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Aliases for TSC2 Gene

Aliases for TSC2 Gene

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

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 Tsc2 Angiomyolipomas, Renal, Modifier Of. Among its related pathways are Akt Signaling and RET signaling. 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

Regulatory Elements for TSC2 Gene

Enhancers for TSC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H001308 1.4 ENCODE dbSUPER 134.5 -736.7 -736711 5 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 MCM3 NFYC WDR90 CRAMP1 ENSG00000261505 TELO2 UBE2I E4F1 TSC2 ENSG00000260051 JMJD8 RHOT2
GH16H001271 1.1 ENCODE 158.1 -775.6 -775639 1 PKNOX1 SIN3A FEZF1 ZNF2 ZNF302 ZNF416 SP3 REST ZNF662 ZNF592 CRAMP1 WDR90 TELO2 IFT140 ENSG00000261505 TSC2 E4F1 WDR24 ENSG00000260646 UBE2I
GH16H002147 2 FANTOM5 Ensembl ENCODE dbSUPER 48.4 +108.3 108326 17 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC CRAMP1 ENSG00000260051 ENSG00000261505 TELO2 TBL3 UNKL E4F1 TSC2 SRRM2 ZNF213-AS1
GH16H003019 1.4 ENCODE dbSUPER 51.2 +974.8 974838 5 MLX DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 ZC3H11A NFYC MEF2D ENSG00000261938 ZNF263 ZNF75A E4F1 TSC2 ERVK13-1 SRRM2 CREBBP ZNF597 SNHG19
GH16H001962 1.4 Ensembl ENCODE 47.6 -83.2 -83244 4 HNRNPUL1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ENSG00000255513 ENSG00000261505 ENSG00000260051 TELO2 E4F1 UNKL TSC2 SNHG9 CRAMP1 SRRM2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TSC2 on UCSC Golden Path with GeneCards custom track

Promoters for TSC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082434 435 1401 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ZNF207 ZNF143

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

Genomic Location for TSC2 Gene

Chromosome:
16
Start:
2,047,465 bp from pter
End:
2,088,720 bp from pter
Size:
41,256 bases
Orientation:
Plus strand

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, Lys72, posLast=438438, Lys634, posLast=914914, posLast=930930, posLast=12511251, Lys1701, and posLast=17391739
  • Modification sites at PhosphoSitePlus

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 IDA,IEA 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

CRISPR Products

miRNA for TSC2 Gene

miRTarBase miRNAs that target TSC2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TSC2
  • Applied Biological Materials Clones for TSC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 IEA,IDA 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 1977
Miconazole Approved, Investigational, Vet_approved Pharma Antagonist, Pore Blocker 3778
Sirolimus Approved, Investigational Pharma Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1977
Anti-Bacterial Agents Pharma 11831
Antibiotics, Antitubercular Pharma 7384

(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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TSC2
  • Applied Biological Materials Clones for TSC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15: - -
SP16:
SP17: -
SP18:

ExUns: 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c · 25d ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b · 29c ^ 30a · 30b · 30c ^ 31 ^ 32 ^ 33a ·
SP1: - - - -
SP2:
SP3: - - - -
SP4: -
SP5: - - - -
SP6:
SP7:
SP8: - -
SP9: - - -
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 33b ^ 34a · 34b ^ 35a · 35b ^ 36 ^ 37a · 37b · 37c ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45a · 45b
SP1: - - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - -
SP17:
SP18:

Relevant External Links for TSC2 Gene

GeneLoc Exon Structure for
TSC2
ECgene alternative splicing isoforms for
TSC2

Expression for TSC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSC2 Gene

Protein differential expression in normal tissues from HIPED for TSC2 Gene

This gene is overexpressed in Heart (11.5), Frontal cortex (9.7), and Peripheral blood mononuclear cells (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TSC2 Gene



Protein tissue co-expression partners for TSC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TSC2 Gene:

TSC2

SOURCE GeneReport for Unigene cluster for TSC2 Gene:

Hs.90303

mRNA Expression by UniProt/SwissProt for TSC2 Gene:

P49815-TSC2_HUMAN
Tissue specificity: Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta.

Evidence on tissue expression from TISSUES for TSC2 Gene

  • Nervous system(4.9)
  • Blood(4.4)
  • Liver(4.4)
  • Lung(3.1)
  • Muscle(3.1)
  • Skin(3.1)
  • Kidney(3)
  • Heart(2.5)
  • Eye(2.2)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSC2 Gene