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 series
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_001243571, the custom clone sequence may differ by one or more nucleotides
  
  
  ATGGAAGAACCACCCTTGCTTCCAGGAGAAAATATTAAAGACATGGCCAAAGATGTAACTTATATATGTC
  CATTCACTGGCGCTGTACGAGGAACTCTGACTGTCACGAATTATAGGTTATATTTCAAAAGCATGGAACG
  GGATCCCCCATTTGTTTTAGATGCTTCCCTTGGTGTGATAAATAGAGTAGAAAAAATTGGTGGTGCTTCT
  AGTCGAGGTGAAAATTCTTATGGACTAGAAACTGTGTGTAAGGATATTAGGAATTTACGATTTGCTCATA
  AACCTGAGGGGCGGACAAGAAGATCCATATTTGAGAATCTAATGAAATATGCATTTCCTGTCTCTAATAA
  CCTGCCTCTTTTTGCTTTTGAATACAAAGAAGTATTCCCTGAAAATGGGTGGAAGCTATATGACCCTCTT
  TTAGAGTATAGAAGGCAGGGAATTCCAAATGAAAGCTGGAGAATAACAAAGATAAATGAACGATATGAAC
  TTTGTGATACATACCCTGCCCTCCTGGTTGTGCCAGCAAATATTCCTGATGAAGAATTAAAGAGAGTGGC
  ATCCTTCAGATCAAGAGGCCGTATCCCAGTTTTATCATGGATTCATCCTGAAAGTCAAGCCACAATCACT
  CGGTGTAGCCAGCCCATGGTTGGAGTGAGTGGAAAGCGAAGCAAAGAAGATGAAAAATACCTTCAAGCTA
  TCATGGATTCCAATGCCCAGTCTCACAAAATCTTTATATTTGATGCCCGGCCAAGTGTTAATGCTGTTGC
  CAACAAGGCAAAGGGTGGAGGTTATGAAAGTGAAGATGCCTATCAAAATGCTGAACTAGTTTTCCTGGAT
  ATCCACAATATTCATGTTATGAGAGAATCATTACGAAAACTTAAGGAGATTGTGTACCCCAACATTGAGG
  AAACCCACTGGTTGTCTAACTTGGAATCTACTCATTGGCTAGAACATATTAAGCTTATTCTTGCAGGGGC
  TCTTAGGATTGCTGACAAGGTAGAGTCAGGGAAGACGTCTGTGGTAGTGCATTGCAGTGATGGTTGGGAT
  CGCACAGCTCAGCTCACTTCCCTTGCCATGCTCATGTTGGATGGATACTATCGAACCATCCGAGGATTTG
  AAGTCCTTGTGGAGAAAGAATGGCTAAGTTTTGGACATCGATTTCAACTAAGAGTTGGCCATGGAGATAA
  GAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGA
  CAGTTTCCTACCGCATTTGAATTCAATGAGTATTTTCTCATTACCATTTTGGACCACCTATACAGCTGCT
  TATTCGGAACATTCCTCTGTAATAGTGAACAACAGAGAGGAAAAGAGAATCTTCCTAAAAGGACTGTGTC
  ACTGTGGTCTTACATAAACAGCCAGCTGGAAGACTTCACTAATCCTCTCTATGGGAGCTATTCCAATCAT
  GTCCTTTATCCAGTAGCCAGCATGCGCCACCTAGAGCTCTGGGTGGGATATTACATAAGGTGGAATCCAC
  GGATGAAACCACAGGAACCTATTCACAACAGATACAAAGAACTTCTTGCTAAACGAGCAGAGCTTCAGAA
  AAAAGTAGAGGAACTACAGAGAGAGATTTCTAACCGATCAACCTCATCCTCAGAGAGAGCCAGCTCTCCT
  GCACAGTGTGTCACTCCTGTCCAAACTGTTGTATAA
  
  
• Restriction Sites: SgfI-MluI
• ACCN: NM_001243571
• ORF 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).

Reference Data

• RefSeq: NM_001243571.1, NP_001230500.1
• RefSeq Size: 4870
• RefSeq ORF: 1716
• Locus ID: 8898
• Protein Families: Druggable Genome, Phosphatase
• Protein Pathways: Fructose and mannose metabolism, Metabolic pathways, Riboflavin metabolism, Thiamine metabolism
• 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.