Gene Page: TSC2

Summary ?
GeneID7249
SymbolTSC2
SynonymsLAM|PPP1R160|TSC4
Descriptiontuberous sclerosis 2
ReferenceMIM:191092|HGNC:HGNC:12363|Ensembl:ENSG00000103197|HPRD:01850|Vega:OTTHUMG00000128745
Gene typeprotein-coding
Map location16p13.3
Pascal p-value0.256
Sherlock p-value0.935
Fetal beta-0.517
eGeneCerebellar Hemisphere
Cerebellum
SupportCompositeSet
Darnell FMRP targets
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0217 

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
TTC7B0.520.53
AKTIP0.520.53
AUH0.520.52
STAR0.520.49
EPDR10.510.51
SLC25A400.510.47
DNAJA40.510.50
IDH3A0.510.52
HSPA4L0.500.51
C1orf1960.500.49
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AC010300.1-0.27-0.24
RP9P-0.26-0.30
BCL7C-0.25-0.31
RBMX2-0.25-0.22
AC005921.3-0.25-0.28
FAM159B-0.24-0.35
CLEC3B-0.23-0.29
SH2D2A-0.23-0.23
ANP32C-0.23-0.21
AF347015.18-0.23-0.08

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005096GTPase activator activityIDA9045618 
GO:0005515protein bindingIPI9580671 |10585443 |12364343 
GO:0042803protein homodimerization activityIPI10585443 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0001843neural tube closureISS-
GO:0030100regulation of endocytosisISS-
GO:0006469negative regulation of protein kinase activityISS-
GO:0006606protein import into nucleusISS-
GO:0008285negative regulation of cell proliferationISS-
GO:0014067negative regulation of phosphoinositide 3-kinase cascadeISS-
GO:0007507heart developmentISS-
GO:0008104protein localizationISS-
GO:0048009insulin-like growth factor receptor signaling pathwayISS-
GO:0051056regulation of small GTPase mediated signal transductionIEA-
GO:0050918positive chemotaxisISS-
GO:0045786negative regulation of cell cycleIEA-
GO:0043547positive regulation of GTPase activityIEA-
GO:0046626regulation of insulin receptor signaling pathwayISS-
GO:0051898negative regulation of protein kinase B signaling cascadeISS-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005794Golgi apparatusIDA8806680 
GO:0005794Golgi apparatusIDA10585443 
GO:0005829cytosolEXP15314020 |15589136 
GO:0005829cytosolIDA10585443 
GO:0005622intracellularIEA-
GO:0005624membrane fractionIDA16636147 
GO:0005634nucleusIDA17114346 
GO:0005634nucleusIDA16636147 
GO:0005737cytoplasmIDA9580671 |16636147 
GO:0005737cytoplasmIDA17114346 
GO:0016020membraneIEA-
GO:0048471perinuclear region of cytoplasmIDA8806680 
GO:0033596TSC1-TSC2 complexIDA9580671 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
AKT1AKT | MGC99656 | PKB | PKB-ALPHA | PRKBA | RAC | RAC-ALPHAv-akt murine thymoma viral oncogene homolog 1-HPRD,BioGRID12167664 
AKT1AKT | MGC99656 | PKB | PKB-ALPHA | PRKBA | RAC | RAC-ALPHAv-akt murine thymoma viral oncogene homolog 1Akt interacts with and phosphorylates tuberin. This interaction was modelled on a demonstrated interaction between Akt from an unspecified species and human Tuberin.BIND12150915 
AXIN1AXIN | MGC52315axin 1Affinity Capture-WesternBioGRID12511557 
CAV1CAV | MSTP085 | VIP21caveolin 1, caveolae protein, 22kDaCo-purificationBioGRID12147258 
CCND1BCL1 | D11S287E | PRAD1 | U21B31cyclin D1Affinity Capture-WesternBioGRID16357142 
CCND2KIAK0002 | MGC102758cyclin D2Affinity Capture-WesternBioGRID16357142 
CCND3-cyclin D3Affinity Capture-WesternBioGRID16357142 
CDKN1BCDKN4 | KIP1 | MEN1B | MEN4 | P27KIP1cyclin-dependent kinase inhibitor 1B (p27, Kip1)Affinity Capture-WesternBioGRID15355997 
FOXO1FKH1 | FKHR | FOXO1Aforkhead box O1Affinity Capture-Western
Co-localization
Reconstituted Complex		BioGRID17077083 
GSK3B-glycogen synthase kinase 3 betaAffinity Capture-Western
Biochemical Activity		BioGRID12511557 |16959574 
MAPK1ERK | ERK2 | ERT1 | MAPK2 | P42MAPK | PRKM1 | PRKM2 | p38 | p40 | p41 | p41mapkmitogen-activated protein kinase 1Affinity Capture-Western
Reconstituted Complex		BioGRID15851026 
MAPK1ERK | ERK2 | ERT1 | MAPK2 | P42MAPK | PRKM1 | PRKM2 | p38 | p40 | p41 | p41mapkmitogen-activated protein kinase 1Erk2 interacts with TSC2. This interaction was modelled on a demonstrated interaction between Erk2 from an unspecified species and human TSC2.BIND15851026 
NEK1DKFZp686D06121 | DKFZp686K12169 | KIAA1901 | MGC138800 | NY-REN-55NIMA (never in mitosis gene a)-related kinase 1NEK1 interacts with Tuberin.BIND14690447 
