MTMR2 (NM_001243571) Human Untagged Clone

CAT#: SC330148

MTMR2 (untagged) - Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 4

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: MTMR2
• Synonyms: CMT4B; CMT4B1
• Vector: pCMV6-Entry
• Sequence Data:
  Fully Sequenced ORF

  >SC330148 representing NM_001243571.
  Blue=Insert sequence Red=Cloning site Green=Tag(s)
  
  ATGGAAGAACCACCCTTGCTTCCAGGAGAAAATATTAAAGACATGGCCAAAGATGTAACTTATATATGT
  CCATTCACTGGCGCTGTACGAGGAACTCTGACTGTCACGAATTATAGGTTATATTTCAAAAGCATGGAA
  CGGGATCCCCCATTTGTTTTAGATGCTTCCCTTGGTGTGATAAATAGAGTAGAAAAAATTGGTGGTGCT
  TCTAGTCGAGGTGAAAATTCTTATGGACTAGAAACTGTGTGTAAGGATATTAGGAATTTACGATTTGCT
  CATAAACCTGAGGGGCGGACAAGAAGATCCATATTTGAGAATCTAATGAAATATGCATTTCCTGTCTCT
  AATAACCTGCCTCTTTTTGCTTTTGAATACAAAGAAGTATTCCCTGAAAATGGGTGGAAGCTATATGAC
  CCTCTTTTAGAGTATAGAAGGCAGGGAATTCCAAATGAAAGCTGGAGAATAACAAAGATAAATGAACGA
  TATGAACTTTGTGATACATACCCTGCCCTCCTGGTTGTGCCAGCAAATATTCCTGATGAAGAATTAAAG
  AGAGTGGCATCCTTCAGATCAAGAGGCCGTATCCCAGTTTTATCATGGATTCATCCTGAAAGTCAAGCC
  ACAATCACTCGGTGTAGCCAGCCCATGGTTGGAGTGAGTGGAAAGCGAAGCAAAGAAGATGAAAAATAC
  CTTCAAGCTATCATGGATTCCAATGCCCAGTCTCACAAAATCTTTATATTTGATGCCCGGCCAAGTGTT
  AATGCTGTTGCCAACAAGGCAAAGGGTGGAGGTTATGAAAGTGAAGATGCCTATCAAAATGCTGAACTA
  GTTTTCCTGGATATCCACAATATTCATGTTATGAGAGAATCATTACGAAAACTTAAGGAGATTGTGTAC
  CCCAACATTGAGGAAACCCACTGGTTGTCTAACTTGGAATCTACTCATTGGCTAGAACATATTAAGCTT
  ATTCTTGCAGGGGCTCTTAGGATTGCTGACAAGGTAGAGTCAGGGAAGACGTCTGTGGTAGTGCATTGC
  AGTGATGGTTGGGATCGCACAGCTCAGCTCACTTCCCTTGCCATGCTCATGTTGGATGGATACTATCGA
  ACCATCCGAGGATTTGAAGTCCTTGTGGAGAAAGAATGGCTAAGTTTTGGACATCGATTTCAACTAAGA
  GTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGT
  GTCTGGCAGATGACAAGACAGTTTCCTACCGCATTTGAATTCAATGAGTATTTTCTCATTACCATTTTG
  GACCACCTATACAGCTGCTTATTCGGAACATTCCTCTGTAATAGTGAACAACAGAGAGGAAAAGAGAAT
  CTTCCTAAAAGGACTGTGTCACTGTGGTCTTACATAAACAGCCAGCTGGAAGACTTCACTAATCCTCTC
  TATGGGAGCTATTCCAATCATGTCCTTTATCCAGTAGCCAGCATGCGCCACCTAGAGCTCTGGGTGGGA
  TATTACATAAGGTGGAATCCACGGATGAAACCACAGGAACCTATTCACAACAGATACAAAGAACTTCTT
  GCTAAACGAGCAGAGCTTCAGAAAAAAGTAGAGGAACTACAGAGAGAGATTTCTAACCGATCAACCTCA
  TCCTCAGAGAGAGCCAGCTCTCCTGCACAGTGTGTCACTCCTGTCCAAACTGTTGTATAA
  
• Restriction Sites: SgfI-MluI
• ACCN: NM_001243571
• Insert Size: 1716 bp
• OTI Disclaimer: Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
• Product Components: The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water).
• Reconstitution: 1. Centrifuge at 5,000xg for 5min.
  2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA.
  3. Close the tube and incubate for 10 minutes at room temperature.
  4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom.
  5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C.

Reference Data

• RefSeq: NM_001243571.1
• RefSeq Size: 4870 bp
• RefSeq ORF: 1716 bp
• Locus ID: 8898
• UniProt ID: Q13614
• Cytogenetics: 11q21
• Protein Families: Druggable Genome, Phosphatase
• Protein Pathways: Fructose and mannose metabolism, Metabolic pathways, Riboflavin metabolism, Thiamine metabolism
• MW: 66 kDa
• Gene Summary: This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
  Transcript Variant: This variant (4) includes three additional internal exons in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1, resulting in an isoform (2) that is shorter at the N-terminus, compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.