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
Location & Maps
more
  • Sequence Map
    Chr17:24595937-24632629 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36693 bp   ±  kb flank

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

  • Chr Location
    16p13.3; chr16:2047936-2088712 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Lymphangioleiomyomatosis; LAM   OMIM: 606690 View 1 model
Tuberous Sclerosis 2; TSC2   OMIM: 613254 View 8 models
       Autism   OMIM: 209850 View 1 model
Leiomyoma, Uterine; UL   OMIM: 150699 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    13 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    87 phenotypes from 12 alleles in 17 genetic backgrounds
    3 phenotypes from multigenic genotypes
    2 images
    75 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
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
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000002496 Ensembl Gene Model | MGI Sequence Detail 36693 C57BL/6J ±  kb
transcript ENSMUST00000097373 Ensembl | MGI Sequence Detail 6018 Not Applicable  
polypeptide ENSMUSP00000094986 Ensembl | MGI Sequence Detail 1742 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 51
    Genomic 4
    cDNA 37
    Primer pair 8
    Other 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-19397
References
more
  • Summaries
    All 166
    Developmental Gene Expression 22
    Diseases 13
    Gene Ontology 20
    Phenotypes 75
  • 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:233083 Atochina-Vasserman EN, et al., Pharmacological targeting of VEGFR signaling with axitinib inhibits Tsc2-null lesion growth in the mouse model of lymphangioleiomyomatosis. Am J Physiol Lung Cell Mol Physiol. 2015 Dec 15;309(12):L1447-54

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
09/13/2016
MGI 6.05
The Jackson Laboratory