Property Summary

NCBI Gene PubMed Count 285
PubMed Score 933.52
PubTator Score 617.62

Knowledge Summary


No data available


  Differential Expression (3)

Disease log2 FC p
astrocytoma 1.100 4.5e-02
subependymal giant cell astrocytoma -1.915 1.0e-02
ovarian cancer 1.100 1.1e-04

 GWAS Trait (1)

Protein-protein Interaction (2)

Gene RIF (220)

27060308 TSC1 and TSC2 mutations are associated with tuberous sclerosis.
26868506 Lysosomal recruitment of TSC2 is a universal response to stimuli that inactivate mTORC1, and that the presence of any single stress is sufficient to cause TSC2 lysosomal localization.
26742086 By interfering with TSC-Rheb complex, arginine relieves allosteric inhibition of Rheb by TSC. Arginine cooperates with growth factor signaling which further promotes dissociation of TSC2 from lysosomes and activation of mTORC1.
26728384 Data show that 10 pathogenic mutations were quickly identified, 7 were located in tuberous sclerosis 1 protein (TSC1) and 3 were observed in tuberous sclerosis 2 protein (TSC2).
26563443 results confirm the consistent finding of TSC2 mutations in LAM samples, and highlight the benefit of laser capture microdissection and in-depth allele analyses for detection, such as NGS
26540169 TSC-related tumors can increase the mutation detection rate, indicate that it is not likely that a third TSC gene exists, and enable provision of genetic counseling to the substantial population of TSC individuals who are currently NMI
26412398 PAK2 is a direct effector of TSC1-TSC2-RHEB signaling and a new target for rational drug therapy in TSC.
26408672 IQ/DQ correlates inversely with predicted levels and/or deleterious biochemical effects of mutant TSC1 or TSC2 protein in tuberous sclerosis complex.
26393489 Tuberous sclerosis is a syndrome caused by dominant mutations in Tuberin (TSC2),causing Autism spectrum disorder - like behaviors, seizures, intellectual disability and characteristic brain and skin lesions.
26318033 AKT3 has a role in prostate cancer proliferation through regulation of Akt, B-Raf, and TSC1/TSC2
26252095 A novel frame-shifting mutation c.4258-4261delTCAG in the TSC2 gene is associated with tuberous sclerosis in a Chinese family.
25972538 pUL38 can activate mTORC1 in both TSC2-dependent and -independent manners.
25927202 previously unidentified TSC1 and TSC2 mutations in tuberous sclerosis complex
25782670 Results confirm strong association between TSC2 mutation and angiomyolipoma burden, and they indicate that everolimus response occurs regardless of mutation type or location or when no mutation in TSC1 or TSC2 has been identified.
25780943 these results demonstrate that TSC2-deficient cells have enhanced choline phospholipid metabolism and reveal a novel function of the TSC proteins in choline lysoglycerophospholipid metabolism
25724664 Data shows frequent loss of TSC2 in hepatocellular carcinoma cells (HCC) and that TSC2-null cell lines were more sensitive to mTOR inhibition by everolimus suggesting that TSC2 loss is a predictive biomarker for the response to everolimus in HCC patients.
25654764 TSC2/mTORC1 signaling contributes to the maintenance of intestinal epithelium homeostasis by regulating Notch activity.
25565629 PLK1 protein levels are increased in hamartin and tuberin deficient cells and Lymphangioleiomyomatosis patient-derived specimens, and that this increase is rapamycin-sensitive.
25563326 a novel frame shift Tuberous Sclerosis Complex-2 Mutation in three patients with Tuberous sclerosis complex but with different severity of symptoms
25498131 Compared to patients with TSC1 mutations, individuals with TSC2 mutations had a significantly higher frequency of epilepsy and tended to have a higher frequency of infantile spasms.
25476905 In TSC2-deficient angiomyolipoma patient cells, IRF7 is a pivotal factor in the Rheb/mTOR pathway.
25432535 Multiple mutations in TSC2 during kidney development lead to severe phenotype of multifocal renal cell carcinoma.
25355409 A short segment of chromosome 16 encodes the tumor suppressor gene tuberin as well as the protein polycystin 1, which are responsible for tuberous sclerosis complex type 2 and autosomal-dominant polycystic kidney disease type 1, respectively.
25281918 This is the first mutation and multiplex ligation-dependent probe amplification (MLPA) analyses of TSC2 in Korean Angiomyolipomas that focus on tuberous sclerosis complex.
25185584 This study demonstrates that TSC2-deficient tumor cells are hypersensitive to oxidative stress-dependent cell death, and provide critical proof of concept that TSC2-deficient cells can be therapeutically targeted
25114899 Studied conditions that increase the sensitivity of cancer cells to MK-2206. and found reduction by salinomycin of Akt and downregulation of pAkt, pGSk3beta, pTSC2, and p4EBP1 by cotreatment with MK-2206.
24917535 TSC2 mutations are associated with a more severe, earlier presenting tuberous sclerosis complex phenotype.
24794161 study describes 2 cases of genetically proven TCS2, sharing the same genotype; detected a novel, small and in frame deletion/insertion TSC2 mutation on exon 30 (c.3664_3665delinsTT-p.Asp1222Phe)
24748662 TSC2 also functions as a transcription factor.
24698169 In children with tuberous sclerosis complex, nonsense mutations in the TSC2 gene had a correlation with autistic behavior.
24683199 Two novel gross deletions of TSC2 gene in Malay patients with tuberous sclerosis complex and TSC2/PKD1 contiguous gene deletion syndrome, respectively.
24606538 The features of alpha-smooth muscle cells of a patient affected by lymphangioleiomyomatosis associated with Tuberous sclerosis complex, named LAM/TSC cells, bearing a TSC2 mutation and an epigenetic defect causing the absence of tuberin, were investigated.
24599401 Findings indicate that neuronal Tsc1/2 complex activity is required for the coordinated regulation of autophagy by AMPK.
24529380 These data suggest that regulation of TSC2 subcellular localization may be a general mechanism to control its activity and place TSC2 in the amino-acid-sensing pathway to TORC1.
24444419 oxidative stress induces Tnfaip8 l1/Oxi-beta, which results in increased autophagy by its exclusive binding with FBXW5 to stabilize TSC2
24398473 Covalent modification of TSC2 by iNOS-derived NO is associated with impaired TSC2/TSC1 dimerization, mTOR pathway activation, and proliferation of human melanoma.
24318044 This work indicates a novel role for this TSC2 gene, which encodes an activator of cell proliferation in response to androgen stimulation.
24271014 TSC2 somatic second-hit mutations are associated with angiofibroma development in tuberous sclerosis.
24077282 Alpha B-crystallin has an essential role in TSC1/2 complex deficiency-mediated tumorigenesis.
24075384 Prenatal diagnosis of an intrathoracic lesion with a family history of parental epilepsy should raise a suspicion of fetal cardiac rhabdomyoma and tuberous sclerosis.
23947572 Data show growth-inhibitory and proapoptotic effects of simvastatin on TSC2-null lymphangioleiomyomatosis cells compared with atorvastatin.
23878397 Data indicate that sunitinib inhibited TORC1 in endothelial cells in a Tsc1/Tsc2-dependent manner
23878245 Data indicate a nitrosative-stress signaling pathway that engages ATM, LKB1, AMPK and TSC2 tumor suppressors to repress mTORC1 and regulate autophagy.
23867796 OPG stimulated proliferation of cells cultured from explanted LAM lungs, and selectively induced migration of lymphangioleiomyomatosis cells identified by the loss of heterozygosity for TSC2.
23846400 An increased frequency of C>G/G>C and C>T/G>A mutations in the coding strand was found in TSC2.
23818547 Pim2 directly phosphorylates TSC2 on Ser-1798 and relieves the suppression of TSC2 on mTOR-C1, leading to multiple myeloma cells proliferation.
23689538 Our results suggest that tuberin and p27 are aberrantly expressed in malignant breast tissue
23389244 No differences emerged in mutation distributions and types in precedent studies, excepting low frequency of the TSC2 nonsense mutation
23348097 Our results suggest that XLID CUL4B mutants are defective in promoting TSC2 degradation and positively regulating mTOR signaling in neocortical neurons.
23254740 Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex.
23217510 Genetic investigation of the coding exons of TSC1 and TSC2 revealed a 4 bp deletion at nucleotides 3693-3696 in exon 30 of the TSC2 gene.
22903760 Data suggest that different, nonterminating TSC2 mutations can have distinct effects on TSC1-TSC2 function, and therefore, on Tuberous sclerosis complex (TSC) pathology.
22867869 Missense mutations located in the central region of TSC2 (exons 23-33) are associated with significantly reduced incidence of infantile spasms.
22795129 The TSC1-TSC2-TBC1D7 (TSC-TBC) complex is the functional complex that senses specific cellular growth conditions and possesses Rheb-GAP activity.
22707510 Patient with TSC2 1801A>G mutation was found to have five facial features of TSC, including a rash of facial angiofibromas, a shagreen patch, a forehead plaque, gingival fibromas, and dental pitting.
22608477 TSC2 mutations are more frequent in patients with retinal findings than in those without retinal findings.
22490766 This study presented that the mutation rate of the TSC1 and TSC2 genes in Korean patients with tuberous sclerosis complex was 100%.
22456611 Perivascular epithelioid cell tumors with TFE3 gene fusions demonstrated intact, robust tuberin protein labeling and no TSC2 loss of heterozygosity.
22287548 The results defined the TSC2-mTOR pathway as a key determinant in the differentiation of monocytes into M2 phenotype tumor-associated macrophages that promote angiogenesis.
22251200 Patients with mutations in TSC2 tended to have a higher frequency of hepatic angiomyolipomas than those with mutations in TSC1 or those with no mutations detected.
22189265 TSC2 protein-truncating mutations and small in-frame mutations are associated with distinctly different intelligence profiles, providing further evidence that different types and locations of TSC germline mutations
22090422 study found tuberin and PRAS40 to be potent anti-apoptotic gatekeepers in early mammalian stem-cell differentiation; data allow new insights into the regulation of early stem-cell maintenance and differentiation and identify a new role of the tumor suppressor tuberin and the oncogenic protein PRAS40
21949787 Mutations in TSC2 is associated with angiomyolipoma.
21910228 Two females cases with typical manifestations of Tuberous sclerosis complex, horseshoe kidney, and an identical variant c.5138G>A in exon 39 (p.Arg1713His) of TSC2 gene.
21900748 Tuberin regulates the cellular localization of cyclin B1.
21846442 Eighty percent of cardiac rhabdomyomas are associated with tuberous sclerosis. In this case, molecular testing for tuberous sclerosis identified two variants in the TSC2 gene.
21795849 ULK1 negatively regulates the kinase activity of mTORC1 and cell proliferation in a manner independent of Atg5 and TSC2
21784859 Redox regulates mammalian target of rapamycin complex 1 (mTORC1) activity by modulating the TSC1/TSC2-Rheb GTPase pathway.
21555252 This study suggested that allelic imbalances of TSC2 in nonlesional focal epileptic tissue.
21533174 presence of TSC2 mutations, in addition to TSC1 mutations, underlines the involvement of mTOR signaling in urothelial carcinoma
21449900 In a cohort of tuberous sclerosis patients, there was a trend towards greater severity for patients with TSC2 mutations compared with their TSC1 counterparts, particularly for autistic spectrum disorder
21419848 Tuberous sclerosis complex protein TSC2 plays a critical role in Purkinje cell survival by regulating endoplasmic reticulum and oxidative stress.
21412983 TSC1, TSC2 and Rheb function independently of TORC1 in tuberous sclerosis complex.[Review]
21407201 Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis.
21345208 results support the possibility that allele-specific variation in TSC mRNA expression contributes to the variable severity of symptoms in tuberous sclerosis complex patients
21332470 TSC2 R1200W variant, and four other TSC2 missense variants associated with a mild TSC phenotype, confirmed that the changes disrupted the TSC1-TSC2 function. The TSC1-TSC2 interaction was not affected by the amino acid substitution.
21329690 REVIEW: TSC signaling in the CNS
21309039 Functional assessment of variants in the TSC2 genes identified in individuals with Tuberous Sclerosis Complex
21252315 study identified six TSC2 mutations, one indel, one nonsense, and four missense in pancreatic neuroendocrine tumors
21243421 Rattus norvegicus and Mus musculus TSC1 and TSC2 showed very high similarity to the human sequences, this was not the case for Danio rerio, Drosophila melanogaster, Strongylocentrotus purpuratus, Schizosaccharomyces pombe or Disctyostelium discoideum.
21145542 Increased expression of tuberin in human uterine leiomyoma.
21134130 TSC2 binds to the death domain of DAPK. This interaction is required for TSC2 to reduce DAPK protein levels and half-life. DAPK is regulated by the lysosome pathway. Lysosome inhibition blocks TSC2-mediated degradation of DAPK.
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
21036916 Lymphangioleiomyomatosis is characterized by cystic lung destruction, resulting from proliferation of smooth-muscle-like cells, which have mutations in the tumor suppressor gene TSC2.
20882401 These findings establish a mouse model for TSC-related anxiety phenotypes and suggest that anxiety disorders in TSC have a biological foundation.
20818424 Rheb controls proliferation of TSC2-deficient cells by a mechanism that involves regulation of AMPK and p27, and that Rheb is a potential target for TSC/LAM therapy.
20671064 One of the targets of HtrA1 activity during fetal development is the TSC2-TSC1 pathway.
20658316 analysis of polymorphic variants in TSC1 and TSC2 and their association with breast cancer phenotypes
20658316 Observational study of gene-disease association. (HuGE Navigator)
20639436 Lymphangioleiomyomatosis (LAM), occurring sporadically (S-LAM) or in patients with tuberous sclerosis complex (TSC), results from abnormal proliferation of LAM cells exhibiting mutations or loss of heterozygosity (LOH) of the TSC genes, TSC1 or TSC2.
20622004 Observational study of gene-disease association. (HuGE Navigator)
20605525 The rare occurrence of complete loss of TSC1/TSC2 function in human tumors suggests that retaining growth suppressor activity might be beneficial during tumour evolution, perhaps by promoting survival when cells grow in a nutrient-limited environment.
20530489 TSC2 has a role in controlling cell polarity and migration by regulating CDC42 and RAC1 activation
20453000 Observational study of gene-disease association. (HuGE Navigator)
20363874 AMPK functions to inhibit IGF-I-stimulated PI3K pathway activation through stimulation of IRS-1 serine 794 phosphorylation.
20354165 Observational study of gene-disease association. (HuGE Navigator)
20304964 p22(phox)-based Nox oxidases maintain HIF-2alpha protein expression through inactivation of tuberin and downstream activation of ribosomal protein S6 kinase 1/4E-BP1 pathway
20237422 These findings link TACC3 to novel structural and cell division functions of TSC2.
20219685 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20160076 results identify a cytoplasmic pathway for ROS-induced ATM activation of TSC2 to regulate mTORC1 signaling and autophagy, identifying an integration node for the cellular damage response
20146692 In the brain, TSC2 has been implicated in cell body size, dendritic arborization, axonal outgrowth and targeting, neuronal migration, cortical lamination, and spine formation [REVIEW].
20145209 ARD1 functions as an inhibitor of the mTOR pathway and that dysregulation of the ARD1-TSC2-mTOR axis may contribute to cancer development
20042714 Tuberin-null cells become nonadherent and invasive and these nonadherent cells express cleaved forms of beta-catenin.
19443708 that methylation of the TSC2 promoter might cause a complete loss of tuberin in TSC2 cells.
19422538 mineralized focal cortical dysplasias with balloon cells revealed an increased frequency of TSC2 allelic variants but not TSC1
19419980 Conducted a retrospective review of the chest computed tomography (CT) of 45 female and 20 male patients with tuberous sclerosis complex (TSC) and found cysts consistent with Lymphangioleiomyomatosis (LAM) in 22 (49%) women and two (10%) men.
19395678 found increased MMP-2 expression in cells lacking TSC1/TSC2 compared with their respective controls
19357198 A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles
19357198 AKT activity is downregulated when Tsc1/Tsc2 function is reduced.
19332694 Cyst-like cortical tubers in the brain are strongly associated with TSC2 gene mutation in tuberous sclerosis complex.
19332694 Observational study of gene-disease association. (HuGE Navigator)
19265534 The data suggest that tuberin and OGG1 are important proteins in the pathogenesis of angiomyolipoma in tuberous sclerosis complex patients.
19259131 Data suggest that the three mutations were most likely de novo, as parents of affected patients did not present any features of TSC.
19250671 Hypermethylation and downregulation of TSC2 gene is associated with acute myeloid leukemia.
19175396 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
19058789 Observational study of gene-disease association. (HuGE Navigator)
19005330 TSC2 which codes for tuberin plays a central role in regulating cell survival and proliferation signaling pathways
18974095 a novel interaction between DAPK and TSC2 proteins that has revealed a positive link between growth factor stimulation of DAPK and mTORC1 signaling that may ultimately affect autophagy, cell survival, or apoptosis.
18958173 Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation.
18926585 Dysregulation of the TSC-mTOR pathway may cause not only tumor development but also metabolic disorders such as diabetes and its comp
18848473 These data identify the TSC2-mTOR pathway as a key regulator of innate immune homeostasis with broad clinical implications for infectious and autoimmune diseases, vaccination, cancer, and transplantation.
18807177 This study suggests a pivotal role of PI3 K, MAPK and mTOR pathways, via tuberin, in post-transcriptional control of CXCR4
18794346 results reveal key roles of TSC1/TSC2 in neuronal polarity, suggest a common pathway regulating polarization/growth in neurons and cell size in other tissues, and have implications for the understanding of the pathogenesis of TSC
18794342 in addition to the kinase LKB1, the Tsc1-Tsc2 complex, acting through TORC1, also modulates SAD to regulate axon formation
18538015 Involvement of TSC genes and other members of the mTOR signaling pathway in the pathogenesis of oral squamous cell carcinoma. LOH and promoter methylation are two important mechanisms for downregulation of TSC genes.
18451215 Inactivation of TSC2 via loss of expression or phosphorylation occurred frequently in endometrial carcinoma to activate mTOR signaling
18411301 the TSC1-TSC2 complex inhibits mTORC1 and activates mTORC2, which through different mechanisms promotes Akt activation
18381890 Results indicate that FBW5-DDB1-CUL4-ROC1 is an E3 ubiquitin ligase regulating TSC2 protein stability and TSC complex turnover.
18368626 loss of tuberin in balloon cells of both cortical dysplasia type IIB in tuberous sclerosis complex (TSC)-related and sporadic patients suggests that Focal cortical dysplasia type IIB may represent the focal form of TSC.
18342602 Data show that loss of TSC1 or TSC2 in cell lines and mouse or human tumors causes endoplasmic reticulum (ER) stress and activates the unfolded protein response (UPR).
18320306 Results suggest that tuberin dysfunction may represent a mechanism for neuronal damage in Alzheimer's disease (AD), Parkinson's disease with dementia (PD/DLB), and a mouse model of PD.
