AutismKB

Annotation Detail for TSC2


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Basic Information Top
Gene Symbol:TSC2 ( FLJ43106,LAM,TSC4 )
Gene Full Name: tuberous sclerosis 2
Band: 16p13.3
Quick LinksEntrez ID:7249; OMIM: 191092; Uniprot ID:TSC2_HUMAN; ENSEMBL ID: ENSG00000103197
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005622IEA-intracellular-
GO:0005624IDA-membrane fraction16636147
GO:0005634IDA-nucleus17114346
GO:0005634IDANOTnucleus16636147
GO:0005737IDA-cytoplasm18029348
GO:0005737IDAcolocalizes_withcytoplasm17114346
GO:0005792IEA-microsome-
GO:0005794IDA-Golgi apparatus8806680
GO:0005794IDANOTGolgi apparatus10585443
GO:0005829EXP-cytosol14651849
GO:0005829IDA-cytosol10585443
GO:0005829TAS-cytosol-
GO:0005901IEA-caveola-
GO:0016020IEA-membrane-
GO:0030425IEA-dendrite-
GO:0030426IEA-growth cone-
GO:0033596IDA-TSC1-TSC2 complex9580671
GO:0043025IEA-neuronal cell body-
GO:0044430IEA-cytoskeletal part-
GO:0048471IDA-perinuclear region of cytoplasm8806680
GO ID Evidence Qualifier GO_term References
GO:0005096IDA-GTPase activator activity9045618
GO:0005515IPI-protein binding17353931
GO:0042803IPI-protein homodimerization activity10585443
GO:0046982IEA-protein heterodimerization activity-
GO:0071889IEA-14-3-3 protein binding-
GO ID Evidence Qualifier GO_term References
GO:0001666IEA-response to hypoxia-
GO:0001843ISS-neural tube closure-
GO:0006469ISS-negative regulation of protein kinase activity-
GO:0006606ISS-protein import into nucleus-
GO:0006897TAS-endocytosis9045618
GO:0006953IEA-acute-phase response-
GO:0007050TAS-cell cycle arrest-
GO:0007165IEA-signal transduction-
GO:0007507ISS-heart development-
GO:0008104ISS-protein localization-
GO:0008285ISS-negative regulation of cell proliferation-
GO:0008286TAS-insulin receptor signaling pathway-
GO:0014065ISS-phosphatidylinositol 3-kinase cascade-
GO:0014067ISS-negative regulation of phosphatidylinositol 3-kinase cascade-
GO:0016192TAS-vesicle-mediated transport9045618
GO:0030030IEA-cell projection organization-
GO:0030100ISS-regulation of endocytosis-
GO:0030178ISS-negative regulation of Wnt receptor signaling pathway-
GO:0032007ISS-negative regulation of TOR signaling cascade-
GO:0032956IEA-regulation of actin cytoskeleton organization-
GO:0043407IEA-negative regulation of MAP kinase activity-
GO:0043491ISS-protein kinase B signaling cascade-
GO:0043547IDA-positive regulation of GTPase activity9045618
GO:0045184IEA-establishment of protein localization-
GO:0045792IEA-negative regulation of cell size-
GO:0046626ISS-regulation of insulin receptor signaling pathway-
GO:0048009ISS-insulin-like growth factor receptor signaling pathway-
GO:0048011TAS-nerve growth factor receptor signaling pathway-
GO:0048015TAS-phosphatidylinositol-mediated signaling-
GO:0050680IEA-negative regulation of epithelial cell proliferation-
GO:0050918ISS-positive chemotaxis-
GO:0051056IEA-regulation of small GTPase mediated signal transduction-
GO:0051260IEA-protein homooligomerization-
GO:0051291IEA-protein heterooligomerization-
GO:0051492IEA-regulation of stress fiber assembly-
GO:0051726ISS-regulation of cell cycle-
GO:0051893IEA-regulation of focal adhesion assembly-
GO:0051898ISS-negative regulation of protein kinase B signaling cascade-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TSC2AKT111310012167664 15342917 Affinity Capture-Western; Reconstituted Complex
TSC2AKT110671012167664 15342917 Affinity Capture-Western; Reconstituted Complex
TSC2CCND111310016357142 Affinity Capture-Western
TSC2CCND110706716357142 Affinity Capture-Western
TSC2CAV110730512147258 Co-purification
TSC2CAV111310012147258 Co-purification
TSC2CCND211310016357142 Affinity Capture-Western
TSC2CCND210733416357142 Affinity Capture-Western
TSC2CCND311310016357142 Affinity Capture-Western
TSC2CCND310733616357142 Affinity Capture-Western
TSC2CDKN1B11310015355997 Affinity Capture-Western
TSC2CDKN1B10746115355997 Affinity Capture-Western
TSC2FOXO111310017077083 Affinity Capture-Western; Co-localization; Reconstituted Complex
TSC2FOXO110859717077083 Affinity Capture-Western; Co-localization; Reconstituted Complex
TSC2GSK3B11310012511557 16959574 Affinity Capture-Western; Biochemical Activity
TSC2GSK3B10918712511557 16959574 Affinity Capture-Western; Biochemical Activity
TSC2PAM11110114559897 Affinity Capture-Western; Co-localization; Two-hybrid
TSC2PAM11310014559897 Affinity Capture-Western; Co-localization; Two-hybrid
TSC2PLK111310016339216 Affinity Capture-Western
TSC2PLK111136216339216 Affinity Capture-Western
TSC2PRKAA111310014651849 15261145 Affinity Capture-Western; Reconstituted Complex
TSC2PRKAA111154914651849 15261145 Affinity Capture-Western; Reconstituted Complex
TSC2MAPK111158015851026 Affinity Capture-Western; Reconstituted Complex
TSC2MAPK111310015851026 Affinity Capture-Western; Reconstituted Complex
TSC2PTK211310017043358 Affinity Capture-Western; Reconstituted Complex
TSC2PTK211171917043358 Affinity Capture-Western; Reconstituted Complex
TSC2RAB5A11310012147258 Co-purification
TSC2RAB5A11180612147258 Co-purification
TSC2RALA11310012842888 Affinity Capture-Western
TSC2RALA11183412842888 Affinity Capture-Western
TSC2RAP1A11310012147258 12842888 Affinity Capture-Western; Co-purification
TSC2RAP1A11184112147258 12842888 Affinity Capture-Western; Co-purification
TSC2RHEB11310012771962 12820960 12842888 12869586 15854902 17077083 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
TSC2RHEB11194112771962 12820960 12842888 12869586 15854902 17077083 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
TSC2RPS6KA111310015342917 15757502 Affinity Capture-Western; Reconstituted Complex
TSC2RPS6KA111210915342917 15757502 Affinity Capture-Western; Reconstituted Complex
TSC2SKP211310015355997 Phenotypic Suppression
TSC2SKP211239315355997 Phenotypic Suppression
TSC2TSC11131009580671 10807585 10915759 11175345 11290735 11741832 11741833 12167664 12176984 12511557 14551205 14651849 15340059 15851026 15963462 16339216 16424383 16636147 17077083 17658474 Affinity Capture-MS; Affinity Capture-Western; Co-localization; Two-hybrid
TSC2TSC11130999580671 10807585 10915759 11175345 11290735 11741832 11741833 12167664 12176984 12511557 14551205 14651849 15340059 15851026 15963462 16339216 16424383 16636147 17077083 17658474 Affinity Capture-MS; Affinity Capture-Western; Co-localization; Two-hybrid
YWHABTSC211310012176984 12364343 12468542 12582162 16636147 Affinity Capture-Western; Two-hybrid
YWHABTSC211336112176984 12364343 12468542 12582162 16636147 Affinity Capture-Western; Two-hybrid
YWHAZTSC211310012176984 Reconstituted Complex; Two-hybrid
YWHAZTSC211336612176984 Reconstituted Complex; Two-hybrid
AXIN1TSC211310012511557 Affinity Capture-Western
AXIN1TSC211390912511557 Affinity Capture-Western
UBE3ATSC211310015175323 18298802 Affinity Capture-Western; Reconstituted Complex
UBE3ATSC211318515175323 18298802 Affinity Capture-Western; Reconstituted Complex
YWHAQTSC211616817353931 Affinity Capture-MS
YWHAQTSC211310017353931 Affinity Capture-MS
TBC1D7TSC211310017658474 Affinity Capture-Western; Reconstituted Complex
TBC1D7TSC211941217658474 Affinity Capture-Western; Reconstituted Complex
UBCTSC211310018298802 Affinity Capture-Western
UBCTSC211316418298802 Affinity Capture-Western
FBXW5TSC211310018381890 Affinity Capture-Western
FBXW5TSC211996718381890 Affinity Capture-Western
No data
No data
Genomic Variants Top
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_5329 chr16:1-2713166 17116639 Illumina HumanHap300 BeadChip 1 1- 272 control samples TRAF7, ABCA3, RPL3L, SNHG9, GFER, NTHL1, CLCN7, C16orf42, TBC1D24, MIR1225, AMDHD2, C16orf79, NARFL, TPSAB1, NPW, RPS2, RNPS1, BAIAP3, DNASE1L2, STUB1, TPSB2, MIR3176, NDUFB10, PIGQ, LOC100134368, HBZ, FBXL16, LOC146336, WDR24, PGP, HBQ1, RGS11, PRSS27, IFT140, RPUSD1, ATP6V0C, TPSD1, NPRL3, CCDC154, AXIN1, ITFG3, LMF1, LOC100288778, NUBP2, SNORA10, LOC652276, RAB40C, LUC7L, FLJ42627, PDIA2, MIR3177, NCRNA00235, MSLN, TMEM204, MRPL28, TPSG1, HAGH, SOX8, CACNA1H, MSLNL, DECR2, TELO2, IGFALS, UNKL, RHBDF1, MIR940, ABCA17P, SLC9A3R2, SNRNP25, TSC2, JMJD8, PKD1, POLR3K, CCDC78, FAHD1, MPG, CEMP1, METRN, WFIKKN1, FAM173A, SOLH, MLST8, NHLRC4, RHOT2, NOXO1, C16orf73, NTN3, NCRNA00254, PDPK1, SSTR5, PRR25, C16orf11, TBL3, HN1L, RAB26, C16orf59, MAPK8IP3, CCNF, HS3ST6, SNORD60, MIR662, RHBDL1, DCI, MIR3178, SYNGR3, CRAMP1L, PTX4, ARHGDIG, WDR90, RAB11FIP3, MRPS34, KCTD5, CASKIN1, HAGHL, EME2, HBM, GNPTG, TMEM8A, SNORA78, C1QTNF8, UBE2I, C16orf13, RNF151, E4F1, HBA2, SNORA64, FAM195A, C16orf91, SEPX1, CHTF18, HBA1, GNG13, SPSB3, ZNF598
Variation_30000 chr16:1985732-2085788 18288195 Illumina HumanHap550 BeadChip 0 3 3- 485 control samples (Human Genome Diversity Panel) NTHL1, MIR1225, NPW, SLC9A3R2, TSC2, PKD1, ZNF598
Variation_114072 chr16:2038602-2041177 20364138 Custom Agilent 24M oligonucleotide CGH array 0 1 1- 30 Asian Individuals (10 Koreans (KOR), 10 HapMap Chinese (CHB) and 10 HapMap Japanese (JPT) individuals) TSC2
No data
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
TSC2TSC2_A1/A2 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:102548
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:1857938Tsc2[tm1Djk]Allele from Mouse Targeted (knock-out)
  • tumorigenesis
  • nervous system phenotype
  • liver/biliary system phenotype
  • behavior/neurological phenotype
MGI:1926345Tsc2[tm1Tno]Allele from Mouse Targeted (Reporter)
  • tumorigenesis
  • nervous system phenotype
  • growth/size phenotype
  • embryogenesis phenotype
  • cardiovascular system phenotype
MGI:3712062Tsc2[tm1Mjg]Allele from Mouse Targeted (Floxed/Frt)
  • nervous system phenotype
  • renal/urinary system phenotype
  • growth/size phenotype
  • embryogenesis phenotype
MGI:3712063Tsc2[tm1.1Mjg]Allele from Mouse Targeted (Floxed/Frt)
  • normal phenotype
  • nervous system phenotype
MGI:3712064Tsc2[tm1.2Mjg]Allele from Mouse Targeted (knock-out)
  • tumorigenesis
  • renal/urinary system phenotype
  • growth/size phenotype
  • embryogenesis phenotype
MGI:3795269Tsc2[tm1Kido]Allele from Mouse Targeted (Floxed/Frt)
  • normal phenotype
  • homeostasis/metabolism phenotype
  • growth/size phenotype
  • endocrine/exocrine gland phenotype
MGI:3795271Tsc2[tm1.1Kido]Allele from Mouse Targeted (knock-out)
  • tumorigenesis
MGI:4354599Tsc2[tm2.1Djk]Allele from Mouse Targeted (Floxed/Frt)
  • normal phenotype
MGI:4354601Tsc2[tm2.2Djk]Allele from Mouse Targeted (other)
  • tumorigenesis
  • nervous system phenotype
  • liver/biliary system phenotype
  • growth/size phenotype
  • embryogenesis phenotype
  • cellular phenotype
  • cardiovascular system phenotype
  • hematopoietic system phenotype

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