Tsc2 Gene Summary [Mouse]
Enables 14-3-3 protein binding activity and GTPase activator activity. Involved in several processes, including anoikis; chemical synaptic transmission; and negative regulation of TORC1 signaling. Acts upstream of or within several processes, including intracellular protein transport; negative regulation of lymphocyte proliferation; and regulation of signal transduction. Located in cytoplasm. Part of TSC1-TSC2 complex. Is active in lysosomal membrane and synapse. Is expressed in several structures, including aorta; central nervous system; genitourinary system; hemolymphoid system gland; and retina. Used to study autism spectrum disorder; tuberous sclerosis; and uterine fibroid. Human ortholog(s) of this gene implicated in hepatic angiomyolipoma; lymphangioleiomyomatosis; medulloblastoma; tuberous sclerosis; and tuberous sclerosis 2. Orthologous to human TSC2 (TSC complex subunit 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Tsc2 |
| Official Name | TSC complex subunit 2 [Source:MGI Symbol;Acc:MGI:102548] |
| Ensembl ID | ENSMUSG00000002496 |
| Bio databases IDs | |
| Aliases | TSC complex subunit 2 |
| Synonyms | LAM, Nafld, PPP1R160, Rc, Tcs2, TSC4, TSC complex subunit 2, TUBERIN |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Tsc2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Akt phosphorylation site
- Tuberin
- Domain of unknown function (DUF3384)
- heat shock protein binding
- enzyme binding
- GTPase activator
- protein binding
- GTPase Activating Protein domain
- phosphorylation site
- TSC1 binding domain
- Rap/ran-GAP
- binding protein
- protein homodimerization
- phosphatase binding
Pathways
Biological processes and signaling networks where the Tsc2 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- epithelial neoplasia
- cancer
- major depression
- liver cancer
- renal cancer
- head and neck cancer
- liver neoplasia
- abdominal cancer
- metastatic breast cancer
phenotypes
- abnormal autophagy
- abnormal contextual conditioning behavior
- abnormal dendrite morphology
- abnormal dendritic spine morphology
- abnormal embryonic hematopoiesis
- abnormal endocardium morphology
- abnormal heart ventricle morphology
- abnormal response to novel object
- abnormal response to social novelty
- abnormal social investigation
- abnormal spatial learning
- abnormal vascular development
- decreased coping response
- decreased embryo size
- decreased myocardial infarction size
- dilated vasculature
- embryonic growth retardation
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality during organogenesis incomplete penetrance
- enhanced long term potentiation
- heart hyperplasia
- incomplete rostral neuropore closure
- increased adenoma incidence
- increased apoptosis
- increased extremity angiosarcoma incidence
- increased hepatic hemangioma incidence
- increased kidney tumor incidence
- increased lung adenoma incidence
- increased myocardial infarction size
- increased renal carcinoma incidence
- increased renal cystadenoma incidence
- increased tumor incidence
- increased vertical activity
- internal hemorrhage
- kidney cysts
- lethality throughout fetal growth and development complete penetrance
- lethality throughout fetal growth and development incomplete penetrance
- liver hypoplasia
- no abnormal phenotype detected
- open neural tube
- pallor
- prenatal lethality complete penetrance
- preweaning lethality complete penetrance
- thick myocardium
role in cell
- differentiation
- synthesis in
- expression in
- apoptosis
- proliferation
- binding in
- production in
- accumulation in
- activity
- activation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent-insoluble fractions
- glutaminergic synapse
- perinuclear region
- cellular membrane
- Nucleus
- lysosome
- Golgi Apparatus
- cytosol
- caveolae
- lysosome membrane
- growth cone
- neurites
- synapse
- late endosomes
- cellular protrusions
- filopodia
- perikaryon
- dendrites
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Tsc2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of macroautophagy
- positive chemotaxis
- negative regulation of cell proliferation
- protein localization
- insulin-like growth factor receptor signaling pathway
- anoikis
- cellular response to starvation
- regulation of insulin receptor signaling pathway
- endocytosis
- negative regulation of insulin receptor signaling pathway
- negative regulation of protein kinase activity
- heart development
- protein kinase B signaling cascade
- vesicle-mediated transport
- neural tube closure
- regulation of small GTPase mediated signal transduction
- protein import into nucleus
- negative regulation of Wnt receptor signaling pathway
- regulation of endocytosis
- regulation of cell cycle
- negative regulation of TOR signaling cascade
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- nucleus
- perinuclear region of cytoplasm
- cytoplasm
- membrane
- cytosol
- Golgi apparatus
- TSC1-TSC2 complex
- lysosomal membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- phosphatase binding
- protein binding
- protein homodimerization activity
- GTPase activator activity
- small GTPase binding
- Hsp90 protein binding