18302728 Functional characterisation of TSC2 variants can help identify pathogenic changes in individuals with tuberous sclerosis complex, and assist in the diagnosis and genetic counselling of the index cases and/or other family members
18094073 IFNbeta augments TSC2-dependent inhibition of TSC2-null ELT3 and human lymphangioleiomyomatosis-derived cell proliferation.
18085521 Our observations of frequent deletion of TSC2 and the mTOR signalling pathway provide evidence that the oncogenetic lineage of PEComa, as a distinct TSC2-linked neoplasm, is similar to that of angiomyolipoma.
18060739 Analysis of 15 tuberous sclerosis patient samples in which deletions in TSC2 extended into PKD1 showed no evidence of clustering of breakpoints near the polypyrimidine tract
18032745 Patients with a TSC1 mutation are more likely to have a less severe neurologic and cognitive phenotype than those with a TSC2 mutation.
17989114 Tuberin regulates a specific DNA repair enzyme, OGG1. This regulation may be important in the pathogenesis of kidney tumors in patients with tuberous sclerosis complex.
17975002 CD44v6-positive sorted lymphangioleiomyomatosis cells showed loss of heterozygosity at the TSC2 locus; binding of CD44v6 antibody resulted in loss of cell viability.
17922028 This is the first description of a functional interaction between the tumor suppressor tuberin and the oncogene Ras in regulating apoptosis.
17888633 novel tandem-duplication mutation od TSC2 in Chinese tuberous sclerosis patient
17671177 Erk-mediated TSC2 phosphorylation occurred at a high incidence and positively correlated with mitogen activated protein kinase and mammalian target of rapamycin activation in Tuberous Sclerosis and cancers
17632432 Pulmonary lymphangioleiomyomatosis can appear sporadically or be associated with tuberous sclerosis with abnormalities of the TSC2 suppressor gene.
17592551 Angiomyolipoma-derived smooth muscle TSC2-/- cells express survivin when exposed to IGF-1. Survivn expression is also triggered whenever culture conditions perturb normal TSC2-/- cell function.
17470459 p27 localization during the mammalian cell cycle is under the control of the tumor suppressor tuberin
17458623 study presents the cytoplasmic/nuclear distribution of tuberin in cell lines
17373211 implications for the development of cystic kidney disease [REVIEW]
17304050 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17287951 We conclude that large deletions in TSC1 and TSC2 account for about 0.5 and 6% of mutations seen in TSC patients, respectively, and MLPA is a highly sensitive and accurate detection method, including for mosaicism.
17273797 During conditions of cell stress, GADD34 forms a stable complex with tuberous sclerosis complex (TSC) 1/2, causes TSC2 dephosphorylation, and inhibits signaling by mammalian target of the rapamycin (mTOR).
17234746 These functional data indicate that the Crumbs complex is a potential regulator of the mTORC1 pathway, cell metabolism and survival through a direct interaction with TSC1/2.
17114346 These findings suggest a link between tuberin nuclear localization and a variety of intracellular signaling events that have direct implications with respect to the role of tuberin in the pathology of tuberous sclerosis and lymphangioleiomyomatosis.
17114181 mTOR-dependent pathways have roles in IFN signaling and 4E-BP1 and TSC1-TSC2 are key components in the generation of IFN-dependent biological responses
17018601 The TSC/Rheb/mTOR pathway plays a critical role in the regulation of E(2)-induced proliferation.
16940165 documents the incidence, natural history, and outcome of cardiac tumors in patients with TSC in the largest series yet reported and provides a comparison of these features with TSC1 versus TSC2 mutation
16905638 Fractionation of synchronized airway smooth cells showed that tuberin enters the nucleus in late G(1), and passage through the cell cycle is necessary for nuclear entry.
16897363 According to Knudson's two-hit model of tumorigenesis, second-hit mutation and resulting loss of heterozygosity of a tumor suppressor gene (tsc1 and tsc2) is necessary for tumor formation
16835931 mutation in the TSC2 gene has a role in acrochordons and pancreatic islet-cell tumors in tuberous sclerosis [case report]
16624901 The genome of Schizosaccharomyces pombe contains tsc1(+) and tsc2(+), homologs of human Tsc1 and Tsc2, respectively. Deletion of either tsc1(+) or tsc2(+) affects gene induction upon nitrogen starvation.
16554133 Denaturing high performance liquid chromatography and DNA sequencing analysis of TSC1 and TSC2 revealed 13 types of mutations (30%). Nine novel mutations of TSC2 were identified.
16537497 Overexpression of TSC2 rescues the migration phenotype of myr-Akt1-expressing tumor cells, and high levels of TSC2 in breast cancer patients correlate with increased metastasis and reduced survival.
16388022 TSC2 may play a critical role in modulating cell migration and invasiveness, which contributes to the pathobiology of LAM.
16341938 Data show that tuberin protein levels are decreased in the frontal cortex of patients with Alzheimer's disease.
16258273 Tuberous sclerosis tumor suppressors TSC1 and TSC2 form a protein complex that integrates and transmits cellular growth factor and stress signals to negatively regulate checkpoint kinase TOR activity, as described in this review.
16237225 patient should be considered as having Subependymal giant cell astrocytoma that developed from two somatic hit mutations in TSC2
16213898 Reduced expression of tuberin might be involved in the progression of pancreatic cancer.
16211238 study provides new insights into cellular roles of TSC proteins and promotes discussion on whether separable functions of these proteins might be associated with clinical differences of TSC1- and TSC2-associated disease
16192644 Growth of smooth muscle cells derived from TSC2-renal angiomyolipoma demonstrates that epidermal growth factor is required.
16053916 investigation of the ability of different opioid receptors to regulate the phosphorylation and degradation of tuberin
15963462 identified three sites of TSC2 phosphorylation and a novel site of TSC1 phosphorylation, and investigated the roles of these sites in regulating the activity of the TSC1-TSC2 complex
15874888 Observational study of gene-disease association. (HuGE Navigator)
15851026 Erk may modulate mTOR signaling and contribute to disease progression through phosphorylation and inactivation of TSC2.
15798777 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15647351 monitored 14 previously uncharacterized and six known phosphorylation events after phorbol ester stimulation in the ERK/p90 ribosomal S6 kinase-signaling targets, TSC1 and TSC2, and a protein kinase C-dependent pathway to TSC2 phosphorylation
15624760 Five of 6 subependymal giant cell astrocytomas(SEGAs) also showed evidence of biallelic mutation of TSC1 or TSC2, suggesting that SEGAs develop due to complete loss of a functional tuberin-hamartin complex.
15595939 A total of 12 mutations were detected in 24 Indian TSC families in TSC genes.
15579767 data suggest that PGE2 signaling may promote endometrial tumorigenesis by inactivation of tuberin after its phosphorylation via the Akt signaling pathway
15477556 Cortical tuber giant cells in a case of epileptogenic tuberous sclerosis showed predominantly nuclear hamartin, cytosolic tuberin, and hyperphosphorylation of S6.
15355997 Tuberin has a role in binding p27 and negatively regulating its interaction with Skp2
15340059 To investigate the function of TSC2 and Rheb in mTOR signaling, we analyzed the TSC2-stimulated Rheb GTPase activity.
15231735 Peutz-Jeghers syndrome and other benign tumor syndromes could be caused by dysregulation of the TSC2 pathway
15175323 Binding with HPV16 E6 causes the proteasome-mediated degradation of Tuberin
15150271 inhibition of B-Raf kinase via Rheb is an mTOR-independent function of tuberin
15072102 tsc2 gene expression is reduced in the majority of subependymal giant cell astrocytomas
15066998 Tuberin (TSC2) interact with smad2/smad3 during TGF-beta1 growth regulation.
15059224 Down regulation or loss of tuberin and/or hamartin expression may be permissive to fibrocyte proliferation or promote collagen production leading to fibroepithelial polyp formation.
14985384 people with TSC2 mutations were significantly more likely than those with TSC1 mutations to have autistic disorder, a low IQ, and a history of infantile spasms; low IQ was independently associated with both TSC2 mutations and a history of infantile spasm
14871804 A novel mechanism of post-translational inactivation of the TSC2 protein, tuberin, by physiologically inappropriate phosphorylation is demonstated.
14756965 Observational study of gene-disease association. (HuGE Navigator)
14756965 TSC2 gene, which is responsible for tuberous sclerosis was identified, and all the exons of TSC2 were analyzed by using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) from peripheral blood of 28 patients .
14680818 Western blot analyses confirmed the deregulation of 14-3-3 proteins upon ectopic overexpression of TSC1 and TSC2.
14559897 the TSC1.TSC2 complex is regulated by pam and its ortholog highwire
14551205 data support a model in which phosphorylation of hamartin regulates the function of the hamartin-tuberin complex during the G2/M phase of the cell cycle
12894220 Human TSC2 triggers mammalian cell size reduction and a dominant-negative TSC2 mutant induces increased size.
12869586 TSC2 is a Rheb GAP
12842888 TSC2 binds to rheb and has a role in S6 kinase activation
12820960 TSC2 is a GAP for rheb and insulin-mediated rheb activation is PI3K dependent.
12773163 mutated in sporadic tumors (REVIEW)
12773162 Mutated in tuberous sclerosis.
12773159 mutated in suberous sclerosis (REVIEW).
12766909 We conclude that the hamartin/tuberin complex exerted a direct effect on the morphology and adhesive properties of 293 cells through regulation of the level and/or activity of cellular E-cadherin/beta-catenin
12711473 Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma.
12582162 MK2 phosphorylates TSC2, which creates a 14-3-3 binding site and thus regulates the cellular function of the TSC2 tumor suppressor protein
12581886 Estrogen action induces tyrosine phosphatase activity that regulates stability of tuberin, which may play a crucial role in cellular specific functions such as endocytosis.
12547695 A link exists between this protein and kidney diseases
12468542 TSC2 expression is regulated by 14-3-3 beta in human cells
12364343 associates with 14-3-3 in vivo
12271141 hamartin and tuberin function together to inhibit mammalian target of rapamycin (mTOR)-mediated signaling to eukaryotic initiation factor 4E-binding protein 1 (4E-BP1) and ribosomal protein S6 kinase 1 (S6K1)
12176984 tuberin binds with 14-3-3 zeta to regulate phosphorylation of ribosomal protein S6
12172553 TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling.
12127687 effect on EHEN-induced renal and hepatocarcinogenesis in the suppressor gene transgenic rats
12062115 TSC1 and TSC2 mutations in tuberous sclerosis - used DHPLC analysis to facilitate the detection of a mosaic mutation, in the presence of a coexisting constitutional polymorphism.
12015165 Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
11836366 Fluorescence in situ hybridization analysis in a patient with an acrofacial dysostosis-like phenotype, tuberous sclerosis, and polycystic kidney disease shows a microdeletion of approximately 280 kb including the TSC2 gene on chromosome 16p13.3.
11811958 calmodulin signaling in the propagation of this TSC2 activity
11781698 Detected two sequence changes involving the TSC2 stop codon.
11686512 negative regulators of cell division; control of transition from G0/G1 to S phase
11403047 missense mutation in the GTPase activating protein homology region in families with tuberous sclerosis complex
11112665 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence


Text Mined References (299)

PMID Year Title
27060308 2016 [Detection of TSC1/TSC2 gene mutations among patients with tuberous sclerosis complex by Ion Torrent semiconductor sequencing].
26868506 2016 Lysosomal recruitment of TSC2 is a universal response to cellular stress.
26742086 2016 Control of TSC2-Rheb signaling axis by arginine regulates mTORC1 activity.
26728384 2016 [Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].
26563443 2016 Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.
26540169 2015 Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
26412398 2015 PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex.
26408672 2015 Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.
26393489 2015 Shared functional defect in IP?R-mediated calcium signaling in diverse monogenic autism syndromes.
26318033 2015 AKT3 promotes prostate cancer proliferation cells through regulation of Akt, B-Raf, and TSC1/TSC2.
26252095 2015 [Analysis of TSC gene mutation in a patient with tuberous sclerosis].
25972538 2015 Tuberous Sclerosis Complex Protein 2-Independent Activation of mTORC1 by Human Cytomegalovirus pUL38.
25936802 2015 The ubiquitination of rag A GTPase by RNF152 negatively regulates mTORC1 activation.
25927202 2015 Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
25782670 2015 Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
25780943 2015 Tuberous sclerosis complex 2 loss increases lysophosphatidylcholine synthesis in lymphangioleiomyomatosis.
25724664 2015 Loss of Tuberous Sclerosis Complex 2 (TSC2) Is Frequent in Hepatocellular Carcinoma and Predicts Response to mTORC1 Inhibitor Everolimus.
25654764 2015 TSC2/mTORC1 signaling controls Paneth and goblet cell differentiation in the intestinal epithelium.
25565629 2015 Pharmacological inhibition of Polo-like kinase 1 (PLK1) by BI-2536 decreases the viability and survival of hamartin and tuberin deficient cells via induction of apoptosis and attenuation of autophagy.
25563326 2015 A Chinese tuberous sclerosis complex family and a novel tuberous sclerosis complex-2 mutation.
