About   Help   FAQ
Tsc2 Gene Detail
Summary
  • Symbol
    Tsc2
  • Name
    tuberous sclerosis 2
  • Synonyms
    Nafld, tuberin
  • Feature Type
    protein coding gene
  • IDs
    MGI:102548
    NCBI Gene: 22084
  • Gene Overview
    MyGene.info: TSC2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr17:24595816-24632627 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36812 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 12.41 cM
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    TSC2, TSC complex subunit 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TSC2, TSC complex subunit 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LAM, PPP1R160, TSC4
  • Links
    NCBI Gene ID: 7249
    neXtProt AC: NX_P49815
    UniProt: P49815

  • Chr Location
    16p13.3; chr16:2047804-2088720 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 462
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: TSC2
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Tsc2 mouse models; 2 with human TSC2 associations

Human Disease Mouse Models
      
IDs
View 9 models
      
IDs
View 2 models
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    96 phenotypes from 13 alleles in 18 genetic backgrounds
    7 phenotypes from multigenic genotypes
    2 images
    94 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22084 NCBI Gene Model | MGI Sequence Detail 36812 C57BL/6J ±  kb
    transcript NM_001286720 RefSeq | MGI Sequence Detail 6353 C57BL/6  
    polypeptide Q61037 UniProt | EBI | MGI Sequence Detail 1814 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      308 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 52
      Genomic 4
      cDNA 37
      Primer pair 9
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-19397
    References
    more
    • Summaries
      All 210
      Developmental Gene Expression 24
      Diseases 11
      Gene Ontology 22
      Phenotypes 94
    • Earliest
      J:22819 Olsson PG, et al., The mouse homologue of the tuberin gene (TSC2) maps to a conserved synteny group between mouse chromosome 17 and human 16p13.3. Genomics. 1995 Jan 1;25(1):339-40
    • Latest
      J:259390 Yang F, et al., Uncoupling of ER/Mitochondrial Oxidative Stress in mTORC1 Hyperactivation-Associated Skin Hypopigmentation. J Invest Dermatol. 2018 Mar;138(3):669-678

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory