Tuberin (TSC2) (NM_000548) Human Mutant ORF Clone

CAT#: RC402349

TSC2 Mutant (E450X), Myc-DDK-tagged ORF clone of Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1 as transfection-ready DNA

Specifications

Product Data

• Mutation Description: E450X
• Affected Codon#: 450
• Affected NT#: 1348
• Tag: Myc-DDK
• Effect: Tuberous slerosis
• Symbol: TSC2
• Synonyms: LAM; PPP1R160; TSC4
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Vector: pCMV6-Entry
• ACCN: NM_000548
• ORF Size: 1347 bp
• Sequence Data:
  ORF Nucleotide Sequence

  >RC402349 representing NM_000548
  Red=Cloning site Blue=ORF Green=Tags(s)
  
  TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC
  GCCGCGATCGCC
  
  ATGGCCAAACCAACAAGCAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATTCTGTTGGGACTGGGAACAC
  CGAGGCCAAATCCCAGGTCTGCAGAGGGTAAACAGACGGAGTTTATCATCACCGCGGAAATACTGAGAGA
  ACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACC
  AAGAAATTTGAAGAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGC
  CGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGGCGAGCGTTTGGG
  GGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTG
  GAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGCTGACTTTG
  TCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAA
  TAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGATGATCTGTCTGCTGTGCGTCCGGACCGCG
  TCCTCTGTGGACATAGAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTG
  AGAGCCTCCCGCTGTTCATCGTTACCCTCTGTCGCACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTG
  GAAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATG
  GAGGACAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAGGAGCCGTGTTTTTTGTGGGCATGGCTCTCT
  GGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGCCAT
  GGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGG
  AAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGA
  CCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCA
  GAACGAGTTCCACGGGTCTCAGGAGAGATACTTTGAACTGGTGGAGAGATGTGCGGACCAGAGGCCTGAG
  TCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGA
  ACCTGCAGGCGCTGATG
  
  AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC
  TGGATTACAAGGATGACGACGA TAAGGTTTAA
  Protein Sequence

  >RC402349 representing NM_000548
  Red=Cloning site Green=Tags(s)
  
  MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKT
  KKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERL
  EVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTA
  SSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLM
  EDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYR
  KELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPE
  SSLLNLISYRAQSIHPAKDGWIQNLQALM
  
  SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
• Restriction Sites: SgfI-XhoI Cloning Scheme for this gene
• OTI Disclaimer: The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
• OTI Annotation: This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
• Product Components: The ORF clone is ion-exchange column purified, transfection-ready dried plasmid DNA, and shipped with 2 vector sequencing primers.

Reference Data

• RefSeq: NP_000539
• RefSeq Size: 1347 bp
• RefSeq ORF: 5424 bp
• Locus ID: 7249
• Cytogenetics: 16p13.3
• Domains: Rap_GAP, Tuberin
• Protein Families: Druggable Genome
• Protein Pathways: Insulin signaling pathway, mTOR signaling pathway, p53 signaling pathway
• MW: 49.4 kDa
• Gene Summary: '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]'