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Aliases for TSC2 Gene

Aliases for TSC2 Gene

  • TSC Complex Subunit 2 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 160 2 3
  • Tuberous Sclerosis 2 Protein 3 4
  • TSC4 3 4
  • Tuberous Sclerosis 2 2
  • PPP1R160 3
  • Tuberin 3
  • LAM 3

External Ids for TSC2 Gene

Previous HGNC Symbols for TSC2 Gene

  • TSC4

Previous GeneCards Identifiers for TSC2 Gene

  • GC16P002115
  • GC16P002038
  • GC16P002037
  • GC16P002097
  • GC16P002070
  • GC16P002072
  • GC16P002080
  • GC16P002087
  • GC16P002105
  • GC16P002135
  • GC16P002176

Summaries for TSC2 Gene

Entrez Gene Summary for TSC2 Gene

  • 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]

CIViC summary for TSC2 Gene

GeneCards Summary for TSC2 Gene

TSC2 (TSC Complex Subunit 2) is a Protein Coding gene. Diseases associated with TSC2 include Lymphangioleiomyomatosis and Tuberous Sclerosis 2. Among its related pathways are Constitutive Signaling by AKT1 E17K in Cancer and Translation Translation regulation by Alpha-1 adrenergic receptors. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and binding. An important paralog of this gene is RALGAPA1.

UniProtKB/Swiss-Prot for TSC2 Gene

  • In complex with TSC1, this tumor suppressor inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. May also play a role in microtubule-mediated protein transport. Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5.

Gene Wiki entry for TSC2 Gene

Additional gene information for TSC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSC2 Gene

Genomics for TSC2 Gene

GeneHancer (GH) Regulatory Elements for TSC2 Gene

Promoters and enhancers for TSC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I002046 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 562.6 +0.2 178 2.6 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 E2F8 ZNF207 TSC2 GC16M002062 NTHL1 ENSG00000261505 TELO2 CRAMP1 ENSG00000260954 NUBP2 SRRM2 ERVK13-1
GH16I001308 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 141.1 -736.7 -736711 5.2 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 UBE2I LOC102723815 WDR90 CRAMP1 TELO2 ENSG00000261505 E4F1 TSC2 ENSG00000260051 IFT140
GH16I003019 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 72.4 +974.8 974838 5.2 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 SP3 NFYC THOC6 HCFC1R1 TNFRSF12A ZNF263 ENSG00000261938 E4F1 SRRM2 TSC2 ERVK13-1 ZNF75A
GH16I001271 Enhancer 1.1 ENCODE 150.1 -775.6 -775639 1.6 PKNOX1 SMAD1 SIN3A FEZF1 ZNF2 ZNF213 ZNF302 ZNF416 KLF13 SP3 CRAMP1 WDR90 IFT140 TELO2 ENSG00000260646 TSC2 ENSG00000261505 E4F1 WDR24 ENSG00000260051
GH16I002147 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 44.7 +108.3 108325 17.4 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 TRAF7 SNORD60 SNHG19 ENSG00000281010 GC16M002156 GC16M002158 RAB26 ENSG00000261505 ENSG00000260051 SRRM2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TSC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TSC2 gene promoter:

Genomic Locations for TSC2 Gene

Genomic Locations for TSC2 Gene
chr16:2,047,465-2,088,720
(GRCh38/hg38)
Size:
41,256 bases
Orientation:
Plus strand
chr16:2,097,466-2,138,716
(GRCh37/hg19)

Genomic View for TSC2 Gene

Genes around TSC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSC2 Gene

Proteins for TSC2 Gene

  • Protein details for TSC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49815-TSC2_HUMAN
    Recommended name:
    Tuberin
    Protein Accession:
    P49815
    Secondary Accessions:
    • A7E2E2
    • B4DIL8
    • B4DIQ7
    • B4DRN2
    • B7Z2B8
    • C9J378
    • O75275
    • Q4LE71
    • Q8TAZ1

    Protein attributes for TSC2 Gene

    Size:
    1807 amino acids
    Molecular mass:
    200608 Da
    Quaternary structure:
    • Interacts with TSC1 and HERC1; the interaction with TSC1 stabilizes TSC2 and prevents the interaction with HERC1 (PubMed:9580671, PubMed:10585443, PubMed:15963462, PubMed:16464865). May also interact with the adapter molecule RABEP1 (PubMed:9045618). The final complex contains TSC2 and RABEP1 linked to RAB5 (Probable). Interacts with HSPA1 and HSPA8 (PubMed:15963462). Interacts with DAPK1 (PubMed:18974095). Interacts with FBXW5 (PubMed:18381890). Interacts with NAA10 (via C-terminal domain) (PubMed:20145209). Interacts with RRAGA (polyubiquitinated) (PubMed:25936802). Interacts with human cytomegalovirus protein UL38; this interaction inhibits cellular stress response mediated by mTORC1 (PubMed:18407068).
    SequenceCaution:
    • Sequence=BAE06082.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TSC2 Gene

neXtProt entry for TSC2 Gene

Post-translational modifications for TSC2 Gene

  • Phosphorylation at Ser-1387, Ser-1418 or Ser-1420 does not affect interaction with TSC1. Phosphorylation at Ser-939 and Thr-1462 by PKB/AKT1 is induced by growth factor stimulation. Phosphorylation by AMPK activates it and leads to negatively regulates the mTORC1 complex. Phosphorylated at Ser-1798 by RPS6KA1; phosphorylation inhibits TSC2 ability to suppress mTORC1 signaling. Phosphorylated by DAPK1.
  • Ubiquitinated by the DCX(FBXW5) E3 ubiquitin-protein ligase complex, leading to its subsequent degradation. Ubiquitinated by MYCBP2 independently of its phosphorylation status leading to subsequent degradation; association with TSC1 protects from ubiquitination.
  • Ubiquitination at posLast=3434, isoforms=2, 3, 4, 5, 7, 872, isoforms=2, 3, 4, 5, 6, 7438, isoforms=2, 3, 4, 5, 6, 7634, posLast=914914, posLast=930930, isoforms=2, 3, 4, 5, 6, 71251, posLast=17011701, and posLast=17391739
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for TSC2 Gene

Domains & Families for TSC2 Gene

Gene Families for TSC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for TSC2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TSC2: view

No data available for UniProtKB/Swiss-Prot for TSC2 Gene

Function for TSC2 Gene

Molecular function for TSC2 Gene

UniProtKB/Swiss-Prot Function:
In complex with TSC1, this tumor suppressor inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. May also play a role in microtubule-mediated protein transport. Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5.

Phenotypes From GWAS Catalog for TSC2 Gene

Gene Ontology (GO) - Molecular Function for TSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,IDA 9045618
GO:0005515 protein binding IPI 9580671
GO:0019902 phosphatase binding IDA 19389623
GO:0031267 small GTPase binding IPI 25936802
GO:0042803 protein homodimerization activity IPI 10585443
genes like me logo Genes that share ontologies with TSC2: view
genes like me logo Genes that share phenotypes with TSC2: view

Human Phenotype Ontology for TSC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TSC2 Gene

MGI Knock Outs for TSC2:

Animal Model Products

miRNA for TSC2 Gene

miRTarBase miRNAs that target TSC2

Clone Products

  • Addgene plasmids for TSC2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TSC2 Gene

Localization for TSC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSC2 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSC2 gene
Compartment Confidence
nucleus 5
cytosol 5
lysosome 5
golgi apparatus 5
plasma membrane 4
cytoskeleton 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 NOT nucleus IDA,IEA 16636147
GO:0005737 colocalizes_with cytoplasm IDA,IEA 17114346
GO:0005764 lysosome IDA 25936802
GO:0005794 NOT Golgi apparatus IDA 10585443
GO:0005829 cytosol TAS,IDA --
genes like me logo Genes that share ontologies with TSC2: view

Pathways & Interactions for TSC2 Gene

SuperPathway Contained pathways
1 RET signaling
2 Regulation of lipid metabolism Insulin signaling-generic cascades
3 mTOR signalling
4 PI3K/AKT activation
5 Type I Interferon Signaling Pathways
genes like me logo Genes that share pathways with TSC2: view

Pathways by source for TSC2 Gene

SIGNOR curated interactions for TSC2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for TSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure ISS --
GO:0006469 negative regulation of protein kinase activity ISS --
GO:0006606 protein import into nucleus ISS --
GO:0006897 endocytosis TAS 9045618
GO:0007050 cell cycle arrest TAS --
genes like me logo Genes that share ontologies with TSC2: view

Drugs & Compounds for TSC2 Gene

(24) Drugs for TSC2 Gene - From: PharmGKB, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 2011
Miconazole Approved, Investigational, Vet_approved Pharma Antagonist, Pore Blocker 3838
Sirolimus Approved, Investigational Pharma Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 2011
Anti-Bacterial Agents Pharma 12177
Antibiotics, Antitubercular Pharma 7614

(9) Additional Compounds for TSC2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TSC2: view

Transcripts for TSC2 Gene

Unigene Clusters for TSC2 Gene

Tuberous sclerosis 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for TSC2

Alternative Splicing Database (ASD) splice patterns (SP) for TSC2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c · 17d ^ 18 ^ 19 ^
SP1: - - - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8: