Homo sapiens Gene: TSC2
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
tuberous sclerosis 2
tuberous sclerosis 2
tuberous sclerosis 2
tuberous sclerosis 2
tuberous sclerosis 2
tuberous sclerosis 2
tuberous sclerosis 2
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
ENST00000382538 ENSP00000371978
ENST00000219476 ENSP00000219476
ENST00000350773 ENSP00000344383
ENST00000401874 ENSP00000384468
ENST00000432909 ENSP00000387937
ENST00000439673 ENSP00000399232
ENST00000439117 ENSP00000406980
ENST00000467949 ENSP00000454997
ENST00000483020 ENSP00000460310
ENST00000471143 ENSP00000458541
ENST00000568454 ENSP00000454487
ENST00000568566 ENSP00000455997
ENST00000569110 ENSP00000455817
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]
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
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
FSH pathway
AKT phosphorylates targets in the cytosol pathway
PIP3 activates AKT signaling pathway
DAP12 signaling pathway
DAP12 interactions pathway
PI3K/AKT activation pathway
Regulation of Rheb GTPase activity by AMPK pathway
GAB1 signalosome pathway
Signaling by EGFR pathway
PI3K events in ERBB4 signaling pathway
Signaling by ERBB4 pathway
Inhibition of TSC complex formation by PKB pathway
mTOR signalling pathway
PI3K Cascade pathway
Signaling by Insulin receptor pathway
IRS-related events triggered by IGF1R pathway
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) pathway
PI3K events in ERBB2 signaling pathway
Signaling by ERBB2 pathway
PI-3K cascade pathway
Signaling by FGFR pathway
Signaling by SCF-KIT pathway
Downstream signal transduction pathway
Signaling by PDGF pathway
Constitutive PI3K/AKT Signaling in Cancer pathway
Signaling by FGFR in disease pathway
Energy dependent regulation of mTOR by LKB1-AMPK pathway
Signalling by NGF pathway
Signaling by EGFR in Cancer pathway
Downstream signaling of activated FGFR pathway
PKB-mediated events pathway
Role of LAT2/NTAL/LAB on calcium mobilization pathway
Innate Immune System pathway
Fc epsilon receptor (FCERI) signaling pathway
Signal Transduction pathway
IRS-mediated signalling pathway
Adaptive Immune System pathway
Immune System pathway
Insulin receptor signalling cascade pathway
NGF signalling via TRKA from the plasma membrane pathway
IRS-related events pathway
IGF1R signaling cascade pathway
PI3K/AKT Signaling in Cancer pathway
Signaling by the B Cell Receptor (BCR) pathway
Downstream signaling events of B Cell Receptor (BCR) pathway
Disease pathway
mTOR signaling pathway pathway
Insulin signaling pathway pathway
p53 signaling pathway pathway
Insulin receptor signaling pathway
Direct p53 effectors
mTOR signaling pathway
Validated targets of C-MYC transcriptional repression
LKB1 signaling events
p38 signaling mediated by MAPKAP kinases
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
CCDS CCDS10458 CCDS45384 CCDS58408
HPRD 01850
RNA Seq Atlas