Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about NPC2: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
No AI portrait yet
| Gene Symbol | NPC2 |
| Full Name | NPC Intracellular Cholesterol Transporter 2 |
| Chromosome | 14q11.2 |
| Function | NPC2 encodes a small lysosomal cholesterol transport protein (Niemann-Pick disease, type C2). |
| Amino Acids | 151 aa |
| Pathways | Cholesterol |
| UniProt ID | O15148 |
| NCBI Gene ID | 10577 |
| Ensembl ID | ENSG00000119655 |
| OMIM | 607015 |
| GeneCards | NPC2 |
| Human Protein Atlas | NPC2 |
| Associated Diseases | Als, Diabetes, disease, frontotemporal dementia, Parkinson's disease, Type 2 Diabetes |
| Interactions | ABCA1, Actin, APOE, LIPA, MICROGLIA, NPC1 |
| KG Connections | 44 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
NPC2["NPC2"]
Als{"Als"}
NPC2 -->|"associated_with"| Als
Type_2_Diabetes{"Type 2 Diabetes"}
NPC2 -->|"associated_with"| Type_2_Diabetes
Diabetes{"Diabetes"}
NPC2 -->|"associated_with"| Diabetes
Neuroinflammation{"Neuroinflammation"}
NPC2 -->|"expressed_in"| Neuroinflammation
Stroke{"Stroke"}
NPC2 -->|"expressed_in"| Stroke
OVERVIEW(["OVERVIEW"])
OVERVIEW -->|"therapeutic_target"| NPC2
SMPD1(["SMPD1"])
SMPD1 -->|"causes"| NPC2
GENES(["GENES"])
GENES -->|"causes"| NPC2
NPC1(["NPC1"])
NPC1 -->|"causes"| NPC2
style NPC2 fill:#1a3a4a,stroke:#ce93d8,stroke-width:3px,color:#ce93d8| Target | Relation | Type | Str |
|---|---|---|---|
| Als | expressed_in | disease | 0.65 |
| Neuroinflammation | expressed_in | disease | 0.65 |
| Stroke | expressed_in | disease | 0.65 |
| Als | associated_with | disease | 0.65 |
| Type 2 Diabetes | associated_with | disease | 0.65 |
| Diabetes | associated_with | disease | 0.65 |
| Neuron | expressed_in | cell_type | 0.60 |
| Actin | activates | protein | 0.60 |
| App | therapeutic_target | protein | 0.60 |
| frontotemporal dementia | associated_with | disease | 0.60 |
| Parkinson's disease | associated_with | disease | 0.60 |
| SMPD1 | causes | gene | 0.60 |
| NPC1 | causes | gene | 0.60 |
| OVERVIEW | causes | gene | 0.60 |
| OVERVIEW | therapeutic_target | gene | 0.60 |
| TREM2 | activates | gene | 0.60 |
| SMPD1 | associated_with | gene | 0.60 |
| TFEB | activates | gene | 0.60 |
| PHAGOCYTOSIS | expressed_in | gene | 0.60 |
| Lipid Metabolism | expressed_in | pathway | 0.60 |
| Phagocytosis | expressed_in | pathway | 0.60 |
| Cholesterol | activates | pathway | 0.60 |
| Apoptosis | expressed_in | pathway | 0.60 |
| Microglia | activates | cell_type | 0.60 |
| disease | causes | disease | 0.50 |
| Source | Relation | Type | Str |
|---|---|---|---|
| PLIN2 | activates | gene | 0.60 |
| SOAT1 | activates | gene | 0.60 |
| NPC1 | causes | gene | 0.60 |
| SMPD1 | causes | gene | 0.60 |
| APOE | activates | gene | 0.60 |
| ABCA1 | activates | gene | 0.60 |
| LIPA | activates | gene | 0.60 |
| GENES | causes | gene | 0.60 |
| AND | causes | gene | 0.60 |
| STROKE | expressed_in | gene | 0.60 |
| MICROGLIA | activates | gene | 0.60 |
| APOPTOSIS | expressed_in | gene | 0.60 |
| OVERVIEW | therapeutic_target | gene | 0.60 |
| NPC1 | inhibits | gene | 0.60 |
| NPC1 | activates | gene | 0.60 |
| CNBP | associated_with | gene | 0.60 |
| DMPK | associated_with | gene | 0.60 |
| SMPD1 | associated_with | gene | 0.50 |
| NPC1 | associated_with | protein | 0.50 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||
Multi-agent debates referencing this entity
No debates reference this entity
Hypotheses and analyses mentioning NPC2 in their description or question text
No additional research found