Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    Tsc2 tuberous sclerosis 2 [ Mus musculus (house mouse) ]

    Gene ID: 22084, updated on 11-Jun-2017
    Official Symbol
    Tsc2provided by MGI
    Official Full Name
    tuberous sclerosis 2provided by MGI
    Primary source
    MGI:MGI:102548
    See related
    Ensembl:ENSMUSG00000002496
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tcs2; Nafld
    Orthologs
    Location:
    17 A3.3; 17 12.41 cM
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 17 NC_000083.6 (24595816..24632627, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 17 NC_000083.5 (24732882..24769574, complement)

    Chromosome 17 - NC_000083.6Genomic Context describing neighboring genes Neighboring gene RAB26, member RAS oncogene family Neighboring gene predicted gene, 33508 Neighboring gene polycystic kidney disease 1 homolog Neighboring gene nth (endonuclease III)-like 1 (E.coli) Neighboring gene solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    14-3-3 protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein N-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    aging ISO
    Inferred from Sequence Orthology
    more info
     
    anoikis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    anoikis ISO
    Inferred from Sequence Orthology
    more info
     
    cell projection organization ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cellular response to insulin stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of cell polarity ISO
    Inferred from Sequence Orthology
    more info
     
    establishment of protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    insulin-like growth factor receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    insulin-like growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of MAP kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of TOR signaling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of TOR signaling ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of TORC1 signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of axonogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell size ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    negative regulation of epithelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of epithelial to mesenchymal transition ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of fibroblast proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of insulin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of macroautophagy ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of phosphatidylinositol 3-kinase signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of pinocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of protein kinase B signaling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of vascular endothelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphatidylinositol 3-kinase signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of dendritic spine development ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of fibroblast migration ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of macroautophagy ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein heterooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    protein import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein kinase B signaling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    protein transport into plasma membrane raft IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of insulin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    social behavior ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    TSC1-TSC2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    TSC1-TSC2 complex ISO
    Inferred from Sequence Orthology
    more info
     
    caveola ISO
    Inferred from Sequence Orthology
    more info
     
    cell projection ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    membrane raft ISO
    Inferred from Sequence Orthology
    more info
     
    neuron projection ISO
    Inferred from Sequence Orthology
    more info
     
    neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    tuberin
    Names
    tuberous sclerosis 2 protein homolog

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001039363.2NP_001034452.1  tuberin isoform 2

      See identical proteins and their annotated locations for NP_001034452.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 3. The resulting isoform (2) lacks two internal segments, compared to isoform 3. Variants 2 and 5 encode the same isoform 2.
      Source sequence(s)
      AK147302, AK147874, AK147908, BC052449
      Consensus CDS
      CCDS28486.1
      UniProtKB/TrEMBL
      Q3UGI8, Q7TT21
      Related
      ENSMUSP00000094986.1, ENSMUST00000097373.1
      Conserved Domains (3) summary
      pfam02145
      Location:14981684
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555903
      Tuberin; Tuberin
      pfam11864
      Location:54466
      DUF3384; Domain of unknown function (DUF3384)
    2. NM_001286713.1NP_001273642.1  tuberin isoform 3

      See identical proteins and their annotated locations for NP_001273642.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents all exons of this gene and encodes a 1808aa isoform (3).
      Source sequence(s)
      AK147302, AK147487, AK147908
      UniProtKB/TrEMBL
      Q3UGI8, Q3UHB2
      Conserved Domains (3) summary
      pfam02145
      Location:15641750
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555903
      Tuberin; Tuberin
      pfam11864
      Location:54466
      DUF3384; Domain of unknown function (DUF3384)
    3. NM_001286714.1NP_001273643.1  tuberin isoform 1

      See identical proteins and their annotated locations for NP_001273643.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate splice site in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 3. The resulting isoform (1) lacks an internal segment, compared to isoform 3. Variants 1 and 4 encode the same isoform 1.
      Source sequence(s)
      AK147302, AK147908, AK148062, BC052449
      UniProtKB/TrEMBL
      Q3UG88, Q3UGI8, Q7TT21
      Conserved Domains (3) summary
      pfam02145
      Location:15411727
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555903
      Tuberin; Tuberin
      pfam11864
      Location:54466
      DUF3384; Domain of unknown function (DUF3384)
    4. NM_001286716.1NP_001273645.1  tuberin isoform 2

