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Tsc2 tuberous sclerosis 2 [ Mus musculus (house mouse) ]

Gene ID: 22084, updated on 6-Jul-2014
Official Symbol
Tsc2provided by MGI
Official Full Name
tuberous sclerosis 2provided by MGI
Primary source
MGI:102548
See related
Ensembl:ENSMUSG00000002496
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Tcs2; Nafld
See Tsc2 in Epigenomics, MapViewer
Location:
17 A3.3; 17 12.41 cM
Exon count :
42
Annotation release Status Assembly Chr Location
104 current GRCm38.p2 (GCF_000001635.22) 17 NC_000083.6 (24595816..24632627, complement)

Chromosome 17 - NC_000083.6Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102636445 Neighboring gene RAB26, member RAS oncogene family Neighboring gene polycystic kidney disease 1 homolog Neighboring gene nth (endonuclease III)-like 1 (E.coli) Neighboring gene solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
14-3-3 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
GTPase activator activity ISO
Inferred from Sequence Orthology
more info
 
phosphatase binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity ISO
Inferred from Sequence Orthology
more info
 
protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acute-phase response ISO
Inferred from Sequence Orthology
more info
 
cell projection organization ISO
Inferred from Sequence Orthology
more info
PubMed 
establishment of protein localization ISO
Inferred from Sequence Orthology
more info
 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
insulin-like growth factor receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
insulin-like growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of MAP kinase activity ISO
Inferred from Sequence Orthology
more info
 
negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of TOR signaling ISO
Inferred from Sequence Orthology
more info
 
negative regulation of Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of Wnt signaling pathway ISO
Inferred from Sequence Orthology
more info
 
negative regulation of cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of cell size ISO
Inferred from Sequence Orthology
more info
PubMed 
negative regulation of epithelial cell proliferation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of insulin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of phosphatidylinositol 3-kinase signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein kinase B signaling IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural tube closure IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylinositol 3-kinase signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of Ras GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein heterooligomerization ISO
Inferred from Sequence Orthology
more info
 
protein homooligomerization ISO
Inferred from Sequence Orthology
more info
 
protein import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein kinase B signaling IGI
Inferred from Genetic Interaction
more info
PubMed 
protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of cell cycle ISO
Inferred from Sequence Orthology
more info
 
regulation of endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of insulin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
TSC1-TSC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
 
TSC1-TSC2 complex ISO
Inferred from Sequence Orthology
more info
 
caveola ISO
Inferred from Sequence Orthology
more info
 
cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with cytoplasm ISO
Inferred from Sequence Orthology
more info
 
cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
cytosol ISO
Inferred from Sequence Orthology
more info
 
dendrite ISO
Inferred from Sequence Orthology
more info
 
growth cone ISO
Inferred from Sequence Orthology
more info
 
intracellular IGI
Inferred from Genetic Interaction
more info
PubMed 
intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
membrane ISO
Inferred from Sequence Orthology
more info
 
membrane raft ISO
Inferred from Sequence Orthology
more info
 
neuron projection ISO
Inferred from Sequence Orthology
more info
 
neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
protein complex ISO
Inferred from Sequence Orthology
more info
 
Preferred Names
tuberin
Names
tuberin
tuberous sclerosis 2 protein homolog

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001039363.2NP_001034452.1  tuberin isoform 2

    See proteins identical to NP_001034452.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 3. The resulting isoform (2) lacks two internal segments, compared to isoform 3. Variants 2 and 5 encode the same isoform 2.
    Source sequence(s)
    AK147302, AK147874, AK147908, BC052449
    Consensus CDS
    CCDS28486.1
    UniProtKB/TrEMBL
    Q3UGI8
    UniProtKB/TrEMBL
    Q7TT21
    Related
    ENSMUSP00000094986, ENSMUST00000097373
    Conserved Domains (3) summary
    pfam02145
    Location:14971686
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:551904
    Blast Score: 1404
    Tuberin; Tuberin
    pfam11864
    Location:51472
    Blast Score: 1134
    DUF3384; Domain of unknown function (DUF3384)
  2. NM_001286713.1NP_001273642.1  tuberin isoform 3

    See proteins identical to NP_001273642.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents all exons of this gene and encodes a 1808aa isoform (3).
    Source sequence(s)
    AK147302, AK147487, AK147908
    UniProtKB/TrEMBL
    Q3UGI8
    UniProtKB/TrEMBL
    Q3UHB2
    Conserved Domains (3) summary
    pfam02145
    Location:15631752
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:551904
    Blast Score: 1404
    Tuberin; Tuberin
    pfam11864
    Location:51472
    Blast Score: 1134
    DUF3384; Domain of unknown function (DUF3384)
  3. NM_001286714.1NP_001273643.1  tuberin isoform 1

    See proteins identical to NP_001273643.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an alternate splice site in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 3. The resulting isoform (1) lacks an internal segment, compared to isoform 3. Variants 1 and 4 encode the same isoform 1.
    Source sequence(s)
    AK147302, AK147908, AK148062, BC052449
    UniProtKB/TrEMBL
    Q3UG88
    UniProtKB/TrEMBL
    Q3UGI8
    UniProtKB/TrEMBL
    Q7TT21
    Conserved Domains (3) summary
    pfam02145
    Location:15401729
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:551904
    Blast Score: 1405
    Tuberin; Tuberin
    pfam11864
    Location:51472
    Blast Score: 1134
    DUF3384; Domain of unknown function (DUF3384)
  4. NM_001286716.1NP_001273645.1  tuberin isoform 2

    See proteins identical to NP_001273645.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has an alternate splice site in the 5' UTR and lacks two in-frame exons in the coding region, compared to variant 3. The resulting isoform (2) lacks two internal segments, compared to isoform 3. Variants 2 and 5 encode the same isoform 2.
    Source sequence(s)
    AK147302, AK147908, BC052449
    Consensus CDS
    CCDS28486.1
    UniProtKB/TrEMBL
    Q3UGI8
    UniProtKB/TrEMBL
    Q7TT21
    Conserved Domains (3) summary
    pfam02145
    Location:14971686
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:551904
    Blast Score: 1404
    Tuberin; Tuberin
    pfam11864
    Location:51472
    Blast Score: 1134
    DUF3384; Domain of unknown function (DUF3384)
  5. NM_001286718.1NP_001273647.1  tuberin isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) has an alternate splice site and lacks two in-frame exons in the coding region, compared to variant 3. The resulting isoform (4) lacks two internal segments, compared to isoform 3.
    Source sequence(s)
    AK143799, AK147302, BC052449
    UniProtKB/TrEMBL
    Q7TT21
    Conserved Domains (3) summary
    pfam02145
    Location:14961685
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:551904
    Blast Score: 1404
    Tuberin; Tuberin
    pfam11864
    Location:51472
    Blast Score: 1134
    DUF3384; Domain of unknown function (DUF3384)
  6. NM_001286720.1NP_001273649.1  tuberin isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) has an alternate splice site and lacks a splice junction in the 3' coding region, compared to variant 3. The resulting isoform (5) is longer and has an alternate segment in the C-terminal region, compared to isoform 3.
    Source sequence(s)
    AK147302, AK147487, AK147908, AK163991
    UniProtKB/TrEMBL
    Q3TQ10
    UniProtKB/TrEMBL
    Q3UGI8
    UniProtKB/TrEMBL
    Q3UHB2
    Conserved Domains (3) summary
    pfam02145
    Location:15631696
    Blast Score: 420
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:551904
    Blast Score: 1404
    Tuberin; Tuberin
    pfam11864
    Location:51472
    Blast Score: 1136
    DUF3384; Domain of unknown function (DUF3384)
  7. NM_011647.3NP_035777.2  tuberin isoform 1

    See proteins identical to NP_035777.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks an in-frame exon in the coding region, compared to variant 3. The resulting isoform (1) lacks an internal segment, compared to isoform 3. Variants 1 and 4 encode the same isoform 1.
    Source sequence(s)
    AK143799, AK147302, AK147908
    UniProtKB/TrEMBL
    Q3UGI8
    Conserved Domains (3) summary
    pfam02145
    Location:15401729
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:551904
    Blast Score: 1405
    Tuberin; Tuberin
    pfam11864
    Location:51472
    Blast Score: 1134
    DUF3384; Domain of unknown function (DUF3384)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p2 C57BL/6J

Genomic

  1. NC_000083.6 

    Range
    24595816..24632627
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006524041.1XP_006524104.1  

    Conserved Domains (3) summary
    pfam02145
    Location:15191708
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:551904
    Blast Score: 1403
    Tuberin; Tuberin
    pfam11864
    Location:51472
    Blast Score: 1134
    DUF3384; Domain of unknown function (DUF3384)
  2. XM_006524038.1XP_006524101.1  

    Conserved Domains (3) summary
    pfam02145
    Location:15621751
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:551904
    Blast Score: 1404
    Tuberin; Tuberin
    pfam11864
    Location:51472
    Blast Score: 1134
    DUF3384; Domain of unknown function (DUF3384)
  3. XM_006524045.1XP_006524108.1  

    Conserved Domains (3) summary
    pfam02145
    Location:14951684
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:550903
    Blast Score: 1404
    Tuberin; Tuberin
    pfam11864
    Location:51471
    Blast Score: 1124
    DUF3384; Domain of unknown function (DUF3384)
  4. XM_006524044.1XP_006524107.1  

    Conserved Domains (3) summary
    pfam02145
    Location:14961685
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:550903
    Blast Score: 1404
    Tuberin; Tuberin
    pfam11864
    Location:51471
    Blast Score: 1123
    DUF3384; Domain of unknown function (DUF3384)
  5. XM_006524040.1XP_006524103.1  

    Conserved Domains (3) summary
    pfam02145
    Location:15391728
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:550903
    Blast Score: 1405
    Tuberin; Tuberin
    pfam11864
    Location:51471
    Blast Score: 1124
    DUF3384; Domain of unknown function (DUF3384)
  6. XM_006524039.1XP_006524102.1  

    Conserved Domains (3) summary
    pfam02145
    Location:15621751
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:550903
    Blast Score: 1404
    Tuberin; Tuberin
    pfam11864
    Location:51471
    Blast Score: 1124
    DUF3384; Domain of unknown function (DUF3384)
  7. XM_006524037.1XP_006524100.1  

    See proteins identical to XP_006524100.1

    UniProtKB/TrEMBL
    Q3UHB2
    Conserved Domains (3) summary
    pfam02145
    Location:15631752
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:551904
    Blast Score: 1404
    Tuberin; Tuberin
    pfam11864
    Location:51472
    Blast Score: 1134
    DUF3384; Domain of unknown function (DUF3384)
  8. XM_006524042.1XP_006524105.1  

    See proteins identical to XP_006524105.1

    Conserved Domains (3) summary
    pfam02145
    Location:15041693
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:492845
    Blast Score: 1401
    Tuberin; Tuberin
    pfam11864
    Location:1413
    Blast Score: 1105
    DUF3384; Domain of unknown function (DUF3384)
  9. XM_006524046.1XP_006524109.1  

    Conserved Domains (3) summary
    pfam02145
    Location:14381627
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:492845
    Blast Score: 1400
    Tuberin; Tuberin
    pfam11864
    Location:1413
    Blast Score: 1105
    DUF3384; Domain of unknown function (DUF3384)
  10. XM_006524043.1XP_006524106.1  

    See proteins identical to XP_006524106.1

    Conserved Domains (3) summary
    pfam02145
    Location:15041693
    Blast Score: 447
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:492845
    Blast Score: 1401
    Tuberin; Tuberin
    pfam11864
    Location:1413
    Blast Score: 1105
    DUF3384; Domain of unknown function (DUF3384)

Alternate Mm_Celera

Genomic

  1. AC_000039.1 

    Range
    25113811..25155028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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