Version: 8.0.0
Date: Tue Jan 28 2025
Tsc2
Mus musculusMGI:102548
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Tsc2

Species
Mus musculus
Symbol
Tsc2
Name
TSC complex subunit 2
Synonyms
  • Nafld
  • Rc
Biotype
protein coding gene
Automated Description
Enables 14-3-3 protein binding activity and GTPase activator activity. Involved in several processes, including anoikis; chemical synaptic transmission; and negative regulation of TORC1 signaling. Acts upstream of or within several processes, including intracellular protein transport; negative regulation of lymphocyte proliferation; and regulation of signal transduction. Located in cytoplasm. Part of TSC1-TSC2 complex. Is active in lysosomal membrane and synapse. Is expressed in several structures, including aorta; central nervous system; genitourinary system; hemolymphoid system gland; and retina. Used to study autism spectrum disorder; tuberous sclerosis; and uterine fibroid. Human ortholog(s) of this gene implicated in hepatic angiomyolipoma; lymphangioleiomyomatosis; medulloblastoma; tuberous sclerosis; and tuberous sclerosis 2. Orthologous to human TSC2 (TSC complex subunit 2).
MGI Description
PHENOTYPE: Homozygous null mutants exhibit liver hypoplasia, open neural tube, thickened myocardium and die by embryonic day 9.5-12.5. Heterozygotes develop renal cystadenomas, liver hemangiomas (sometimes resulting in fatal bleeding) and lung adenomas. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10063
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
References
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
per page

    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    No records match query. Try removing filters.
    Showing 0 - 0 of 0 rows
    per page
      Download all Alleles/Variants for all genes of the species

      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
      No records match query. Try removing filters.
      Showing 0 - 0 of 0 rows
      per page

        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
        No records match query. Try removing filters.
        Showing 0 - 0 of 0 rows
        per page

          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
          Viewer Help
          Data currently unavailable; sequence viewer under construction

          Sequence Details

          Loading...

          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Tsc2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
          No records match query. Try removing filters.
          Showing 0 - 0 of 0 rows
          per page

            Genetic Interactions

            Tsc2 role
            Tsc2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
            No records match query. Try removing filters.
            Showing 0 - 0 of 0 rows
            per page