      See identical proteins and their annotated locations for NP_001273645.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has an alternate splice site in the 5' UTR and lacks two in-frame exons in the coding region, compared to variant 3. The resulting isoform (2) lacks two internal segments, compared to isoform 3. Variants 2 and 5 encode the same isoform 2.
      Source sequence(s)
      AK147302, AK147908, BC052449
      Consensus CDS
      CCDS28486.1
      UniProtKB/TrEMBL
      Q3UGI8, Q7TT21
      Conserved Domains (3) summary
      pfam02145
      Location:14981684
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555903
      Tuberin; Tuberin
      pfam11864
      Location:54466
      DUF3384; Domain of unknown function (DUF3384)
    5. NM_001286718.1NP_001273647.1  tuberin isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has an alternate splice site and lacks two in-frame exons in the coding region, compared to variant 3. The resulting isoform (4) lacks two internal segments, compared to isoform 3.
      Source sequence(s)
      AK143799, AK147302, BC052449
      UniProtKB/TrEMBL
      Q7TT21
      Conserved Domains (3) summary
      pfam02145
      Location:14971683
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555903
      Tuberin; Tuberin
      pfam11864
      Location:54466
      DUF3384; Domain of unknown function (DUF3384)
    6. NM_001286720.1NP_001273649.1  tuberin isoform 5

      See identical proteins and their annotated locations for NP_001273649.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) has an alternate splice site and lacks a splice junction in the 3' coding region, compared to variant 3. The resulting isoform (5) is longer and has an alternate segment in the C-terminal region, compared to isoform 3.
      Source sequence(s)
      AK147302, AK147487, AK147908, AK163991
      UniProtKB/TrEMBL
      Q3TQ10, Q3UGI8, Q3UHB2
      Conserved Domains (3) summary
      pfam02145
      Location:15641756
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555903
      Tuberin; Tuberin
      pfam11864
      Location:54466
      DUF3384; Domain of unknown function (DUF3384)
    7. NM_011647.3NP_035777.2  tuberin isoform 1

      See identical proteins and their annotated locations for NP_035777.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an in-frame exon in the coding region, compared to variant 3. The resulting isoform (1) lacks an internal segment, compared to isoform 3. Variants 1 and 4 encode the same isoform 1.
      Source sequence(s)
      AK143799, AK147302, AK147908
      UniProtKB/TrEMBL
      Q3UGI8
      Conserved Domains (3) summary
      pfam02145
      Location:15411727
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555903
      Tuberin; Tuberin
      pfam11864
      Location:54466
      DUF3384; Domain of unknown function (DUF3384)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000083.6 Reference GRCm38.p4 C57BL/6J

      Range
      24595816..24632627 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317392.1XP_017172881.1  tuberin isoform X10

    2. XM_017317389.1XP_017172878.1  tuberin isoform X7

    3. XM_017317388.1XP_017172877.1  tuberin isoform X6

    4. XM_017317387.1XP_017172876.1  tuberin isoform X4

    5. XM_017317385.1XP_017172874.1  tuberin isoform X2

    6. XM_006524044.2XP_006524107.1  tuberin isoform X9

      Conserved Domains (3) summary
      pfam02145
      Location:14971683
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:554902
      Tuberin; Tuberin
      pfam11864
      Location:54465
      DUF3384; Domain of unknown function (DUF3384)
    7. XM_006524040.2XP_006524103.1  tuberin isoform X5

      Conserved Domains (3) summary
      pfam02145
      Location:15401726
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:554902
      Tuberin; Tuberin
      pfam11864
      Location:54465
      DUF3384; Domain of unknown function (DUF3384)
    8. XM_017317386.1XP_017172875.1  tuberin isoform X3

    9. XM_017317384.1XP_017172873.1  tuberin isoform X1

      UniProtKB/TrEMBL
      Q3UHB2
      Conserved Domains (3) summary
      pfam02145
      Location:15641750
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555903
      Tuberin; Tuberin
      pfam11864
      Location:54466
      DUF3384; Domain of unknown function (DUF3384)
    10. XM_017317390.1XP_017172879.1  tuberin isoform X8

    11. XM_017317393.1XP_017172882.1  tuberin isoform X11

    12. XM_017317391.1XP_017172880.1  tuberin isoform X8

    RNA

    1. XR_001782062.1 RNA Sequence

    2. XR_001782063.1 RNA Sequence

    Support Center