TSC2 Back

tuberous sclerosis 2

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NCBI Description of TSC2
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. 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

TSC2 is highly significantly mutated in
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TSC2 is significantly mutated in
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TSC2 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 TSC2