Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | TSC2 |
| Gene Name: | TSC2 |
| Protein Full Name: | Tuberin |
| Alias: | LAM; TSC4; Tuberous sclerosis 2; Tuberous sclerosis 2 gene; Tuberous sclerosis 2 homolog protein |
| Mass (Da): | 200608 |
| Number AA: | 1807 |
| UniProt ID: | P49815 |
| Locus ID: | 7249 |
| COSMIC ID: | TSC2 |
| Gene location on chromosome: | 16p13.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 21122 |
| Percent of cancer specimens with mutations: | 1.81 |
| Mutations observed as inherited: | Tuberous sclerosis - tumors of the brain , heart, skin and kidney |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | TSC2 can act as a GTPase-activator for RHEB and a direct activator of mTORC1. By increasing GTPase activity of Ras-related proteins, such as RAP1A and RAB5, and inhibiting their associated cascades, it may have tumour suppressor functions such as inhibiting cell growth. Mutations have led to the constitutive activation of RAP1A in tumors. It is associated with tuberous sclerosis comples, a autosomal dominant disease characterized by seizures, mental retardation, autism, and tumors of the brain, heart, skin, and kidneys. |