TSC2

From Wikipedia, the free encyclopedia

Tuberous sclerosis 2

Identifiers

TSC2; LAM; FLJ43106; TSC4

External IDs

OMIM: 191092 MGI: 102548 HomoloGene: 462

Gene ontology
Molecular Function:	• GTPase activator activity • unfolded protein binding
Cellular Component:	• intracellular • membrane fraction • cytoplasm • cytosol • plasma membrane
Biological Process:	• protein folding • endocytosis • cell cycle • positive regulation of GTPase activity • negative regulation of progression through cell cycle • regulation of insulin receptor signaling pathway • regulation of small GTPase mediated signal transduction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_021055 (mRNA)
NP_066399 (protein)

NM_001039363 (mRNA)
NP_001034452 (protein)

Location

Chr 16: 2.04 - 2.08 Mb

Chr 17: 24.32 - 24.36 Mb

Pubmed search

[1]

[2]

Tuberous sclerosis protein 2, also known as TSC2 and Tuberin, is a human protein and gene.

Mutations in this gene lead to tuberous sclerosis. 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 of the protein.^[1]

[edit] References

^ Entrez Gene: TSC2 tuberous sclerosis 2.

[edit] Further reading

Jones AC, Shyamsundar MM, Thomas MW, et al. (1999). "Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.". Am. J. Hum. Genet. 64 (5): 1305–15. PMID 10205261.
Hengstschläger M (2002). "Tuberous sclerosis complex genes: from flies to human genetics.". Arch. Dermatol. Res. 293 (8): 383–6. PMID 11686512.
Hockenbery DM (2003). "Nailing down a link between tuberin and renal cysts.". Am. J. Pathol. 162 (2): 369–71. PMID 12547695.
Ramesh V (2004). "Aspects of tuberous sclerosis complex (TSC) protein function in the brain.". Biochem. Soc. Trans. 31 (Pt 3): 579–83. doi:10.1042/. PMID 12773159.
Knowles MA, Hornigold N, Pitt E (2004). "Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours.". Biochem. Soc. Trans. 31 (Pt 3): 597–602. doi:10.1042/. PMID 12773163.
Ellisen LW (2007). "Growth control under stress: mTOR regulation through the REDD1-TSC pathway.". Cell Cycle 4 (11): 1500–02. PMID 16258273.
Jozwiak J, Jozwiak S (2007). "Giant cells: contradiction to two-hit model of tuber formation?". Cell. Mol. Neurobiol. 27 (2): 251–61. doi:10.1007/s10571-006-9106-0. PMID 16897363.
Cai SL, Walker CL (2007). "TSC2, a key player in tumor suppression and cystic kidney disease.". Nephrol. Ther. 2 Suppl 2: S119–22. PMID 17373211.
Urban T (2007). "[Pulmonary lymphangioleiomyomatosis with or without tuberous sclerosis]". Revue des maladies respiratoires 24 (6): 725–40. PMID 17632432.