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Tsc2 Gene Detail
Summary
  • Symbol
    Tsc2
  • Name
    TSC complex subunit 2
  • Synonyms
    Nafld, tuberin, tuberous sclerosis 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:102548
    NCBI Gene: 22084
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:24814790-24851604 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 12.41 cM
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    878 from dbSNP Build 142
  • Strain Annotations
    16
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102548
 protein coding gene Chr17:24814788-24851607 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TSC2, TSC complex subunit 2
  • Synonyms
    LAM, PPP1R160, TSC4
  • Links
    NCBI Gene ID: 7249
    neXtProt AC: NX_P49815
    UniProt: P49815

  • Chr Location
    16p13.3; chr16:2047967-2089491 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Tsc2 mouse models; 5 with human TSC2 associations

Human Disease Mouse Models
      
IDs
 View 9 models
      
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
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
less
  • Phenotype Summary
    97 phenotypes from 13 alleles in 18 genetic backgrounds
    8 phenotypes from multigenic genotypes
    2 images
    178 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
    127
  • GO References
    30
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    853
  • Tissues
    72
  • cDNA Data
    37
  • Literature Summary
    34
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000002496 Ensembl Gene Model | MGI Sequence Detail 36815 C57BL/6J ±  kb
    transcript ENSMUST00000227745 Ensembl | MGI Sequence Detail 5598 Not Applicable  
    polypeptide ENSMUSP00000154338 Ensembl | MGI Sequence Detail 1808 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 315
      Developmental Gene Expression 34
      Diseases 11
      Gene Ontology 30
      Phenotypes 178
    • 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:351179 Alesi N, et al., TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex. Nat Commun. 2024 Jan 9;15(1):406
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory