gene

NPC2

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

44Connections

0Hypotheses

0Analyses

25Outgoing

19Incoming

Summary

Page for NPC2 — NPC Intracellular Cholesterol Transporter 2

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🧬 Gene Info

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
Phenotype	Features
Childhood-onset	Hepatosplenomegaly, neurological deterioration
Adult-onset	Psychiatric symptoms, ataxia
Associated Diseases	Als, Diabetes, Parkinson's disease, Type 2 Diabetes, disease, frontotemporal dementia
Interactions	TREM2, TFEB, Actin, APOE, PLIN2, SOAT1
KG Connections	44 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: NPC2 — AlphaFold O15148 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    NPC2["<b>NPC2</b>"]
    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

Outgoing (25)

Target	Relation	Type	Str
Als	associated_with	disease	0.65
Type 2 Diabetes	associated_with	disease	0.65
Diabetes	associated_with	disease	0.65
Neuroinflammation	expressed_in	disease	0.65
Stroke	expressed_in	disease	0.65
Als	expressed_in	disease	0.65
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
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
disease	causes	disease	0.50

Incoming (19)

Source	Relation	Type	Str
OVERVIEW	therapeutic_target	gene	0.60
SMPD1	causes	gene	0.60
NPC1	causes	gene	0.60
APOE	activates	gene	0.60
PLIN2	activates	gene	0.60
SOAT1	activates	gene	0.60
ABCA1	activates	gene	0.60
LIPA	activates	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
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
NPC1	associated_with	protein	0.50
SMPD1	associated_with	gene	0.50

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

NPC2

Understanding Entity Pages

Summary

Wiki Pages (21)

NPC2 — NPC Intracellular Cholesterol Transporter 2

Niemann-Pick Disease Type C (NPC)

Lysosomal Dysfunction in Neurodegeneration

PTCH2 Gene

niemann-pick-disease

Lysosomal Storage Disorders

MLCS Quantification in Parkinson's Disease

Lipid Dysregulation in Neurodegeneration

Endosomal-Lysosomal Pathway in Neurodegeneration

Niemann-Pick Disease Treatment

Lysosomal Enzyme Dysfunction Across Neurodegenerative Diseases

CNBP — Cellular Nucleic Acid Binding Protein

Lysosomal-Impaired Neurons

Cerebral Cholesterol Metabolism

npc1

Lysosomal Storage and Lipid Trafficking Therapy in CBS/PSP

Niemann-Pick Disease Pathway

PSP Lysosomal Dysfunction and Autophagy Impairment

Lysosomal Storage Disorders with Neurodegeneration Comparative Pathway