Gene content    
TSC2 ( by HUGO)
Tuberous Sclerosis
Tumor suppressor gene & --
Tuberous Sclerosis 2
TSC4
Tuberous Sclerosis 2 Protein
LAM
tuberin
NCBI: 16p13.3    Ensembl: 16p13.3
TSC2_HUMANSize: 1807 amino acidsMass: 200608 Da

  • Subunit: Interacts with TSC1 and HERC1; the interaction with TSC1 stabilizes TSC2 and prevents the interaction with HERC1. May also interact with the adapter molecule RABEP1. The final complex contains TSC2 and RABEP1 linked to RAB5 (Probable). Interacts with HSPA1 and HSPA8. Interacts with DAPK1 and FBXW5 Sequence caution: Sequence=BAE06082.1; Type=Erroneous initiation;
  • Tissue specificity: Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including TSC2: mTOR Signaling in human mouse rat Primary Cilia in human mous
  • Function:
    UniProtKB/Swiss-Prot Summary: TSC2_HUMAN, P49815 Function: In complex with TSC1, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. Stimulates weakly the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 in vitro. Mutations in TSC2 lead to constitutive activation of RAP1A in tumors Gene Ontology (GO): Selected molecular function terms (see all 7): About this table GO ID Qualified GO term Evidence PubMed IDs GO:0005096 GTPase activator activity IDA 9045618 GO:0005488 binding -- -- GO:0005515 protein binding IPI 10585443 GO:0019902 phosphatase binding IDA 19389623 GO:0042803 protein homodimerization activity IPI 10585443 [IMAGE] Find genes that share ontologies with TSC2 About GenesLikeMe Phenotypes: 1 GenomeRNAi human phenotype for TSC2: Upregulation of Wnt/beta-caten Selected MGI mutant phenotypes (inferred from 12 alleles[IMAGE]) (MGI details for Tsc2) (see all 16): behavior/neurological cardiovascular system cellular embryogenesis endocrine/exocrine gland growth/size/body hematopoietic system homeostasis/metabolism integument liver/biliary system mortality/aging nervous system normal renal/urinary system reproductive system [IMAGE] Find genes that share phenotypes with TSC2 About GenesLikeMe Animal Models: MGI mouse knock-outs for TSC2: Tsc2tm1Djk Tsc2tm1.2Mjg Tsc2tm1.1Kido Tsc2tm1Jusa [IMAGE] inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TSC2 [IMAGE] inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TSC2 [IMAGE] genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TSC2 [IMAGE] genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TSC2 miRNA Products: miRTarBase miRNAs that target TSC2: hsa-mir-744-5p (MIRT037646), hsa-mir-17-5p (MIRT050917), hsa-mir-296-3p (MIRT038502) [IMAGE] Block miRNA regulation of human, mouse, rat TSC2 using miScript Target Protectors [IMAGE] Search for qRT-PCR Assays for microRNAs that regulate TSC2 [IMAGE] Browse SwitchGear 3'UTR luciferase reporter plasmids Inhib. RNA Products: [IMAGE] OriGene RNAi products in human, mouse, rat for TSC2 [IMAGE] Predesigned siRNA for gene silencing in human, mouse, rat TSC2 Gene Editing Products: [IMAGE] DNA2.0 Custom Protein Engineering Service for TSC2 Clone Products: [IMAGE] OriGene clones in human, mouse for TSC2 (see all 14) OriGene ORF clones in mouse, rat for TSC2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling [IMAGE] GenScript: all cDNA clones in your preferred vector (see all 3): TSC2 (NM_004089) [IMAGE] Browse Sino Biological Human cDNA Clones [IMAGE] DNA2.0 Custom Codon Optimized Gene Synthesis Service for TSC2 [IMAGE] Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSC2 [IMAGE] Addgene plasmids for TSC2 [IMAGE] Cell Line Products: [IMAGE] GenScript Custom overexpressing Cell Line Services for TSC2 [IMAGE] Browse ESI BIO Cell Lines and PureStem Progenitors for TSC2 [IMAGE] In Situ Assay Products: [IMAGE] Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSC2 Flow Cytometry Products: [IMAGE] eBioscience FlowRNA Probe Sets (VA1-12340) for TSC2 [IMAGE]
  • Similarity:
    Contains 1 Rap-GAP domain [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR000331Rap_GAP_domRap/ran-GAPDomain
    IPR003913TuberinTuberinFamily
    IPR011989ARM-likeArmadillo-like helicalDomain
    BlocksIPB000331Rap/ran-GAPRap/ran-GAP
    IPB003913Tuberin signatureTuberin signature

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process cell cycle IEA GOA
    endocytosis TAS GOA PubMed
    GTPase activator activity TAS GOA PubMed
    negative regulation of progression through cell cycle IEA GOA
    unfolded protein binding TAS GOA PubMed
    Molecular Function cytoplasm TAS GOA PubMed
    cytosol TAS GOA PubMed
    membrane fraction TAS GOA PubMed
    plasma membrane TAS GOA PubMed
    protein folding TAS GOA PubMed

    Disorder & Mutation    
    Source Disease
    Genatlastuberous sclerosis 2,multisystem disorder characterized by the widespread development of hamartomatous growths noteworthy in eyes,heart,skin and brain,with seizures,behavioral disorder and a renal angiomyolipoma and lymphangiomatosis,with a high risk of mental retardation
    SWISS-PROTTuberous sclerosis 2 (TSC2) [MIM:613254]: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. Note=The disease is caused by mutations affecting the gene represented in this entry
    SWISS-PROTLymphangioleiomyomatosis (LAM) [MIM:606690]: Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex. Note=The disease is caused by mutations affecting the gene represented in this entry

    TSC2 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene