U.S. flag

An official website of the United States government

Tsc2 TSC complex subunit 2 [ Mus musculus (house mouse) ]

Gene ID: 22084, updated on 4-Jan-2025

Summary

Official Symbol
Tsc2provided by MGI
Official Full Name
TSC complex subunit 2provided by MGI
Primary source
MGI:MGI:102548
See related
Ensembl:ENSMUSG00000002496 AllianceGenome:MGI:102548
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
Summary
Enables 14-3-3 protein binding activity and GTPase activator activity. Involved in several processes, including anoikis; chemical synaptic transmission; and negative regulation of TORC1 signaling. Acts upstream of or within several processes, including intracellular protein transport; negative regulation of lymphocyte proliferation; and regulation of signal transduction. Located in cytoplasm. Part of TSC1-TSC2 complex. Is active in lysosomal membrane and synapse. Is expressed in several structures, including aorta; central nervous system; genitourinary system; hemolymphoid system gland; and retina. Used to study autism spectrum disorder; tuberous sclerosis; and uterine fibroid. Human ortholog(s) of this gene implicated in hepatic angiomyolipoma; lymphangioleiomyomatosis; medulloblastoma; tuberous sclerosis; and tuberous sclerosis 2. Orthologous to human TSC2 (TSC complex subunit 2). [provided by Alliance of Genome Resources, Jan 2025]
Expression
Ubiquitous expression in lung adult (RPKM 31.9), ovary adult (RPKM 27.3) and 28 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Tsc2 in Genome Data Viewer
Location:
17 A3.3; 17 12.41 cM
Exon count:
42
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (24814788..24851607, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (24595816..24632676, complement)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 33508 Neighboring gene STARR-positive B cell enhancer ABC_E1189 Neighboring gene predicted gene, 57643 Neighboring gene polycystin 1, transient receptor potential channel interacting Neighboring gene STARR-seq mESC enhancer starr_42089 Neighboring gene STARR-positive B cell enhancer ABC_E7498 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:24769632-24769741 Neighboring gene nth (endonuclease III)-like 1 (E.coli) Neighboring gene NHERF family PDZ scaffold protein 2

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 14-3-3 protein binding PubMed 
enables GTPase activator activity  
enables GTPase activator activity PubMed 
enables GTPase activator activity  
enables GTPase activator activity  
enables Hsp90 protein binding  
enables Hsp90 protein binding  
enables phosphatase binding  
enables phosphatase binding  
enables phosphatase binding  
enables protein binding PubMed 
enables protein homodimerization activity  
enables protein homodimerization activity  
enables protein-containing complex binding  
enables small GTPase binding  
enables small GTPase binding  
Items 1 - 25 of 72
Process Evidence Code Pubs
acts_upstream_of B cell proliferation PubMed 
acts_upstream_of_or_within D-glucose import PubMed 
acts_upstream_of T cell proliferation PubMed 
involved_in anoikis  
involved_in anoikis PubMed 
involved_in anoikis  
acts_upstream_of cell population proliferation PubMed 
acts_upstream_of cell population proliferation PubMed 
acts_upstream_of_or_within cell projection organization PubMed 
acts_upstream_of_or_within cellular response to insulin stimulus PubMed 
involved_in cellular response to starvation PubMed 
involved_in cellular response to starvation  
involved_in cellular response to starvation  
involved_in establishment of cell polarity  
involved_in excitatory chemical synaptic transmission PubMed 
acts_upstream_of_or_within heart development PubMed 
involved_in inhibitory chemical synaptic transmission PubMed 
acts_upstream_of_or_within negative regulation of B cell proliferation PubMed 
acts_upstream_of_or_within negative regulation of T cell proliferation PubMed 
involved_in negative regulation of TOR signaling  
involved_in negative regulation of TOR signaling PubMed 
acts_upstream_of_or_within negative regulation of TOR signaling PubMed 
involved_in negative regulation of TOR signaling  
involved_in negative regulation of TORC1 signaling PubMed 
involved_in negative regulation of TORC1 signaling  
involved_in negative regulation of TORC1 signaling PubMed 
involved_in negative regulation of TORC1 signaling  
involved_in negative regulation of Wnt signaling pathway  
involved_in negative regulation of Wnt signaling pathway  
involved_in negative regulation of axonogenesis  
acts_upstream_of_or_within negative regulation of cell population proliferation PubMed 
acts_upstream_of_or_within negative regulation of cell population proliferation PubMed 
involved_in negative regulation of cell population proliferation  
acts_upstream_of_or_within negative regulation of cell size PubMed 
involved_in negative regulation of epithelial cell proliferation  
involved_in negative regulation of epithelial to mesenchymal transition  
involved_in negative regulation of fibroblast proliferation  
involved_in negative regulation of insulin receptor signaling pathway  
involved_in negative regulation of macroautophagy  
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  
acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
involved_in negative regulation of pinocytosis  
acts_upstream_of_or_within negative regulation of protein kinase activity PubMed 
involved_in negative regulation of protein phosphorylation  
involved_in negative regulation of vascular endothelial cell proliferation  
acts_upstream_of_or_within neural tube closure PubMed 
acts_upstream_of_or_within positive chemotaxis PubMed 
involved_in positive regulation of autophagy PubMed 
involved_in positive regulation of cell adhesion  
involved_in positive regulation of dendritic spine development  
involved_in positive regulation of fibroblast migration  
acts_upstream_of_or_within positive regulation of insulin receptor signaling pathway PubMed 
acts_upstream_of_or_within positive regulation of insulin receptor signaling pathway PubMed 
involved_in positive regulation of macroautophagy  
acts_upstream_of_or_within positive regulation of macroautophagy PubMed 
involved_in positive regulation of macroautophagy PubMed 
involved_in positive regulation of macroautophagy  
involved_in positive regulation of neuron projection development  
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
acts_upstream_of_or_within protein import into nucleus PubMed 
acts_upstream_of_or_within protein localization PubMed 
involved_in protein localization to cell surface  
acts_upstream_of_or_within protein transport into plasma membrane raft PubMed 
involved_in regulation of cell cycle  
acts_upstream_of_or_within regulation of endocytosis PubMed 
acts_upstream_of_or_within regulation of insulin receptor signaling pathway PubMed 
involved_in regulation of postsynapse organization  
involved_in regulation of small GTPase mediated signal transduction  
acts_upstream_of_or_within response to hypoxia PubMed 
involved_in social behavior  
acts_upstream_of transcription by RNA polymerase II PubMed 
Items 1 - 25 of 72
Items 1 - 20 of 29
Component Evidence Code Pubs
located_in Golgi apparatus  
located_in Golgi apparatus  
part_of TSC1-TSC2 complex  
part_of TSC1-TSC2 complex PubMed 
part_of TSC1-TSC2 complex  
part_of TSC1-TSC2 complex  
located_in caveola  
located_in cell projection  
located_in cytoplasm PubMed 
colocalizes_with cytoplasm  
located_in cytoplasm  
located_in cytosol  
located_in dendrite  
is_active_in glutamatergic synapse  
located_in growth cone  
is_active_in lysosomal membrane PubMed 
located_in lysosomal membrane  
is_active_in lysosomal membrane  
located_in lysosome  
located_in membrane  
located_in neuronal cell body  
located_in nucleus  
located_in nucleus  
located_in perinuclear region of cytoplasm  
located_in perinuclear region of cytoplasm  
located_in postsynaptic density  
is_active_in postsynaptic density  
is_active_in synapse PubMed 
is_active_in synapse PubMed 
Items 1 - 20 of 29

General protein information

Preferred Names
tuberin
Names
tuberous sclerosis 2 protein homolog

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001039363.3NP_001034452.1  tuberin isoform 2

