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

Gene ID: 22084, updated on 3-Jun-2018
Official Symbol
Tsc2provided by MGI
Official Full Name
tuberous sclerosis 2provided by MGI
Primary source
MGI: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; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Tcs2; Nafld
Expression
Ubiquitous expression in lung adult (RPKM 31.9), ovary adult (RPKM 27.3) and 28 other tissues See more
Orthologs
See Tsc2 in Genome Data Viewer
Location:
17 A3.3; 17 12.41 cM
Exon count:
42
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 17 NC_000083.6 (24595816..24632627, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 17 NC_000083.5 (24732882..24769574, complement)

Chromosome 17 - NC_000083.6Genomic Context describing neighboring genes Neighboring gene RAB26, member RAS oncogene family Neighboring gene predicted gene, 33508 Neighboring gene polycystin 1, transient receptor poteintial channel interacting Neighboring gene nth (endonuclease III)-like 1 (E.coli) Neighboring gene solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
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
PubMed 
GTPase activator activity ISO
Inferred from Sequence Orthology
more info
 
Hsp90 protein binding ISO
Inferred from Sequence Orthology
more info
 
phosphatase binding ISO
Inferred from Sequence Orthology
more info
 
protein N-terminus 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
 
small GTPase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
aging ISO
Inferred from Sequence Orthology
more info
 
anoikis IMP
Inferred from Mutant Phenotype
more info
PubMed 
anoikis ISO
Inferred from Sequence Orthology
more info
 
cell projection organization ISO
Inferred from Sequence Orthology
more info
PubMed 
cellular response to insulin stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of cell polarity ISO
Inferred from Sequence Orthology
more info
 
establishment of protein localization ISO
Inferred from Sequence Orthology
more info
 
glucose import IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of TOR signaling IGI
Inferred from Genetic Interaction
more info
PubMed 
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 TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of Wnt signaling pathway ISO
Inferred from Sequence Orthology
more info
 
negative regulation of axonogenesis 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 epithelial to mesenchymal transition ISO
Inferred from Sequence Orthology
more info
 
negative regulation of fibroblast proliferation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of insulin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of macroautophagy ISO
Inferred from Sequence Orthology
more info
 
negative regulation of phosphatidylinositol 3-kinase signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of pinocytosis ISO
Inferred from Sequence Orthology
more info
 
negative regulation of protein kinase B signaling IBA
Inferred from Biological aspect of Ancestor
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 
negative regulation of protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of vascular endothelial cell proliferation ISO
Inferred from Sequence Orthology
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
positive regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell adhesion ISO
Inferred from Sequence Orthology
more info
 
positive regulation of dendritic spine development ISO
Inferred from Sequence Orthology
more info
 
positive regulation of fibroblast migration ISO
Inferred from Sequence Orthology
more info
 
positive regulation of macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of macroautophagy ISO
Inferred from Sequence Orthology
more info
 
positive regulation of neuron projection development ISO
Inferred from Sequence Orthology
more info
 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
protein localization to cell surface ISO
Inferred from Sequence Orthology
more info
 
protein transport into plasma membrane raft IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
social behavior ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
TSC1-TSC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TSC1-TSC2 complex ISO
Inferred from Sequence Orthology
more info
 
caveola ISO
Inferred from Sequence Orthology
more info
 
cell projection ISO
Inferred from Sequence Orthology
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
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 membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
lysosome 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
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
Preferred Names
tuberin
Names
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 identical proteins and their annotated locations for 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, Q7TT21
    Related
    ENSMUSP00000094986.1, ENSMUST00000097373.1
    Conserved Domains (3) summary
    pfam02145
    Location:14981684
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin; Tuberin
    pfam11864
    Location:54466
    DUF3384; Domain of unknown function (DUF3384)
  2. NM_001286713.1NP_001273642.1  tuberin isoform 3

    See identical proteins and their annotated locations for 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, Q3UHB2
    Related
    ENSMUSP00000154338.1, ENSMUST00000227745.1
    Conserved Domains (3) summary
    pfam02145
    Location:15641750
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin; Tuberin
    pfam11864
    Location:54466
    DUF3384; Domain of unknown function (DUF3384)
  3. NM_001286714.1NP_001273643.1  tuberin isoform 1

    See identical proteins and their annotated locations for 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, Q3UGI8, Q7TT21
    Conserved Domains (3) summary
    pfam02145
    Location:15411727
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin; Tuberin
    pfam11864
    Location:54466
    DUF3384; Domain of unknown function (DUF3384)
  4. NM_001286716.1NP_001273645.1  tuberin isoform 2

    See identical proteins and their annotated locations for 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, Q7TT21
    Related
    ENSMUSP00000153792.1, ENSMUST00000226398.1
    Conserved Domains (3) summary
    pfam02145
    Location:14981684
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin; Tuberin
    pfam11864
    Location:54466
    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
    Related
    ENSMUSP00000154706.1, ENSMUST00000228412.1
    Conserved Domains (3) summary
    pfam02145
    Location:14971683
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin; Tuberin
    pfam11864
    Location:54466
    DUF3384; Domain of unknown function (DUF3384)
  6. NM_001286720.1NP_001273649.1  tuberin isoform 5

    See identical proteins and their annotated locations for NP_001273649.1

    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, Q3UGI8, Q3UHB2
    Conserved Domains (3) summary
    pfam02145
    Location:15641756
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin; Tuberin
    pfam11864
    Location:54466
    DUF3384; Domain of unknown function (DUF3384)
  7. NM_011647.3NP_035777.2  tuberin isoform 1

    See identical proteins and their annotated locations for 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
    Related
    ENSMUSP00000153869.1, ENSMUST00000226284.1
    Conserved Domains (3) summary
    pfam02145
    Location:15411727
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin; Tuberin
    pfam11864
    Location:54466
    DUF3384; Domain of unknown function (DUF3384)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000083.6 Reference GRCm38.p4 C57BL/6J

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

mRNA and Protein(s)

  1. XM_017317392.1XP_017172881.1  tuberin isoform X10

  2. XM_017317389.1XP_017172878.1  tuberin isoform X7

  3. XM_017317388.1XP_017172877.1  tuberin isoform X6

  4. XM_017317387.1XP_017172876.1  tuberin isoform X4

  5. XM_017317385.1XP_017172874.1  tuberin isoform X2

  6. XM_006524044.2XP_006524107.1  tuberin isoform X9

    Conserved Domains (3) summary
    pfam02145
    Location:14971683
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:554902
    Tuberin; Tuberin
    pfam11864
    Location:54465
    DUF3384; Domain of unknown function (DUF3384)
  7. XM_006524040.2XP_006524103.1  tuberin isoform X5

    Conserved Domains (3) summary
    pfam02145
    Location:15401726
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:554902
    Tuberin; Tuberin
    pfam11864
    Location:54465
    DUF3384; Domain of unknown function (DUF3384)
  8. XM_017317386.1XP_017172875.1  tuberin isoform X3

  9. XM_017317384.1XP_017172873.1  tuberin isoform X1

    UniProtKB/TrEMBL
    Q3UHB2
    Conserved Domains (3) summary
    pfam02145
    Location:15641750
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin; Tuberin
    pfam11864
    Location:54466
    DUF3384; Domain of unknown function (DUF3384)
  10. XM_017317390.1XP_017172879.1  tuberin isoform X8

  11. XM_017317393.1XP_017172882.1  tuberin isoform X11

    Related
    ENSMUSP00000153758.1, ENSMUST00000227607.1
  12. XM_017317391.1XP_017172880.1  tuberin isoform X8

RNA

  1. XR_001782062.1 RNA Sequence

  2. XR_001782063.1 RNA Sequence

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