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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
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:24595816-24632627 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 12.41 cM
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    308 from dbSNP Build 142
  • Strain Annotations
    16
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102548
protein coding gene Chr17:24595816-24632630 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023308
protein coding gene Chr17:23592820-23628109 (-)
A/J MGP_AJ_G0023268
protein coding gene Chr17:22954691-22990447 (-)
AKR/J MGP_AKRJ_G0023235
protein coding gene Chr17:23034280-23071922 (-)
BALB/cJ MGP_BALBcJ_G0023273
protein coding gene Chr17:23140756-23177288 (-)
C3H/HeJ MGP_C3HHeJ_G0023033
protein coding gene Chr17:23392911-23430513 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023717
protein coding gene Chr17:24644416-24681154 (-)
CAROLI/EiJ no annotation
CAST/EiJ MGP_CASTEiJ_G0022535
protein coding gene Chr17:23237069-23280069 (-)
CBA/J MGP_CBAJ_G0023009
protein coding gene Chr17:25486602-25525424 (-)
DBA/2J MGP_DBA2J_G0023138
protein coding gene Chr17:22545638-22580624 (-)
FVB/NJ MGP_FVBNJ_G0023108
protein coding gene Chr17:22265285-22304374 (-)
LP/J MGP_LPJ_G0023215
protein coding gene Chr17:23905363-23943551 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023127
protein coding gene Chr17:25194966-25231992 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023754
protein coding gene Chr17:23310232-23347148 (-)
PWK/PhJ MGP_PWKPhJ_G0022284
protein coding gene Chr17:21291787-21328113 (-)
SPRET/EiJ no annotation
WSB/EiJ MGP_WSBEiJ_G0022598
protein coding gene Chr17:23380681-23417275 (-)



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 2 models
IDs
View 9 models
IDs
View 1 model
      
IDs
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
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  • Phenotype Summary
    96 phenotypes from 13 alleles in 18 genetic backgrounds
    7 phenotypes from multigenic genotypes
    2 images
    99 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 54
      Genomic 4
      cDNA 38
      Primer pair 9
      Other 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-19397
    References
    more
    • Summaries
      All 220
      Developmental Gene Expression 25
      Diseases 11
      Gene Ontology 24
      Phenotypes 99
    • 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:265828 Himes BE, et al., Rapamycin-independent IGF2 expression in Tsc2-null mouse embryo fibroblasts and human lymphangioleiomyomatosis cells. PLoS One. 2018;13(5):e0197105

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory