_in
Microglia in Neurodegeneration
entity · KG edge: activates
Genes
index · KG edge: causes
ABCA1 - ATP-Binding Cassette Transporter A1
gene · KG edge: activates

Knowledge Graph (12 edges)

OVERVIEW therapeutic_target NPC2
NPC2 causes SMPD1
NPC2 causes NPC1
SMPD1 causes NPC2
NPC1 causes NPC2
NPC2 causes OVERVIEW
NPC1 associated_with NPC2
SMPD1 associated_with NPC2
NPC2 therapeutic_target OVERVIEW
APOE activates NPC2

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