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Tsc2
Gene Detail
 Symbol
Name
ID
Tsc2
tuberous sclerosis 2
MGI:102548
Synonyms Nafld, tuberin
Feature Type protein coding gene
Genetic Map
Chromosome 17
12.41 cM
Detailed Genetic Map ± 1 cM


Mapping data(13)
Sequence Map
Chr17:24595937-24632629 bp, - strand
From NCBI annotation of GRCm38

  36693 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:462  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Tsc2

Human
homologs
Human Homolog TSC2, tuberous sclerosis 2
NCBI Gene ID 7249
neXtProt AC  NX_P49815
Human Synonyms  LAM, PPP1R160, TSC4
Human Chr (Location)  16p13.3; chr16:2047802-2088712 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human TSC2
Alleles
and
phenotypes
All alleles(13) : Gene trapped(1) Targeted(12)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Tsc2 (1)    Alleles Annotated to Human Diseases(5)    Phenotype Images(2)
Gene Ontology
(GO)
classifications
All GO classifications: (71 annotations)
Process acute-phase response, cell projection organization, ...
Component caveola, cell, ...
Function 14-3-3 protein binding, GTPase activator activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (19 records)
Data Summary: Results (90)    Tissues (55)    Images (10)
Theiler Stages: 19, 20, 23, 26, 28
Assay TypeResults
RNA in situ 29
Northern blot 45
Western blot 9
RT-PCR 7
cDNA source data(36)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(51) Genomic(4) cDNA(37) Primer pair(8) Other(2)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000002496 (Evidence)
Entrez Gene22084 (Evidence)
DFCITC1573528, TC1585671
NIA Mouse Gene IndexU037530
Consensus CDS ProjectCCDS28486.1
International Mouse Knockout Project StatusTsc2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 22084 NCBI Gene Model | MGI Sequence Detail 36693 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 sequences
All sequences(126) RefSeq(34) UniProt(11)
Polymorphisms RFLP(3) : SNPs within 2kb(312 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
InterPro IPR000331 Rap GTPase activating proteins domain
InterPro IPR003913 Tuberin
InterPro IPR024584 Tuberin, N-terminal
InterPro IPR018515 Tuberin-type domain
Protein Ontology PR:000016709 tuberin
Graphical View of Protein Domain Structure
References (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:206514 Tanwar PS, et al., Loss of LKB1 and PTEN tumor suppressor genes in the ovarian surface epithelium induces papillary serous ovarian cancer. Carcinogenesis. 2014 Mar;35(3):546-53
All references(140)
Other
accession IDs
MGD-MRK-19397

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory