TSC2
Gene Ontology Biological Process
- Fc-epsilon receptor signaling pathway [TAS]
- cell cycle arrest [TAS]
- endocytosis [TAS]
- epidermal growth factor receptor signaling pathway [TAS]
- fibroblast growth factor receptor signaling pathway [TAS]
- heart development [ISS]
- innate immune response [TAS]
- insulin receptor signaling pathway [TAS]
- insulin-like growth factor receptor signaling pathway [ISS]
- negative regulation of TOR signaling [IBA]
- negative regulation of Wnt signaling pathway [IBA]
- negative regulation of cell proliferation [ISS]
- negative regulation of insulin receptor signaling pathway [IBA]
- negative regulation of phosphatidylinositol 3-kinase signaling [ISS]
- negative regulation of protein kinase B signaling [IBA, ISS]
- negative regulation of protein kinase activity [ISS]
- neural tube closure [ISS]
- neurotrophin TRK receptor signaling pathway [TAS]
- phosphatidylinositol-mediated signaling [TAS]
- positive chemotaxis [ISS]
- positive regulation of Ras GTPase activity [IBA]
- protein import into nucleus [ISS]
- protein kinase B signaling [ISS]
- protein localization [ISS]
- regulation of cell cycle [IBA]
- regulation of endocytosis [ISS]
- regulation of insulin receptor signaling pathway [ISS]
- vesicle-mediated transport [TAS]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
GAPDH
Gene Ontology Biological Process
- carbohydrate metabolic process [TAS]
- cellular response to interferon-gamma [IDA]
- gluconeogenesis [TAS]
- glucose metabolic process [TAS]
- glycolytic process [TAS]
- microtubule cytoskeleton organization [ISS]
- negative regulation of translation [IDA, IMP]
- neuron apoptotic process [ISS]
- peptidyl-cysteine S-trans-nitrosylation [ISS]
- protein stabilization [ISS]
- small molecule metabolic process [TAS]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
- GAIT complex [IDA]
- cytoplasm [IDA, ISS]
- cytosol [IDA, ISS, TAS]
- extracellular vesicular exosome [IDA]
- intracellular membrane-bounded organelle [IDA]
- lipid particle [IDA]
- membrane [IDA]
- microtubule cytoskeleton [ISS]
- nuclear membrane [IDA]
- nucleus [IDA, ISS]
- plasma membrane [IDA]
- ribonucleoprotein complex [IDA]
- vesicle [IDA]
Affinity Capture-MS
An interaction is inferred when a bait protein is affinity captured from cell extracts by either polyclonal antibody or epitope tag and the associated interaction partner is identified by mass spectrometric methods.
Publication
TSC2 GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex.
Tuberous sclerosis complex (TSC) is autosomal dominant neurocutaneous disorder caused by TSC1/2 pathogenic variants. We report a child with refractory epilepsy and developmental delay who harbors a de novo TSC2 p.V1646Cfs*7 variant. To elucidate its functional consequences, we assessed the variant's effects on proteostasis, providing a framework for developing therapeutic strategies addressing the underlying molecular disruptions.The child was identified through ... [more]
Throughput
- High Throughput
Additional Notes
- TSC2 V1646Cfs*7 variant
- Wildtype TSC2
Related interactions
| Interaction | Experimental Evidence Code | Dataset | Throughput | Score | Curated By | Notes |
|---|---|---|---|---|---|---|
| TSC2 GAPDH | Two-hybrid Two-hybrid Bait protein expressed as a DNA binding domain (DBD) fusion and prey expressed as a transcriptional activation domain (TAD) fusion and interaction measured by reporter gene activation. | High | - | BioGRID | - |
Curated By
- BioGRID