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Validated All-in-One™ qPCR Primer for TSC2(NM_000548.4) Search again
Product ID:
HQP018265
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
LAM, PPP1R160, TSC4
Gene Description:
TSC complex subunit 2
Target Gene Accession:
NM_000548.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
Mutations in this gene lead to tuberous sclerosis complex.
Gene References into function
- missense mutation in the GTPase activating protein homology region in families with tuberous sclerosis complex
- negative regulators of cell division; control of transition from G0/G1 to S phase
- Detected two sequence changes involving the TSC2 stop codon.
- calmodulin signaling in the propagation of this TSC2 activity
- 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.
- Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
- 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.
- effect on EHEN-induced renal and hepatocarcinogenesis in the suppressor gene transgenic rats
- regulation by phosphatidylinositol 3-kinase/Akt pathway and phosphorylation of tuberin
- TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling.
- tuberin binds with 14-3-3 zeta to regulate phosphorylation of ribosomal protein S6
- 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)
- associates with 14-3-3 in vivo
- TSC2 expression is regulated by 14-3-3 beta in human cells
- A link exists between this protein and kidney diseases
- Estrogen action induces tyrosine phosphatase activity that regulates stability of tuberin, which may play a crucial role in cellular specific functions such as endocytosis.
- MK2 phosphorylates TSC2, which creates a 14-3-3 binding site and thus regulates the cellular function of the TSC2 tumor suppressor protein
- Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma.
- 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
- mutated in suberous sclerosis (REVIEW).
- Mutated in tuberous sclerosis.
- mutated in sporadic tumors (REVIEW)
- TSC2 is a GAP for rheb and insulin-mediated rheb activation is PI3K dependent.
- TSC2 binds to rheb and has a role in S6 kinase activation
- TSC2 is a Rheb GAP
- Human TSC2 triggers mammalian cell size reduction and a dominant-negative TSC2 mutant induces increased size.
- 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
- the TSC1.TSC2 complex is regulated by pam and its ortholog highwire
- Western blot analyses confirmed the deregulation of 14-3-3 proteins upon ectopic overexpression of TSC1 and TSC2.
- 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 .
- A novel mechanism of post-translational inactivation of the TSC2 protein, tuberin, by physiologically inappropriate phosphorylation is demonstated.
- 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
- 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.
- Tuberin (TSC2) interact with smad2/smad3 during TGF-beta1 growth regulation.
- tsc2 gene expression is reduced in the majority of subependymal giant cell astrocytomas
- inhibition of B-Raf kinase via Rheb is an mTOR-independent function of tuberin
- Binding with HPV16 E6 causes the proteasome-mediated degradation of Tuberin
- Peutz-Jeghers syndrome and other benign tumor syndromes could be caused by dysregulation of the TSC2 pathway
- To investigate the function of TSC2 and Rheb in mTOR signaling, we analyzed the TSC2-stimulated Rheb GTPase activity.
- Tuberin has a role in binding p27 and negatively regulating its interaction with Skp2
- Cortical tuber giant cells in a case of epileptogenic tuberous sclerosis showed predominantly nuclear hamartin, cytosolic tuberin, and hyperphosphorylation of S6.
- data suggest that PGE2 signaling may promote endometrial tumorigenesis by inactivation of tuberin after its phosphorylation via the Akt signaling pathway
- A total of 12 mutations were detected in 24 Indian TSC families in TSC genes.
- 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.
- 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
- Erk may modulate mTOR signaling and contribute to disease progression through phosphorylation and inactivation of TSC2.
- 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
- investigation of the ability of different opioid receptors to regulate the phosphorylation and degradation of tuberin
- Growth of smooth muscle cells derived from TSC2-renal angiomyolipoma demonstrates that epidermal growth factor is required.
- 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
- Reduced expression of tuberin might be involved in the progression of pancreatic cancer.
- patient should be considered as having Subependymal giant cell astrocytoma that developed from two somatic hit mutations in TSC2
- 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.
- Data show that tuberin protein levels are decreased in the frontal cortex of patients with Alzheimer's disease.
- TSC2 may play a critical role in modulating cell migration and invasiveness, which contributes to the pathobiology of LAM.
- 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.
- 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.
- 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.
- mutation in the TSC2 gene has a role in acrochordons and pancreatic islet-cell tumors in tuberous sclerosis [case report]
- 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
- 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.
- 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
- The TSC/Rheb/mTOR pathway plays a critical role in the regulation of E(2)-induced proliferation.
- 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
- 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.
- 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.
- 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).
- 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.
- implications for the development of cystic kidney disease [REVIEW]
- study presents the cytoplasmic/nuclear distribution of tuberin in cell lines
- p27 localization during the mammalian cell cycle is under the control of the tumor suppressor tuberin
- 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.
- Pulmonary lymphangioleiomyomatosis can appear sporadically or be associated with tuberous sclerosis with abnormalities of the TSC2 suppressor gene.
- 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
- novel tandem-duplication mutation od TSC2 in Chinese tuberous sclerosis patient
- This is the first description of a functional interaction between the tumor suppressor tuberin and the oncogene Ras in regulating apoptosis.
- CD44v6-positive sorted lymphangioleiomyomatosis cells showed loss of heterozygosity at the TSC2 locus; binding of CD44v6 antibody resulted in loss of cell viability.
- 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.
- Patients with a TSC1 mutation are more likely to have a less severe neurologic and cognitive phenotype than those with a TSC2 mutation.
- 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
- 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.
- IFNbeta augments TSC2-dependent inhibition of TSC2-null ELT3 and human lymphangioleiomyomatosis-derived cell proliferation.
- 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
- 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.
- 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).
- 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.
- Results indicate that FBW5-DDB1-CUL4-ROC1 is an E3 ubiquitin ligase regulating TSC2 protein stability and TSC complex turnover.
- the TSC1-TSC2 complex inhibits mTORC1 and activates mTORC2, which through different mechanisms promotes Akt activation
- Inactivation of TSC2 via loss of expression or phosphorylation occurred frequently in endometrial carcinoma to activate mTOR signaling
- 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.
- in addition to the kinase LKB1, the Tsc1-Tsc2 complex, acting through TORC1, also modulates SAD to regulate axon formation
- 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
- 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.
- Dysregulation of the TSC-mTOR pathway may cause not only tumor development but also metabolic disorders such as diabetes and its comp
- Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation.
- 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.
- TSC2 which codes for tuberin plays a central role in regulating cell survival and proliferation signaling pathways