NPC2 Back

Niemann-Pick disease, type C2

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NCBI Description of NPC2

This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy.

Community Annotation of NPC2 Add / Edit NPC2: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


NPC2 is highly significantly mutated in
NPC2 is significantly mutated in
NPC2 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for NPC2