NCF2 Back

neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2)

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NCBI Description of NCF2
This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms.

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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).


Legend

NCF2 is highly significantly mutated in
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NCF2 is significantly mutated in
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NCF2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for NCF2