Symbol: Name: ID: |
TSC2 tuberous sclerosis 2 GFS:2170 |
Gene name: | TSC2 |
Chromosome: | 16p13.3 |
Previous Symbols: | TSC4 |
Previous Names: | |
Aliases: | tuberin, LAM |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:102548 | Rat Genome Database ID: | RGD:3908 |
HGNC ID: | HGNC:12363 | RefSeq IDs: | NM_000548 |
Entrez Gene ID: | 7249 | Ensembl Gene ID: | ENSG00000103197 |
VEGA IDs: | OTTHUMG00000128745 | UniProt ID: | P49815 |
UCSC ID: | uc002con.2 | OMIM ID: | 191092 |
Pubmed: | PMID1303246 PMID 7558029 | ||
CCDS IDs: | CCDSCCDS10458.1 CCDS CCDS45384.1 |
Tuberous sclerosis protein 2, also known as TSC2 and Tuberin, is a human protein and gene. 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. [provided by RefSeq].
In complex with TSC1, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. Stimulates weakly the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 in vitro. Mutations in TSC2 lead to constitutive activation of RAP1A in tumors.
Products for TSC2 gene
Catalog | Product Name | Application | Company |
GFS:E02170 | tuberous sclerosis 2; ELISA kit | ELISA | n/a |
GFS:A02170 | tuberous sclerosis 2; Anti | ANTIBODIES | n/a |
GFS:P02170 | tuberous sclerosis 2; Protien | Protien | n/a |