    See identical proteins and their annotated locations for NP_001034452.1

    Status: VALIDATED

    Source sequence(s)
    AC132367
    Consensus CDS
    CCDS28486.1
    UniProtKB/TrEMBL
    Q3TCQ7, Q7TT21
    Related
    ENSMUSP00000094986.2, ENSMUST00000097373.2
    Conserved Domains (3) summary
    pfam02145
    Location:14981684
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin
    pfam11864
    Location:54419
    DUF3384; Domain of unknown function (DUF3384)
  2. NM_001286713.2NP_001273642.1  tuberin isoform 3

    See identical proteins and their annotated locations for NP_001273642.1

    Status: VALIDATED

    Source sequence(s)
    AC132367
    Consensus CDS
    CCDS89010.1
    UniProtKB/TrEMBL
    Q3UG88, Q3UHB2
    Related
    ENSMUSP00000154338.2, ENSMUST00000227745.2
    Conserved Domains (3) summary
    pfam02145
    Location:15641750
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin
    pfam11864
    Location:54469
    DUF3384; Domain of unknown function (DUF3384)
  3. NM_001286714.2NP_001273643.1  tuberin isoform 1

    See identical proteins and their annotated locations for NP_001273643.1

    Status: VALIDATED

    Source sequence(s)
    AC132367
    Consensus CDS
    CCDS89009.1
    UniProtKB/TrEMBL
    A0A2I3BPP1, Q3UG88
    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_001286716.2NP_001273645.1  tuberin isoform 2

    See identical proteins and their annotated locations for NP_001273645.1

    Status: VALIDATED

    Source sequence(s)
    AC132367
    Consensus CDS
    CCDS28486.1
    UniProtKB/TrEMBL
    Q3TCQ7, Q7TT21
    Related
    ENSMUSP00000153792.2, ENSMUST00000226398.2
    Conserved Domains (3) summary
    pfam02145
    Location:14981684
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin
    pfam11864
    Location:54419
    DUF3384; Domain of unknown function (DUF3384)
  5. NM_001286718.2NP_001273647.1  tuberin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC132367
    Consensus CDS
    CCDS89008.1
    UniProtKB/TrEMBL
    A0A2I3BRT5, Q3TCQ7
    Related
    ENSMUSP00000154706.2, ENSMUST00000228412.2
    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_001286720.2NP_001273649.1  tuberin isoform 5

    See identical proteins and their annotated locations for NP_001273649.1

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/Swiss-Prot
    P97723, P97724, P97725, P97727, Q61007, Q61008, Q61037, Q9WUF6
    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_001403402.1NP_001390331.1  tuberin isoform 16

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3TCQ7
  8. NM_001403403.1NP_001390332.1  tuberin isoform 17

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3UG88
  9. NM_001403404.1NP_001390333.1  tuberin isoform 17

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3UG88
  10. NM_001403405.1NP_001390334.1  tuberin isoform 16

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3TCQ7
  11. NM_001403406.1NP_001390335.1  tuberin isoform 15

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3TCQ7
  12. NM_001403407.1NP_001390336.1  tuberin isoform 14

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3UG88
  13. NM_001403408.1NP_001390337.1  tuberin isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3UG88
  14. NM_001403409.1NP_001390338.1  tuberin isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3TCQ7
  15. NM_001403410.1NP_001390339.1  tuberin isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3TCQ7
  16. NM_001403411.1NP_001390340.1  tuberin isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3TCQ7
  17. NM_001403412.1NP_001390341.1  tuberin isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3TCQ7
  18. NM_001403413.1NP_001390342.1  tuberin isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3UG88
  19. NM_001403414.1NP_001390343.1  tuberin isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3UG88
  20. NM_001403415.1NP_001390344.1  tuberin isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3UG88
  21. NM_001403416.1NP_001390345.1  tuberin isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3TCQ7
  22. NM_001403417.1NP_001390346.1  tuberin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3TCQ7
  23. NM_001403418.1NP_001390347.1  tuberin isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC132367
    UniProtKB/TrEMBL
    Q3UG88
  24. NM_011647.4NP_035777.2  tuberin isoform 1