25498131 2014 Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.
25476905 2014 Analysis of gene expression array in TSC2-deficient AML cells reveals IRF7 as a pivotal factor in the Rheb/mTOR pathway.
25432535 2015 A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
25355409 2015 Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.
25281918 2014 The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.
25185584 2015 High-throughput drug screen identifies chelerythrine as a selective inducer of death in a TSC2-null setting.
25114899 2014 Sensitization of cancer cells through reduction of total Akt and downregulation of salinomycin-induced pAkt, pGSk3?, pTSC2, and p4EBP1 by cotreatment with MK-2206.
24917535 2014 Severity of manifestations in tuberous sclerosis complex in relation to genotype.
24794161 2014 A novel TSC2 mutation causing tuberless tuberous sclerosis.
24748662 2014 Evidence that TSC2 acts as a transcription factor and binds to and represses the promoter of Epiregulin.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24698169 2015 The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex.
24683199 2014 Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.
24606538 2014 TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage-independent survival.
24599401 2014 Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1.
24529380 2014 Regulation of TORC1 in response to amino acid starvation via lysosomal recruitment of TSC2.
24444419 2014 Tnfaip8 l1/Oxi-? binds to FBXW5, increasing autophagy through activation of TSC2 in a Parkinson's disease model.
24398473 2014 Inducible nitric oxide synthase drives mTOR pathway activation and proliferation of human melanoma by reversible nitrosylation of TSC2.
24318044 2014 A novel androgen-regulated isoform of the TSC2 tumour suppressor gene increases cell proliferation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24271014 2014 Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
24255178 2013 Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions.
24077282 2014 Pivotal role of augmented ?B-crystallin in tumor development induced by deficient TSC1/2 complex.
24075384 2013 Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy.
23947572 2013 Statins in lymphangioleiomyomatosis. Simvastatin and atorvastatin induce differential effects on tuberous sclerosis complex 2-null cell growth and signaling.
23878397 2013 Platelet-derived growth factor/vascular endothelial growth factor receptor inactivation by sunitinib results in Tsc1/Tsc2-dependent inhibition of TORC1.
23878245 2013 Reactive nitrogen species regulate autophagy through ATM-AMPK-TSC2-mediated suppression of mTORC1.
23867796 2013 Osteoprotegerin contributes to the metastatic potential of cells with a dysfunctional TSC2 tumor-suppressor gene.
23846400 2013 Frequency of TSC1 and TSC2 mutations in American, British, Polish and Taiwanese populations.
23818547 2013 Pim2 is required for maintaining multiple myeloma cell growth through modulating TSC2 phosphorylation.
23689538 2013 Tuberin and p27 expression in breast cancer patients with or without BRCA germline mutations.
23389244 2013 Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.
23348097 2013 XLID CUL4B mutants are defective in promoting TSC2 degradation and positively regulating mTOR signaling in neocortical neurons.
23254740 Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23217510 2012 Bilateral keratoconus in tuberous sclerosis: is there a molecular link?
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22903760 2013 Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
22795129 2012 TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.
22707510 2012 Constellation of five facial features of tuberous sclerosis in a child with a TSC2 1808A>G mutation.
22608477 2012 Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings.
22490766 2012 Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.
22456611 2012 Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction.
22287548 2012 Macrophage-induced tumor angiogenesis is regulated by the TSC2-mTOR pathway.
22251200 2012 Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis.
22189265 2012 Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
22090422 2012 Tuberin and PRAS40 are anti-apoptotic gatekeepers during early human amniotic fluid stem-cell differentiation.
21949787 2011 Angiomyolipoma have common mutations in TSC2 but no other common genetic events.
21910228 2011 Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.
21900748 2011 The tumor suppressor tuberin regulates mitotic onset through the cellular localization of cyclin B1.
21846442 2011 A rare case of cardiac rhabdomyomas in a dizygotic twin pair.
21795849 2011 ULK1 inhibits the kinase activity of mTORC1 and cell proliferation.
21784859 2011 Redox regulates mammalian target of rapamycin complex 1 (mTORC1) activity by modulating the TSC1/TSC2-Rheb GTPase pathway.
21555252 2011 Genetic analysis of tuberous-sclerosis genes 1 and 2 in nonlesional focal epilepsy.
21533174 2011 A systematic study of gene mutations in urothelial carcinoma; inactivating mutations in TSC2 and PIK3R1.
21449900 2011 An Australian tuberous sclerosis cohort: are surveillance guidelines being met?
21419848 2011 Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration.
21412983 2011 Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis.
21407201 2011 Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21345208 2011 Evidence for population variation in TSC1 and TSC2 gene expression.
21332470 2012 Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
21329690 2011 TSC1/TSC2 signaling in the CNS.
21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
21269460 2011 Initial characterization of the human central proteome.
21252315 2011 DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.
21243421 2011 Conservation of structural and functional elements of TSC1 and TSC2: a bioinformatic comparison across animal models.
21145542 2011 Increased expression of tuberin in human uterine leiomyoma.
21134130 2011 Tuberous sclerosis-2 (TSC2) regulates the stability of death-associated protein kinase-1 (DAPK) through a lysosome-dependent degradation pathway.
21048031 2011 Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
21036916 2011 Erythropoietin-driven proliferation of cells with mutations in the tumor suppressor gene TSC2.
20882401 2011 Increased levels of anxiety-related behaviors in a Tsc2 dominant negative transgenic mouse model of tuberous sclerosis.
20834067 2010 Joint influence of small-effect genetic variants on human longevity.
20818424 2010 Rheb activates AMPK and reduces p27Kip1 levels in Tsc2-null cells via mTORC1-independent mechanisms: implications for cell proliferation and tumorigenesis.
20671064 2010 The serine protease HtrA1 specifically interacts and degrades the tuberous sclerosis complex 2 protein.
20658316 2011 Polymorphic variants in TSC1 and TSC2 and their association with breast cancer phenotypes.
20639436 2010 Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis.
20622004 2010 Genetic variation in a metabolic signaling pathway and colon and rectal cancer risk: mTOR, PTEN, STK11, RPKAA1, PRKAG2, TSC1, TSC2, PI3K and Akt1.
20618440 2010 Proteomic and biochemical analysis of 14-3-3-binding proteins during C2-ceramide-induced apoptosis.
20605525 2010 Tuberous sclerosis complex: linking cancer to metabolism.
20530489 2010 Tuberous sclerosis complex 2 (TSC2) regulates cell migration and polarity through activation of CDC42 and RAC1.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20412061 2010 Insulin like growth factor-1-induced phosphorylation and altered distribution of tuberous sclerosis complex (TSC)1/TSC2 in C2C12 myotubes.
