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 Connections44 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph

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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