Version 5.4
Homo sapiens Gene: TSC2
Summary
InnateDB Gene IDBG-9819.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TSC2
Gene Name tuberous sclerosis 2
Synonyms LAM; PPP1R160; TSC4
Species Homo sapiens
Ensembl Gene ENSG00000103197
Encoded Proteins
IDBP-9821
tuberous sclerosis 2
IDBP-9823
tuberous sclerosis 2
IDBP-9825
tuberous sclerosis 2
IDBP-292812
tuberous sclerosis 2
IDBP-364450
tuberous sclerosis 2
IDBP-364621
tuberous sclerosis 2
IDBP-364647
tuberous sclerosis 2
IDBP-751834
IDBP-753206
IDBP-752357
IDBP-751272
IDBP-753142
IDBP-754404
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:2047465-2088720
Strand Forward strand
Band p13.3
Transcripts
ENST00000382538 ENSP00000371978
ENST00000219476 ENSP00000219476
ENST00000350773 ENSP00000344383
ENST00000401874 ENSP00000384468
ENST00000432909 ENSP00000387937
ENST00000439673 ENSP00000399232
ENST00000439117 ENSP00000406980
ENST00000461648
ENST00000467949 ENSP00000454997
ENST00000463601
ENST00000490108
ENST00000488675
ENST00000463808
ENST00000483020 ENSP00000460310
ENST00000471143 ENSP00000458541
ENST00000497886
ENST00000568692
ENST00000561695
ENST00000568238
ENST00000569930
ENST00000568454 ENSP00000454487
ENST00000568566 ENSP00000455997
ENST00000563346
ENST00000562474
ENST00000569110 ENSP00000455817
ENST00000568366
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 115 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated
Total 115 [view]
Protein-Protein 112 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 14 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005096 GTPase activator activity
GO:0005488 binding
GO:0005515 protein binding
GO:0019902 phosphatase binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0071889 14-3-3 protein binding
Biological Process
GO:0001666 response to hypoxia
GO:0001843 neural tube closure
GO:0006469 negative regulation of protein kinase activity
GO:0006606 protein import into nucleus
GO:0006897 endocytosis
GO:0006953 acute-phase response
GO:0007050 cell cycle arrest
GO:0007165 signal transduction
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007507 heart development
GO:0008104 protein localization
GO:0008285 negative regulation of cell proliferation
GO:0008286 insulin receptor signaling pathway
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0014065 phosphatidylinositol 3-kinase signaling
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling
GO:0016192 vesicle-mediated transport
GO:0030030 cell projection organization
GO:0030100 regulation of endocytosis
GO:0030178 negative regulation of Wnt signaling pathway
GO:0032007 negative regulation of TOR signaling
GO:0032320 positive regulation of Ras GTPase activity
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0043407 negative regulation of MAP kinase activity
GO:0043491 protein kinase B signaling
GO:0043547 positive regulation of GTPase activity
GO:0045087 innate immune response
GO:0045184 establishment of protein localization
GO:0045792 negative regulation of cell size
GO:0046626 regulation of insulin receptor signaling pathway
GO:0046627 negative regulation of insulin receptor signaling pathway
GO:0048009 insulin-like growth factor receptor signaling pathway
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048015 phosphatidylinositol-mediated signaling
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050918 positive chemotaxis
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051260 protein homooligomerization
GO:0051291 protein heterooligomerization
GO:0051726 regulation of cell cycle
GO:0051898 negative regulation of protein kinase B signaling
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005901 caveola
GO:0016020 membrane
GO:0030425 dendrite
GO:0030426 growth cone
GO:0033596 TSC1-TSC2 complex
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043231 intracellular membrane-bounded organelle
GO:0043234 protein complex
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000002496
View Gene Order
ENSBTAG00000020617
Not yet available
Pathways
NETPATH
NetPath_25
FSH pathway
REACTOME
REACT_12564
AKT phosphorylates targets in the cytosol pathway
REACT_75829
PIP3 activates AKT signaling pathway
REACT_147814
DAP12 signaling pathway
REACT_147694
DAP12 interactions pathway
REACT_12464
PI3K/AKT activation pathway
REACT_21393
Regulation of Rheb GTPase activity by AMPK pathway
REACT_12578
GAB1 signalosome pathway
REACT_9417
Signaling by EGFR pathway
REACT_115961
PI3K events in ERBB4 signaling pathway
REACT_115596
Signaling by ERBB4 pathway
REACT_6743
Inhibition of TSC complex formation by PKB pathway
REACT_6838
mTOR signalling pathway
REACT_976
PI3K Cascade pathway
REACT_498
Signaling by Insulin receptor pathway
REACT_150203
IRS-related events triggered by IGF1R pathway
REACT_150359
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) pathway
REACT_116008
PI3K events in ERBB2 signaling pathway
REACT_115755
Signaling by ERBB2 pathway
REACT_21270
PI-3K cascade pathway
REACT_9470
Signaling by FGFR pathway
REACT_111040
Signaling by SCF-KIT pathway
REACT_17025
Downstream signal transduction pathway
REACT_16888
Signaling by PDGF pathway
REACT_147727
Constitutive PI3K/AKT Signaling in Cancer pathway
REACT_120736
Signaling by FGFR in disease pathway
REACT_21387
Energy dependent regulation of mTOR by LKB1-AMPK pathway
REACT_11061
Signalling by NGF pathway
REACT_115871
Signaling by EGFR in Cancer pathway
REACT_21272
Downstream signaling of activated FGFR pathway
REACT_456
PKB-mediated events pathway
REACT_163769
Role of LAT2/NTAL/LAB on calcium mobilization pathway
REACT_6802
Innate Immune System pathway
REACT_163936
Fc epsilon receptor (FCERI) signaling pathway
REACT_111102
Signal Transduction pathway
REACT_332
IRS-mediated signalling pathway
REACT_75774
Adaptive Immune System pathway
REACT_6900
Immune System pathway
REACT_1195
Insulin receptor signalling cascade pathway
REACT_12056
NGF signalling via TRKA from the plasma membrane pathway
REACT_762
IRS-related events pathway
REACT_150210
IGF1R signaling cascade pathway
REACT_147723
PI3K/AKT Signaling in Cancer pathway
REACT_118773
Signaling by the B Cell Receptor (BCR) pathway
REACT_118638
Downstream signaling events of B Cell Receptor (BCR) pathway
REACT_116125
Disease pathway
KEGG
hsa04150
mTOR signaling pathway pathway
hsa04910
Insulin signaling pathway pathway
hsa04115
p53 signaling pathway pathway
INOH
INOH website
Insulin receptor signaling pathway
PID NCI
p53downstreampathway
Direct p53 effectors
mtor_4pathway
mTOR signaling pathway
myc_represspathway
Validated targets of C-MYC transcriptional repression
lkb1_pathway
LKB1 signaling events
p38_mk2pathway
p38 signaling mediated by MAPKAP kinases
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.90303
RefSeq NM_000548 NM_001077183 NM_001114382 XM_005255527 XM_005255528 XM_005255529 XM_005255530 XM_005255531 XM_005255532
HUGO
OMIM
CCDS CCDS10458 CCDS45384 CCDS58408
HPRD 01850
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca