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, TSC4
Human Chr (Location)		16p13.3; chr16:2097990-2138713 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human TSC2

Alleles and phenotypes

All alleles(11) : Targeted(10) Gene trapped(1)
 

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: (69 annotations)

Process	acute-phase response, cell projection organization, ...
Component	caveola, cytoplasm, ...
Function	14-3-3 protein binding, GTPase activator activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (17 records)
Data Summary: Results (90)    Tissues (55)    Images (10)
Theiler Stages: 19, 20, 23, 26, 28

Assay Type	Results
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 Model	ENSMUSG00000002496 (Evidence)
Entrez Gene	22084 (Evidence)
DFCI	TC1573528, TC1585671
NIA Mouse Gene Index	U037530
Consensus CDS Project	CCDS28486.1
International Mouse Knockout Project Status	Tsc2

Sequences

Length	Strain/Species
genomic	22084	NCBI Gene Model | MGI Sequence Detail	36693	C57BL/6J
transcript	NM_011647	RefSeq | MGI Sequence Detail	6147	C57BL/6
polypeptide	Q61037	UniProt | EBI | MGI Sequence Detail	1814	Not Applicable

All sequences(96) RefSeq(4) UniProt(11)

Polymorphisms

RFLP(3) : SNPs(75 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	IPR027107	Tuberin/Ral GTPase-activating protein subunit alpha
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:195093 Bae SH, et al., Sestrins activate Nrf2 by promoting p62-dependent autophagic degradation of Keap1 and prevent oxidative liver damage. Cell Metab. 2013 Jan 8;17(1):73-84
All references(124)

Other accession IDs

MGD-MRK-19397