    See identical proteins and their annotated locations for NP_035777.2

    Status: VALIDATED

    Source sequence(s)
    AC132367
    Consensus CDS
    CCDS89009.1
    UniProtKB/TrEMBL
    A0A2I3BPP1, Q3UG88
    Related
    ENSMUSP00000153869.2, ENSMUST00000226284.2
    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)

RNA

  1. NR_175374.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC132367

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    24814788..24851607 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017317386.2XP_017172875.1  tuberin isoform X2

    UniProtKB/TrEMBL
    Q3UG88
    Conserved Domains (3) summary
    pfam02145
    Location:15631749
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:554902
    Tuberin
    pfam11864
    Location:54468
    DUF3384; Domain of unknown function (DUF3384)
  2. XM_017317384.3XP_017172873.1  tuberin isoform X19

    UniProtKB/TrEMBL
    Q3UG88, Q3UHB2
    Conserved Domains (3) summary
    pfam02145
    Location:15641750
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin
    pfam11864
    Location:54469
    DUF3384; Domain of unknown function (DUF3384)
  3. XM_017317393.2XP_017172882.1  tuberin isoform X16

    UniProtKB/TrEMBL
    Q3TCQ7
    Related
    ENSMUSP00000153758.2, ENSMUST00000227607.2
    Conserved Domains (3) summary
    pfam02145
    Location:14391625
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:496844
    Tuberin
    pfam11864
    Location:1410
    DUF3384; Domain of unknown function (DUF3384)
  4. XM_030249647.2XP_030105507.1  tuberin isoform X10

    UniProtKB/TrEMBL
    Q3UG88
    Conserved Domains (3) summary
    pfam02145
    Location:15051691
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:496844
    Tuberin
    pfam11864
    Location:1410
    DUF3384; Domain of unknown function (DUF3384)
  5. XM_036160475.1XP_036016368.1  tuberin isoform X3

    UniProtKB/TrEMBL
    Q3UG88
    Conserved Domains (3) summary
    pfam02145
    Location:15401726
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:555903
    Tuberin
    pfam11864
    Location:54419
    DUF3384; Domain of unknown function (DUF3384)
  6. XM_030249646.2XP_030105506.1  tuberin isoform X2

    UniProtKB/TrEMBL
    Q3UG88
    Conserved Domains (3) summary
    pfam02145
    Location:15631749
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:554902
    Tuberin
    pfam11864
    Location:54468
    DUF3384; Domain of unknown function (DUF3384)
  7. XM_017317390.2XP_017172879.1  tuberin isoform X10

    UniProtKB/TrEMBL
    Q3UG88
    Conserved Domains (3) summary
    pfam02145
    Location:15051691
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:496844
    Tuberin
    pfam11864
    Location:1410
    DUF3384; Domain of unknown function (DUF3384)
  8. XM_030249650.2XP_030105510.1  tuberin isoform X11

    UniProtKB/TrEMBL
    Q3UG88
    Conserved Domains (3) summary
    pfam02145
    Location:15041690
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:495843
    Tuberin
    pfam11864
    Location:1409
    DUF3384; Domain of unknown function (DUF3384)
  9. XM_030249648.1XP_030105508.1  tuberin isoform X10

    UniProtKB/TrEMBL
    Q3UG88
    Conserved Domains (3) summary
    pfam02145
    Location:15051691
    Rap_GAP; Rap/ran-GAP
    pfam03542
    Location:496844
    Tuberin
    pfam11864
    Location:1410
    DUF3384; Domain of unknown function (DUF3384)

RNA

  1. XR_004939509.1 RNA Sequence

  2. XR_003952103.2 RNA Sequence

External link. Please review our privacy policy.