20363874 2010 AMP-activated protein kinase inhibits IGF-I signaling and protein synthesis in vascular smooth muscle cells via stimulation of insulin receptor substrate 1 S794 and tuberous sclerosis 2 S1345 phosphorylation.
20354165 2010 Energy balance, the PI3K-AKT-mTOR pathway genes, and the risk of bladder cancer.
20304964 2010 The NADPH oxidase subunit p22phox inhibits the function of the tumor suppressor protein tuberin.
20237422 2010 TACC3-TSC2 maintains nuclear envelope structure and controls cell division.
20219685 2010 Pathway-based approaches to imaging genetics association studies: Wnt signaling, GSK3beta substrates and major depression.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20169165 2010 SIRT1 negatively regulates the mammalian target of rapamycin.
20169078 2010 Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR.
20160076 2010 ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS.
20146692 2010 The tuberous sclerosis complex.
20145209 2010 ARD1 stabilization of TSC2 suppresses tumorigenesis through the mTOR signaling pathway.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20042714 2010 The loss of tuberin promotes cell invasion through the ß-catenin pathway.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19443708 2009 The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells.
19422538 2009 Increased frequency of distinct TSC2 allelic variants in focal cortical dysplasias with balloon cells and mineralization.
19419980 2009 TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19395678 2010 Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells.
19389623 2009 Docking motif-guided mapping of the interactome of protein phosphatase-1.
19357198 2009 A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.
19332694 2009 Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex.
19265534 2009 Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients.
19259131 2009 Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
19250671 2009 Aberrant expression of TSC2 gene in the newly diagnosed acute leukemia.
19175396 2009 Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
19058789 2009 A common variant in DRD3 receptor is associated with autism spectrum disorder.
19005330 2008 Tuberous sclerosis complex: disease modifiers and treatments.
18974095 2009 Peptide combinatorial libraries identify TSC2 as a death-associated protein kinase (DAPK) death domain-binding protein and reveal a stimulatory role for DAPK in mTORC1 signaling.
18958173 2008 Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation. Possible treatment options for TSC and LAM.
18926585 2008 Role of TSC-mTOR pathway in diabetic nephropathy.
18848473 2008 The TSC-mTOR signaling pathway regulates the innate inflammatory response.
18807177 2009 Post-transcriptional regulation of chemokine receptor CXCR4 by estrogen in HER2 overexpressing, estrogen receptor-positive breast cancer cells.
18794346 2008 Tuberous sclerosis complex proteins control axon formation.
18794342 2008 The Tsc1-Tsc2 complex influences neuronal polarity by modulating TORC1 activity and SAD levels.
18692468 2008 p53 target genes sestrin1 and sestrin2 connect genotoxic stress and mTOR signaling.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18538015 2008 Involvement of TSC genes and differential expression of other members of the mTOR signaling pathway in oral squamous cell carcinoma.
18451215 2008 Loss of tuberous sclerosis complex-2 function and activation of mammalian target of rapamycin signaling in endometrial carcinoma.
18411301 2008 The TSC1-TSC2 complex is required for proper activation of mTOR complex 2.
18407068 2008 Human cytomegalovirus protein UL38 inhibits host cell stress responses by antagonizing the tuberous sclerosis protein complex.
18381890 2008 WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase.
18368626 2008 Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type.
18342602 2008 Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis.
18320306 2008 Role of tuberin in neuronal degeneration.
18308511 2008 Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling.
18302728 2008 Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
18094073 2008 Interferon beta augments tuberous sclerosis complex 2 (TSC2)-dependent inhibition of TSC2-null ELT3 and human lymphangioleiomyomatosis-derived cell proliferation.
18085521 2008 Constant allelic alteration on chromosome 16p (TSC2 gene) in perivascular epithelioid cell tumour (PEComa): genetic evidence for the relationship of PEComa with angiomyolipoma.
18060739 2008 Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.
18032745 2008 Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17989114 2008 Tuberin regulates the DNA repair enzyme OGG1.
17979178 2007 A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes.
17975002 2007 TSC2 loss in lymphangioleiomyomatosis cells correlated with expression of CD44v6, a molecular determinant of metastasis.
17922028 2008 Ras mediates cell survival by regulating tuberin.
17888633 2008 A novel mutation (insTCCG) in the TSC2 gene in a Chinese patient with tuberous sclerosis complex.
17693255 2007 IKK beta suppression of TSC1 links inflammation and tumor angiogenesis via the mTOR pathway.
17671177 2007 Identification of S664 TSC2 phosphorylation as a marker for extracellular signal-regulated kinase mediated mTOR activation in tuberous sclerosis and human cancer.
17632432 2007 [Pulmonary lymphangioleiomyomatosis with or without tuberous sclerosis].
17592551 Survivin expression in tuberous sclerosis complex cells.
17470459 2007 p27Kip1 localization depends on the tumor suppressor protein tuberin.
17458623 2007 Cytoplasmic/nuclear localization of tuberin in different cell lines.
17373211 2006 TSC2, a key player in tumor suppression and cystic kidney disease.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17304050 2007 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
17287951 2007 Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.
17273797 2007 GADD34 inhibits mammalian target of rapamycin signaling via tuberous sclerosis complex and controls cell survival under bioenergetic stress.
17234746 2007 Evidence for a molecular link between the tuberous sclerosis complex and the Crumbs complex.
17114346 2006 Tuberin nuclear localization can be regulated by phosphorylation of its carboxyl terminus.
17114181 2007 Regulatory effects of mammalian target of rapamycin-activated pathways in type I and II interferon signaling.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17018601 2006 Estrogen-induced activation of mammalian target of rapamycin is mediated via tuberin and the small GTPase Ras homologue enriched in brain.
16940165 2006 Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex.
16905638 2007 Subcellular distribution of the TSC2 gene product tuberin in human airway smooth muscle cells is driven by multiple localization sequences and is cell-cycle dependent.
16897363 2007 Giant cells: contradiction to two-hit model of tuber formation?
16835931 2006 Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations.
16707451 2006 Regulation of microtubule-dependent protein transport by the TSC2/mammalian target of rapamycin pathway.
16636147 2006 Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning.
16624901 2006 A defect in protein farnesylation suppresses a loss of Schizosaccharomyces pombe tsc2+, a homolog of the human gene predisposing to tuberous sclerosis complex.
16554133 2006 Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.
16537497 2006 Mechanism of Akt1 inhibition of breast cancer cell invasion reveals a protumorigenic role for TSC2.
