≡

Tuberous Sclerosis Protein 2 (TSC2)

[Edit]

LAM; TSC4; Tuberin

Tuberous Sclerosis Protein 2 (TSC2)
CCC F852
HGNC 12363
MGI 102548
PubMed 12957289
RGD 3908
UniProt P49815
Wiki TSC2
Tuberous Sclerosis Protein 2associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms of the protein.
One gene, designated TSC2, was interrupted by all 5 PFGE deletions, and closer examination revealed several intragenic mutations, including 1 de novo deletion. In this case, Northern blot analysis identified a shortened transcript, while reduced expression was observed in another TSC family, confirming TSC2 as the chromosome 16 TSC gene. The 5.5-kb TSC2 transcript was found to be widely expressed, and its protein product, designated tuberin, to have a region of homology to the GTPase-activating protein GAP3.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Tuberous Sclerosis Protein 2 (TSC2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Tuberous Sclerosis Protein 2 (TSC2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Tuberous Sclerosis Protein 2 (TSC2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Tuberous Sclerosis Protein 2 (TSC2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Tuberous Sclerosis Protein 2 (TSC2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Tuberous Sclerosis Protein 2 (TSC2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Tuberous Sclerosis Protein 2 (TSC2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Tuberous Sclerosis Protein 2 (TSC2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Tuberous Sclerosis Protein 2 (TSC2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Tuberous Sclerosis Protein 2 (TSC2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Tuberous Sclerosis Protein 2 (TSC2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Tuberous Sclerosis Protein 2 (TSC2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Tuberous Sclerosis Protein 2 (TSC2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Tuberous Sclerosis Protein 2 (TSC2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Tuberous Sclerosis Protein 2 (TSC2) ELISA Kit Customized Service Offer
  1. "Identification and characterization of the tuberous sclerosis gene on chromosome 16." Cell 75:1305-1315(1993) [PubMed] [Europe PMC] [Abstract]
  2. "Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues."Genomics 27:475-480(1995) [PubMed] [Europe PMC] [Abstract]
  3. "Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish."Hum. Mol. Genet. 5:131-137(1996) [PubMed] [Europe PMC] [Abstract]
  4. "Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism." Nat. Commun. 5:3650-3650(2014) [PubMed] [Europe PMC] [Abstract]
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The sequence and analysis of duplication-rich human chromosome 16." Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes."Gene 222:287-295(1998) [PubMed] [Europe PMC] [Abstract]
  9. "The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis."J. Biol. Chem. 272:6097-6100(1997) [PubMed] [Europe PMC] [Abstract]
  10. "Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products."Hum. Mol. Genet. 7:1053-1057(1998) [PubMed] [Europe PMC] [Abstract]
  11. "Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin."J. Biol. Chem. 274:35647-35652(1999) [PubMed] [Europe PMC] [Abstract]
  12. "Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway."Mol. Cell 10:151-162(2002) [PubMed] [Europe PMC] [Abstract]
  13. "Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling."Proc. Natl. Acad. Sci. U.S.A. 99:13571-13576(2002) [PubMed] [Europe PMC] [Abstract]
  14. "TSC2 mediates cellular energy response to control cell growth and survival."Cell 115:577-590(2003) [PubMed] [Europe PMC] [Abstract]
  15. "Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity."Mol. Cell. Biol. 24:7965-7975(2004) [PubMed] [Europe PMC] [Abstract]
  16. "Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase."Proc. Natl. Acad. Sci. U.S.A. 101:13489-13494(2004) [PubMed] [Europe PMC] [Abstract]
  17. "Phosphorylation and binding partner analysis of the TSC1-TSC2 complex."Biochem. Biophys. Res. Commun. 333:818-826(2005) [PubMed] [Europe PMC] [Abstract]
  18. "Regulation of microtubule-dependent protein transport by the TSC2/mammalian target of rapamycin pathway."Cancer Res. 66:5258-5269(2006) [PubMed] [Europe PMC] [Abstract]
  19. "TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase."J. Biol. Chem. 281:8313-8316(2006) [PubMed] [Europe PMC] [Abstract]
  20. "Human cytomegalovirus protein UL38 inhibits host cell stress responses by antagonizing the tuberous sclerosis protein complex."Cell Host Microbe 3:253-262(2008) [PubMed] [Europe PMC] [Abstract]
  21. "Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling."Cell. Signal. 20:1084-1091(2008) [PubMed] [Europe PMC] [Abstract]
  22. "WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase."Genes Dev. 22:866-871(2008) [PubMed] [Europe PMC] [Abstract]
  23. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
  24. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  25. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  26. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  27. "Peptide combinatorial libraries identify TSC2 as a death-associated protein kinase (DAPK) death domain-binding protein and reveal a stimulatory role for DAPK in mTORC1 signaling."J. Biol. Chem. 284:334-344(2009) [PubMed] [Europe PMC] [Abstract]
  28. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  29. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  30. "ARD1 stabilization of TSC2 suppresses tumorigenesis through the mTOR signaling pathway." Sci. Signal. 3:RA9-RA9(2010) [PubMed] [Europe PMC] [Abstract]
  31. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  32. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  33. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  34. "Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients."Hum. Mol. Genet. 5:249-256(1996) [PubMed] [Europe PMC] [Abstract]
  35. "The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis."Hum. Mol. Genet. 6:1991-1996(1997) [PubMed] [Europe PMC] [Abstract]
  36. "Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients."Am. J. Hum. Genet. 62:286-294(1998) [PubMed] [Europe PMC] [Abstract]
  37. "Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis."Hum. Mutat. 12:408-416(1998) [PubMed] [Europe PMC] [Abstract]
  38. "Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene."Neurogenetics 1:267-272(1998) [PubMed] [Europe PMC] [Abstract]
  39. "Comprehensive mutation analysis of TSC1 and TSC2- and phenotypic correlations in 150 families with tuberous sclerosis."Am. J. Hum. Genet. 64:1305-1315(1999) [PubMed] [Europe PMC] [Abstract]
  40. "Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst."Am. J. Med. Genet. 82:368-370(1999) [PubMed] [Europe PMC] [Abstract]
  41. "Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2."Ann. Hum. Genet. 63:383-391(1999) [PubMed] [Europe PMC] [Abstract]
  42. "Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis."Hum. Mutat. 14:412-422(1999) [PubMed] [Europe PMC] [Abstract]
  43. "Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex."J. Hum. Genet. 44:391-396(1999) [PubMed] [Europe PMC] [Abstract]
  44. "Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations."Am. J. Med. Genet. 90:123-126(2000) [PubMed] [Europe PMC] [Abstract]
  45. "Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis."Proc. Natl. Acad. Sci. U.S.A. 97:6085-6090(2000) [PubMed] [Europe PMC] [Abstract]
  46. "Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation."Hum. Mutat. 23:397-397(2004) [PubMed] [Europe PMC] [Abstract]
  47. "Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex."Acta Neurol. Scand. 111:54-63(2005) [PubMed] [Europe PMC] [Abstract]