Gene table of TSC2 : tuberous sclerosis 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with TSC2OMIM linkNumber of associated genesgenes
PS142623HIRSCHSPRUNG DISEASEClinVar link to OMIM 21TSC2, KDR, GDNF, PTCH1, GFRA1, NTF3, IRAK3, EDN3, ZHX2, THBS4, AHNAK, POLR2F, FBN1, RET, CNTN5, DPYD, EDNRB, CREBBP, SEMA3D, FAT3, PLAU
PS191100TUBEROUS SCLEROSISClinVar, OMIM, HUMSAVAR link to OMIM 4TSC2, IFNG, SERPINC1, TSC1
606690LYMPHANGIOLEIOMYOMATOSISClinVar, OMIM, HUMSAVAR link to OMIM 2TSC2, TSC1

Download the gene annotation in CSV format

Annotation of the gene TSC2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
p53 signaling pathwayhsa041156.56
Insulin signaling pathwayhsa049105.55
Choline metabolism in cancerhsa052316.09
Thyroid hormone signaling pathwayhsa049195.82
AMPK signaling pathwayhsa041525.8
mTOR signaling pathwayhsa041506.72
PI3K-Akt signaling pathwayhsa041514.21
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Transcriptional Regulation by TP53R-HSA-37009896.73
PI3K/AKT activationR-HSA-1982036.32
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.85
PI3K CascadeR-HSA-1097046.68
Immune SystemR-HSA-1682562.37
Signaling by the B Cell Receptor (BCR)R-HSA-9837054.62
IGF1R signaling cascadeR-HSA-24289244.85
Downstream signal transductionR-HSA-1867634.65
GAB1 signalosomeR-HSA-1802926.31
IRS-related events triggered by IGF1RR-HSA-24289284.85
Signaling by ERBB4R-HSA-12363944.7
Signaling by FGFRR-HSA-1902364.67
Signaling by Insulin receptorR-HSA-747524.73
Adaptive Immune SystemR-HSA-12802183.19
DiseaseR-HSA-16436853.33
Role of LAT2/NTAL/LAB on calcium mobilizationR-HSA-27309054.95
Downstream signaling of activated FGFR1R-HSA-56546874.71
Signalling by NGFR-HSA-1665204.23
PI-3K cascade:FGFR3R-HSA-56547106.37
PI-3K cascade:FGFR4R-HSA-56547206.37
Gene ExpressionR-HSA-741602.72
PI-3K cascade:FGFR1R-HSA-56546896.37
Cellular responses to stressR-HSA-22627524.56
IRS-mediated signallingR-HSA-1123994.87
Constitutive Signaling by AKT1 E17K in CancerR-HSA-56744008.4
Downstream signaling events of B Cell Receptor (BCR)R-HSA-11683725.59
Downstream signaling of activated FGFR3R-HSA-56547084.71
Insulin receptor signalling cascadeR-HSA-747514.85
Signaling by FGFR4R-HSA-56547434.69
Signaling by FGFR3R-HSA-56547414.69
Inhibition of TSC complex formation by PKBR-HSA-16518111.4
Energy dependent regulation of mTOR by LKB1-AMPKR-HSA-3809728.18
PI3K/AKT Signaling in CancerR-HSA-22195286.56
Diseases of signal transductionR-HSA-56632024.89
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
Innate Immune SystemR-HSA-1682493.17
Signaling by SCF-KITR-HSA-14335574.73
Signaling by ERBB2R-HSA-12279864.66
PI3K events in ERBB2 signalingR-HSA-19636426.37
AKT phosphorylates targets in the cytosolR-HSA-1983239.28
PI-3K cascade:FGFR2R-HSA-56546956.37
Downstream signaling of activated FGFR2R-HSA-56546964.71
TP53 Regulates Metabolic GenesR-HSA-56288976.73
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.51
MacroautophagyR-HSA-16328526.92
PIP3 activates AKT signalingR-HSA-12576046.37
Signaling by FGFR2R-HSA-56547384.68
Signaling by FGFR1R-HSA-56547364.69
PI3K events in ERBB4 signalingR-HSA-12503426.37
Signaling by EGFRR-HSA-1779294.59
mTOR signallingR-HSA-1651597.7
Generic Transcription PathwayR-HSA-2124363.86
DAP12 interactionsR-HSA-21721274.56
PKB-mediated eventsR-HSA-1097037.66
Downstream signaling of activated FGFR4R-HSA-56547164.71
Signaling by PDGFR-HSA-1867974.53
Signal TransductionR-HSA-1625821.78
DAP12 signalingR-HSA-24244914.64
Associated GO terms for Molecular function
GO termGO IDGO IC
GTPase regulator activityGO:00306954.01
enzyme regulator activityGO:00302342.85
GTPase activator activityGO:00050964.11
enzyme bindingGO:00198992.27
small GTPase bindingGO:00312674.13
GTPase bindingGO:00510204.05
phosphatase bindingGO:00199024.63
bindingGO:00054880.18
protein bindingGO:00055150.46
enzyme activator activityGO:00080473.56
protein dimerization activityGO:00469832.72
molecular function regulatorGO:00987722.51
nucleoside-triphosphatase regulator activityGO:00605893.92
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16