NF2 (NM_000268) Human Mutant ORF Clone

CAT#: RC401916

NF2 Mutant (R57X), Myc-DDK-tagged ORF clone of Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1 as transfection-ready DNA

Specifications

Product Data

• Mutation Description: R57X
• Affected Codon#: 57
• Affected NT#: 169
• Tag: Myc-DDK
• Effect: Neurofibromosis 2
• Symbol: NF2
• Synonyms: ACN; BANF; SCH
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Vector: pCMV6-Entry
• ACCN: NM_000268
• ORF Size: 168 bp
• Sequence Data:
  ORF Nucleotide Sequence

  >RC401916 representing NM_000268
  Red=Cloning site Blue=ORF Green=Tags(s)
  
  TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC
  GCCGCGATCGCC
  
  ATGGCCGGGGCCATCGCTTCCCGCATGAGCTTCAGCTCTCTCAAGAGGAAGCAACCCAAGACGTTCACCG
  TGAGGATCGTCACCATGGACGCCGAGATGGAGTTCAATTGCGAGATGAAGTGGAAAGGGAAGGACCTCTT
  TGATTTGGTGTGCCGGACTCTGGGGCTC
  
  AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC
  TGGATTACAAGGATGACGACGA TAAGGTTTAA
  Protein Sequence

  >RC401916 representing NM_000268
  Red=Cloning site Green=Tags(s)
  
  MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEMKWKGKDLFDLVCRTLGL
  
  SGPTRTRRLEQKLISEEDLAANDILDYKDDDDKV
• Restriction Sites: SgfI-MluI Cloning Scheme for this gene
• OTI Disclaimer: Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery.
  
  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_000259
• RefSeq Size: 168 bp
• RefSeq ORF: 1788 bp
• Locus ID: 4771
• Cytogenetics: 22q12.2
• Domains: B41, ERM
• Protein Families: Druggable Genome
• MW: 6.2 kDa
• Gene Summary: 'This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]'