16464865 2006 TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase.
16388022 2006 Modulation of cell migration and invasiveness by tumor suppressor TSC2 in lymphangioleiomyomatosis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341938 2005 Tuberin--a new molecular target in Alzheimer's disease?
16258273 2005 Growth control under stress: mTOR regulation through the REDD1-TSC pathway.
16237225 2005 A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism.
16213898 2005 Expression and prognostic value of tuberous sclerosis complex 2 gene product tuberin in human pancreatic cancer.
16211238 2005 The tuberous sclerosis genes, TSC1 and TSC2, trigger different gene expression responses.
16192644 2005 Isolation and growth of smooth muscle-like cells derived from tuberous sclerosis complex-2 human renal angiomyolipoma: epidermal growth factor is the required growth factor.
16053916 2005 Activation of delta-, kappa-, and mu-opioid receptors induces phosphorylation of tuberin in transfected HEK 293 cells and native cells.
15963462 2005 Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
15874888 2005 Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.
15851513 2005 Cross-talk between tuberin, calmodulin, and estrogen signaling pathways.
15851026 2005 Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesis.
15798777 2005 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
15647351 2005 Quantitative phosphorylation profiling of the ERK/p90 ribosomal S6 kinase-signaling cassette and its targets, the tuberous sclerosis tumor suppressors.
15624760 2004 Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15595939 2005 Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
15589136 2004 Signaling pathways: the benefits of good communication.
15579767 2004 Prostaglandin E2 mediates phosphorylation and down-regulation of the tuberous sclerosis-2 tumor suppressor (tuberin) in human endometrial adenocarcinoma cells via the Akt signaling pathway.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15477556 2004 Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber.
15355997 2004 Tuberin binds p27 and negatively regulates its interaction with the SCF component Skp2.
15342917 2004 Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase.
15340059 2004 Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.
15324660 2004 Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization.
15314020 2004 Upstream and downstream of mTOR.
15231735 2004 Regulation of the TSC pathway by LKB1: evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome.
15175323 2004 Human papillomavirus 16 E6 oncoprotein interferences with insulin signaling pathway by binding to tuberin.
15161933 2004 Comprehensive proteomic analysis of interphase and mitotic 14-3-3-binding proteins.
15150271 2004 Regulation of B-Raf kinase activity by tuberin and Rheb is mammalian target of rapamycin (mTOR)-independent.
15072102 2004 Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis.
15066998 2004 Tuberous sclerosis complex 2 gene product interacts with human SMAD proteins. A molecular link of two tumor suppressor pathways.
15059224 2004 Hamartin and tuberin immunohistochemical expression in cutaneous fibroepithelial polyps.
15024740 2004 Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
14985384 2004 Genotype and psychological phenotype in tuberous sclerosis.
14871804 2004 Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions.
14756965 2003 [Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism].
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14690447 2003 Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1.
14680818 2003 Tuberous sclerosis genes regulate cellular 14-3-3 protein levels.
14651849 2003 TSC2 mediates cellular energy response to control cell growth and survival.
14559897 2004 Pam and its ortholog highwire interact with and may negatively regulate the TSC1.TSC2 complex.
14551205 2003 Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous sclerosis complex 1 gene, by cyclin-dependent kinase 1/cyclin B.
12894220 2003 Cell size regulation by the human TSC tumor suppressor proteins depends on PI3K and FKBP38.
12869586 2003 Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling.
12842888 2003 Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner.
12820960 2003 Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2.
12773163 2003 Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours.
12773162 2003 TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis.
12773159 2003 Aspects of tuberous sclerosis complex (TSC) protein function in the brain.
12766909 2003 Regulation of cell morphology and adhesion by the tuberous sclerosis complex (TSC1/2) gene products in human kidney epithelial cells through increased E-cadherin/beta-catenin activity.
12752578 2003 Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene.
12711473 2003 Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma.
12582162 2003 The p38 and MK2 kinase cascade phosphorylates tuberin, the tuberous sclerosis 2 gene product, and enhances its interaction with 14-3-3.
12581886 2003 Nongenomic estrogen action regulates tyrosine phosphatase activity and tuberin stability.
12547695 2003 Nailing down a link between tuberin and renal cysts.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12468542 2003 14-3-3beta binds to and negatively regulates the tuberous sclerosis complex 2 (TSC2) tumor suppressor gene product, tuberin.
12438239 2002 14-3-3 interacts with the tumor suppressor tuberin at Akt phosphorylation site(s).
12364343 2002 Regulation of TSC2 by 14-3-3 binding.
12271141 2002 Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.
12176984 2002 Identification and characterization of the interaction between tuberin and 14-3-3zeta.
12172553 2002 TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling.
12150915 2002 Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway.
12127687 2002 N-ethyl-N-hydroxyethylnitrosamine (EHEN)-induced renal and hepatocarcinogenesis in the tumor suppressor Tsc2 transgenic rat.
12062115 2002 Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2.
12015165 2002 Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
11836366 2002 Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome.
11741833 2001 Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.
11703097 2001 The tuberous sclerosis 2 gene product can localize to nuclei in a phosphorylation-dependent manner.
11686512 2001 Tuberous sclerosis complex genes: from flies to human genetics.
11403047 2001 A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.
11290735 2001 Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis.
11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
10915759 2000 The TSC1 gene product, hamartin, negatively regulates cell proliferation.
10823953 2000 Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.
10807585 2000 Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney.
10735580 1999 Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
10732801 1998 Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
10607950 2000 Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
10585443 1999 Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin.
10570911 1999 Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
10533067 1999 Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
10206124 1999 Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.
10205261 1999 Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
10069705 1999 Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.
10052455 1999 gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle.
9831664 1998 Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes.
9829910 1998 Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
9809973 1998 Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.
9580671 1998 Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.
9463313 1998 Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
9361032 1997 Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.
9302281 1997 The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
9045618 1997 The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis.
8933518 1996 Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues.
8825048 1996 Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
8824881 1996 Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
8806680 1996 Co-localization of the TSC2 product tuberin with its target Rap1 in the Golgi apparatus.
8789450 1996 Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.
8634701 1995 Mutation analysis of the TSC2 gene in an African-American family.
8269512 1993 Identification and characterization of the tuberous sclerosis gene on chromosome 16.
7823706 1995 Somatic mosaicism and clinical variation in tuberous sclerosis complex.
7608212 1995 Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity.
7581393 1995 A de novo frame-shift mutation in the tuberin gene.
7558029 1995 Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues.
1870099 1991 Non-penetrance in tuberous sclerosis.
1303246 1992 Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.