PAMPAL | PHMpeptidylglycine alpha-amidating monooxygenaseAffinity Capture-Western
Co-localization
Two-hybrid		BioGRID14559897 
PLK1PLK | STPK13polo-like kinase 1 (Drosophila)Affinity Capture-WesternBioGRID16339216 
PRKAA1AMPK | AMPKa1 | MGC33776 | MGC57364protein kinase, AMP-activated, alpha 1 catalytic subunitAffinity Capture-Western
Reconstituted Complex		BioGRID14651849 |15261145 
PTK2FADK | FAK | FAK1 | pp125FAKPTK2 protein tyrosine kinase 2Affinity Capture-Western
Reconstituted Complex		BioGRID17043358 
RAB5ARAB5RAB5A, member RAS oncogene family-HPRD9045618 
RAB5ARAB5RAB5A, member RAS oncogene familyCo-purificationBioGRID12147258 
RABEP1RAB5EP | RABPT5rabaptin, RAB GTPase binding effector protein 1-HPRD9045618 
RALAMGC48949 | RALv-ral simian leukemia viral oncogene homolog A (ras related)Affinity Capture-WesternBioGRID12842888 
RAP1AKREV-1 | KREV1 | RAP1 | SMGP21RAP1A, member of RAS oncogene familyAffinity Capture-Western
Co-purification		BioGRID12147258 |12842888 
RHEBMGC111559 | RHEB2Ras homolog enriched in brain-HPRD,BioGRID12842888 
RHEBMGC111559 | RHEB2Ras homolog enriched in brainTSC2 interacts with Rheb.BIND15854902 
RPS6KA1HU-1 | MAPKAPK1A | RSK | RSK1ribosomal protein S6 kinase, 90kDa, polypeptide 1Affinity Capture-Western
Reconstituted Complex		BioGRID15342917 |15757502 
SFNYWHASstratifin-HPRD12438239 
SKP2FBL1 | FBXL1 | FLB1 | MGC1366S-phase kinase-associated protein 2 (p45)Phenotypic SuppressionBioGRID15355997 
TSC1KIAA0243 | LAM | MGC86987 | TSCtuberous sclerosis 1Affinity Capture-MS
Affinity Capture-Western
Co-localization
Co-purification
Two-hybrid		BioGRID9580671 |10585443 
|10807585 |10915759 
|11175345 |11290735 
|11741832 |11741833 
|12167664 |12176984 
|12468542 |12511557 
|14551205 |14651849 
|15340059 |15851026 
|15963462 |16339216 
|16424383 |16636147 
|17077083 
TSC1KIAA0243 | LAM | MGC86987 | TSCtuberous sclerosis 1-HPRD10915759 |11741833 
TSC1KIAA0243 | LAM | MGC86987 | TSCtuberous sclerosis 1-HPRD9580671 |10915759 
|11741833|10915759 |11741833 
TSC1KIAA0243 | LAM | MGC86987 | TSCtuberous sclerosis 1Hamartin interacts with tuberinBIND9580671 
UBE3AANCR | AS | E6-AP | EPVE6AP | FLJ26981 | HPVE6Aubiquitin protein ligase E3AReconstituted ComplexBioGRID15175323 
YWHAA-tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptideAffinity Capture-Western
Two-hybrid		BioGRID12176984 |12364343 
|12468542 |12582162 
|16636147 
YWHABGW128 | HS1 | KCIP-1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide-HPRD12438239 |12468542 
YWHABGW128 | HS1 | KCIP-1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptideThe tumor suppressor protein tuberin interacts with 14-3-3-beta isoform. This interaction is modeled on demonstrated interaction between human tuberin and mouse 14-3-3-beta isoform.BIND12176984 
YWHAE14-3-3E | FLJ45465 | KCIP-1 | MDCR | MDStyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide-HPRD12438239 
YWHAE14-3-3E | FLJ45465 | KCIP-1 | MDCR | MDStyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptideTumor suppressor protein tuberin interacts with 14-3-3-epsilon isoform. This interaction is modeled on demonstrated interaction between human tuberin and mouse 14-3-3-epsilon isoform.BIND12176984 
YWHAG14-3-3GAMMAtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide-HPRD12438239 
YWHAG14-3-3GAMMAtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptideThe tumor suppressor protein tuberin interacts with 14-3-3-gamma isoform. This interaction is modeled on demonstrated interaction between human tuberin and mouse 14-3-3-gamma.BIND12176984 
YWHAHYWHA1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide-HPRD12438239 
YWHAHYWHA1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptideThe tumor suppressor protein tuberin interacts with 14-3-3-eta isoform. This interaction is modeled on demonstrated interaction between human tuberin and mouse 14-3-3-eta isoform.BIND12176984 
YWHAQ14-3-3 | 1C5 | HS1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptideAffinity Capture-MSBioGRID17353931 
YWHAQ14-3-3 | 1C5 | HS1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptideTumor suppressor protein tuberin interacts with 14-3-3-tau isoform. This interaction is modeled on demonstrated interaction between human tuberin and mouse 14-3-3-tau isoform.BIND12176984 
YWHAQ14-3-3 | 1C5 | HS1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide-HPRD12438239 
YWHAZKCIP-1 | MGC111427 | MGC126532 | MGC138156tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide-HPRD12176984 |12438239 
|12468542 
YWHAZKCIP-1 | MGC111427 | MGC126532 | MGC138156tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide-HPRD,BioGRID12176984 
YWHAZKCIP-1 | MGC111427 | MGC126532 | MGC138156tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptideTumor suppressor protein tuberin interacts with 14-3-3-zeta isoform.BIND11533041 |12176984 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG P53 SIGNALING PATHWAY 6945All SZGR 2.0 genes in this pathway
KEGG MTOR SIGNALING PATHWAY 5240All SZGR 2.0 genes in this pathway
KEGG INSULIN SIGNALING PATHWAY 137103All SZGR 2.0 genes in this pathway
BIOCARTA VDR PATHWAY 127All SZGR 2.0 genes in this pathway
BIOCARTA MTOR PATHWAY 2315All SZGR 2.0 genes in this pathway
SIG PIP3 SIGNALING IN CARDIAC MYOCTES 6754All SZGR 2.0 genes in this pathway
PID LKB1 PATHWAY 4737All SZGR 2.0 genes in this pathway
PID MTOR 4PATHWAY 6955All SZGR 2.0 genes in this pathway
PID P53 DOWNSTREAM PATHWAY 13794All SZGR 2.0 genes in this pathway
PID P38 MK2 PATHWAY 2119All SZGR 2.0 genes in this pathway
PID MYC REPRESS PATHWAY 6352All SZGR 2.0 genes in this pathway
REACTOME SIGNALLING BY NGF 217167All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY SCF KIT 7859All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY ERBB4 9067All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY ERBB2 10178All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY EGFR IN CANCER 10980All SZGR 2.0 genes in this pathway
REACTOME PI3K EVENTS IN ERBB4 SIGNALING 3828All SZGR 2.0 genes in this pathway
REACTOME PI3K EVENTS IN ERBB2 SIGNALING 4434All SZGR 2.0 genes in this pathway
REACTOME DOWNSTREAM SIGNALING EVENTS OF B CELL RECEPTOR BCR 9766All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY THE B CELL RECEPTOR BCR 12690All SZGR 2.0 genes in this pathway
REACTOME INSULIN RECEPTOR SIGNALLING CASCADE 8764All SZGR 2.0 genes in this pathway
REACTOME NGF SIGNALLING VIA TRKA FROM THE PLASMA MEMBRANE 137105All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY FGFR IN DISEASE 12788All SZGR 2.0 genes in this pathway
REACTOME PI3K AKT ACTIVATION 3829All SZGR 2.0 genes in this pathway
REACTOME AKT PHOSPHORYLATES TARGETS IN THE CYTOSOL 1210All SZGR 2.0 genes in this pathway
REACTOME GAB1 SIGNALOSOME 3829All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY PDGF 12293All SZGR 2.0 genes in this pathway
REACTOME DOWNSTREAM SIGNAL TRANSDUCTION 9576All SZGR 2.0 genes in this pathway
REACTOME PI 3K CASCADE 5639All SZGR 2.0 genes in this pathway
REACTOME DOWNSTREAM SIGNALING OF ACTIVATED FGFR 10074All SZGR 2.0 genes in this pathway
REACTOME ENERGY DEPENDENT REGULATION OF MTOR BY LKB1 AMPK 1815All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF RHEB GTPASE ACTIVITY BY AMPK 109All SZGR 2.0 genes in this pathway
REACTOME PKB MEDIATED EVENTS 2923All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY INSULIN RECEPTOR 10872All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
REACTOME ADAPTIVE IMMUNE SYSTEM 539350All SZGR 2.0 genes in this pathway
REACTOME PIP3 ACTIVATES AKT SIGNALING 2920All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY FGFR 11280All SZGR 2.0 genes in this pathway
REACTOME PI3K CASCADE 7151All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP 567375All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS DN 508354All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
APPIERTO RESPONSE TO FENRETINIDE UP 3826All SZGR 2.0 genes in this pathway
BENPORATH MYC TARGETS WITH EBOX 230156All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 16P13 AMPLICON 12049All SZGR 2.0 genes in this pathway
WEIGEL OXIDATIVE STRESS BY HNE AND H2O2 3929All SZGR 2.0 genes in this pathway
DAIRKEE CANCER PRONE RESPONSE E2 2821All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
MOOTHA PGC 420269All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION 368247All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway