This webpage was produced as an assignment for Genetics 564, an undergraduate capstone course at the University of Wisconsin-Madison.
tuberous sclerosis 2 [ Homo sapiens (human) ] [NG_005895.1]
The TSC2 gene is located on the tip of the p-arm on Chromosome 16 (16p13.3). It consists of 44 exons. Biallelic loss of TSC2 is the most prevalent cause of tuberous sclerosis complex. This may occur by splice site mutations, nonsense mutations, insertions, deletions, or loss of heterozygosity [2]. Other causes of TSC include biallelic loss of TSC1 and intronic mutations [3].
Reported variants of TSC2 may be viewed on the Leiden Open Variation Database (LOVD) for TSC2. |
Above: TSC2 viewed through the ENSEMBL browser. [link]
[1] Tee AR, Manning BD, Roux PP, Cantley LC, Blenis J (2003) Tuberous sclerosis complex gene products, tuberin and hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb. Curr Biol 13(15), 1259–68. http://doi.org/10.1016/S0960-9822(03)00506-2.
[2] Giannikou K, Malinowska IA, Pugh TJ, Yan R, Tseng Y-Y, Oh C, et al. (2016) Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. PLoS Genet 12(8): e1006242. http://doi.org/10.1371/journal.pgen.1006242
[3] Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, et al. (2015) Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet 11(11): e1005637. http://doi.org/10.1371/journal.pgen.1005637
Image references
Header: https://sites.google.com/site/ccm3action/CCM3Info?overridemobile=true
Fig 1: https://ghr.nlm.nih.gov/gene/TSC2
Fig 2: https://www.ncbi.nlm.nih.gov/gene/7249
[2] Giannikou K, Malinowska IA, Pugh TJ, Yan R, Tseng Y-Y, Oh C, et al. (2016) Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. PLoS Genet 12(8): e1006242. http://doi.org/10.1371/journal.pgen.1006242
[3] Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, et al. (2015) Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet 11(11): e1005637. http://doi.org/10.1371/journal.pgen.1005637
Image references
Header: https://sites.google.com/site/ccm3action/CCM3Info?overridemobile=true
Fig 1: https://ghr.nlm.nih.gov/gene/TSC2
Fig 2: https://www.ncbi.nlm.nih.gov/gene/7249