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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 Ensembl 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: TSC2
Gene Tree: Tsc2

Human
homologs
TSC2, tuberous sclerosis 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 7249
neXtProt AC: NX_P49815

Human Synonyms: LAM, PPP1R160, TSC4

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

Disease Associations: (2) Diseases Associated with Human TSC2

Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(1) Targeted(12) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Tsc2 (4)    Mutations Annotated to Human Diseases (5)    Phenotype Images(2)
Interactions
Tsc2 interacts with 120 markers (Mir15a, Mir16-1, Mir17, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (74 annotations)
Process cell projection organization, cellular response to insulin stimulus, ...
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: (21 records)
Data Summary: Results (90)    Tissues (64)    Images (10)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 29
Northern blot 45
Western blot 9
RT-PCR 7
cDNA source data(36)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase tsc2 ; ZFIN tsc2    NEW 
Molecular
reagents
All nucleic(51) Genomic(4) cDNA(37) Primer pair(8) Other(2)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000002496 (Evidence)
Entrez Gene 22084 (Evidence)
DFCI TC1573528, TC1585671
NIA Mouse Gene Index U037530
Consensus CDS Project CCDS28486.1
International Mouse Phenotyping Consortium Status Tsc2
Sequences
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 sequences
All sequences(141) RefSeq(39) 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 protein domain
InterPro IPR003913 Tuberin
InterPro IPR024584 Tuberin, N-terminal
InterPro IPR018515 Tuberin-type domain
Protein Ontology PR:000016709 tuberin
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:222879 Hobbs RM, et al., Distinct germline progenitor subsets defined through Tsc2-mTORC1 signaling. EMBO Rep. 2015 Apr;16(4):467-80
All references(156)
Disease annotation references (13)
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
08/25/2015
MGI 6.0
The Jackson Laboratory