EVC2 (NM_147127) Human Untagged Clone

CAT#: SC318592

EVC2 (untagged)-Human Ellis van Creveld syndrome 2 (EVC2), transcript variant 1

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: EVC2
• Synonyms: LBN; WAD
• Vector: pCMV6 series
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_147127, the custom clone sequence may differ by one or more nucleotides
  ATGGACCCCTCGGGCTCCCGGGGGCGCCCCACGTGGGTGCTGGCCGGGGGTCTCCTGGCA
  GTGGCCCTGGCGCTGGGGGGCCGAGGCTGTCTCGGCGCCAGCTCACGTCCCCGCTGGCGC
  CCCCTCGGCGCGCAGCCACCCCGGGATCCCCAGGTGGCTCCTAGGTCTGGGCCCGGCCTG
  AGGATCCCTCCGGGGCGGAGCGGGGCGGGGCCCGAGAGCAGCACGCAGGACTTGCCCTGT
  ATGATTTGGCCCAAAGTGGAATGCTGTCACTTTAAGACTGCAGTGGAAGCACCACTTGGA
  ATGAAATTGGACAAGAAAATGGAAGTCTTCATCCCACTCTCAACTTCTGCAGCCTCTAGT
  GGGCCATGGGCTCATTCCTTATTTGCTTTTATACCCTCCTGGCCTAAGAAGAACTTATTT
  AAAAGAGAGTCTCCTATAACACACCGCCTGTATGGGGACATTTCAAGAGAAGTTCAAGGG
  ACTTCTGAAAATGGAGTAATTTTTCAGAAATGTGCACTGGTGTCTGGGTCGAGTGAAGCA
  CAGACAGCCCGCATATGGCTGCTTGTTAACAACACCAAGACAACCTCGTCAGCCAACCTC
  TCGGAGCTGCTCTTGCTGGACAGCATTGCTGGTCTCACCATTTGGGACTCTGTGGGAAAC
  AGGACCTCGGAAGGATTCCAGGCTTTTAGCAAGAAGTTTCTGCAAGTGGGAGATGCCTTT
  GCTGTCAGCTACGCAGCCACGCTCCAGGCTGGAGACCTCGGGAACGGGGAGAGCCTCAAG
  CTTCCTGCCCAACTCACCTTTCAGAGCTCGTCACGGAACAGAACACAGCTGAAAGTGCTT
  TTTTCCATAACAGCAGAAGAAAACGTAACGGTTCTGCCGCACCACGGCCTCCACGCAGCA
  GGGTTCTTCATTGCCTTCCTCCTCTCCCTTGTGCTGACCTGGGCTGCCCTCTTCCTCATG
  GTTCGCTATCAGTGTCTGAAGGGAAACATGCTCACCAGACATCGGGTTTGGCAGTATGAG
  AGCAAGCTGGAACCCTTGCCGTTCACCTCAGCTGATGGCGTGAATGAGGACCTTTCCCTT
  AACGACCAAATGATAGACATTCTGTCTTCCGAGGACCCTGGGAGCATGCTTCAAGCCTTA
  GAAGAGTTGGAGATTGCAACCCTGAATCGGGCAGATGCAGATCTGGAGGCTTGTCGAACA
  CAAATCAGCAAGGATATCATTGCCCTTCTGCTGAAAAATCTCACCAGCAGTGGCCACCTC
  TCACCCCAAGTAGAGAGAAAAATGAGTGCTGTTTTCAAAAAGCAGTTTCTATTGCTGGAA
  AATGAAATACAAGAGGAGTACGATCGGAAGATGGTGGCATTGACAGCTGAATGTGACCTG
  GAAACAAGAAAGAAGATGGAAAACCAGTACCAGAGAGAGATGATGGCAATGGAGGAAGCA
  GAAGAGTTGCTGAAACGTGCTGGTGAGAGGTCTGCTGTAGAGTGCAGCAACCTTCTGCGG
  ACCCTCCATGGCCTGGAACAGGAGCACTTGAGGAAGTCTCTCGCTTTGCAACAAGAAGAA
  GACTTTGCCAAAGCTCACAGACAGCTGGCTGTTTTCCAGAGAAATGAACTGCACAGTATC
  TTTTTTACCCAGATAAAAAGTGCTATTTTCAAAGGGGAATTGAAACCAGAGGCAGCTAAA
  ATGCTGCTGCAAAATTATTCTAAAATACAGGAGAATGTAGAAGAGTTAATGGACTTTTTC
  CAGGCTAGTAAGAGGTATCATCTAAGTAAAAGATTTGGCCACAGGGAATATCTGGTCCAG
  AACCTCCAGTCATCAGAGACCCGTGTGCAGGGCCTTCTGAGCACCGCTGCAGCCCAGCTG
  ACTCACCTCATTCAGAAGCACGAGAGAGCAGGGTACCTGGATGAAGACCAAATGGAAATG
  CTATTGGAGCGGGCTCAGACAGAAGTCTTTTCAATCAAGCAGAAGTTGGACAATGACTTA
  AAGCAGGAAAAGAAAAAGCTCCACCAAAAATTAATAACTAAGAGAAGACGAGAGTTGCTA
  CAAAAGCACAGGGAGCAGCGTAGGGAGCAGGCGTCCGTCGGCGAGGCCTTCCGAACGGTT
  GAGGATGCCGGCCAGTACCTGCACCAGAAGAGGAGCCTGATGGAGGAGCACGGTGCCACC
  CTGGAGGAGCTGCAGGAGCGTCTGGACCAGGCCGCCCTGGACGATCTCAGGACCCTGACC
  CTTTCGCTGTTTGAAAAGGCCACCGACGAGCTGCGGCGCCTGCAGAACTCAGCCATGACC
  CAGGAGCTGCTCAAGCGTGGGGTGCCCTGGCTCTTCCTGCAGCAGATCCTGGAGGAGCAC
  GGCAAGGAGATGGCTGCACGGGCCGAGCAGCTGGAGGGGGAGGAGAGGGACAGGGACCAG
  GAGGGTGTCCAGAGCGTGAGGCAGAGACTGAAGGATGACGCTCCTGAGGCCGTGACAGAG
  GAGCAGGCAGAGCTGCGACGCTGGGAGCACCTGATCTTCATGAAGCTCTGCTCCTCAGTC
  TTCTCCCTGTCTGAAGAGGAGCTGCTCAGGATGAGGCAGGAGGTCCATGGCTGCTTTGCT
  CAGATGGACAGGAGCTTGGCCCTCCCCAAGATCCGGGCCCGAGTTCTGCTGCAGCAATTT
  CAGACTGCGTGGCGAGAAGCAGAGTTCGTGAAGCTGGACCAGGCCGTGGCTGCCCCTGAG
  CTGCAGCAACAGTCCAAGGTGAGAAAGTCACGGTCCAAGAGTAAAAGCAAGGGAGAGCTT
  CTGAAGAAGTGCATCGAAGACAAAATTCACCTCTGTGAGGAACAGGCCTCTGAAGACCTG
  GTGGAAAAGGTTCGAGGTGAATTGCTGCGGGAGAGAGTGCAGCGGATGGAGGCACAGGAG
  GGAGGCTTTGCACAGTCGCTTGTTGCTCTGCAGTTCCAGAAGGCGTCCCGGGTGACCGAG
  ACTCTGTCGGCCTACACCGCCCTCCTCAGCATCCAGGACTTGCTCCTGGAAGAGCTGAGT
  GCATCTGAGATGCTGACCAAGTCGGCCTGCACACAGATCCTGGAGTCGCACAGCCGGGAG
  CTCCAGGAGTTGGAGAGGAAGCTGGAGGACCAGCTGGTGCAGCAGGAGGCAGCCCAGCAG
  CAGCAGGCCCTGGCGAGCTGGCAGCAGTGGGTGGCCGATGGGCCCGGGATTCTGAACGAA
  CCTGGGGAGGTGGATTCTGAAAGGCAGGTCTCTACTGTCCTGCACCAAGCCCTGAGCAAG
  AGCCAGACATTACTGGAGCAACATCAGCAGTGTTTGAGAGAGGAACAACAGAACAGTGTC
  GTGCTAGAAGACTTGTTGGAAAACATGGAGGCAGACACCTTTGCAACCCTGTGCAGCCAG
  GAGCTGAGACTGGCATCGTACCTGGCGAGGATGGCCATGGTGCCCGGGGCCACGCTTCGC
  CGGCTCCTGAGTGTGGTACTGCCCACAGCCTCACAGCCTCAGCTGCTGGCCCTGCTGGAT
  TCGGCCACCGAGAGACATGTGGACCACGCAGCTGAGAGCGATGGCGGAGCGGAGCAGGCC
  GACGTGGGCAGGCGGAGGAAACACCAGAGCTGGTGGCAAGCCTTAGATGGCAAACTGCGA
  GGAGATCTGATAAGCAGAGGATTAGAAAAGATGCTGTGGGCCCGCAAGAGAAAGCAGAGC
  ATATTAAAGAAGACATGTCTCCCTCTCAGAGAGAGGATGATATTCTCTGGAAAAGGAAGT
  TGGCCACACCTGTCACTGGAGCCCATTGGCGAACTGGCCCCTGTACCCATTGTAGGGGCA
  GAAACCATTGATCTATTAAACACAGGAGAGAAGCTCTTTATATTCAGAAATCCAAAGGAG
  CCAGAGATCTCACTGCACGTTCCTCCCAGGAAAAAGAAGAACTTTTTGAATGCCAAAAAG
  GCCATGAGGGCCTTGGGCATGGAC
  
• Restriction Sites: Please inquire
• ACCN: NM_147127
• ORF Size: 3927 bp
• Insert Size: 4426
• 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 TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA.

Reference Data

• RefSeq: NM_147127.3, NP_667338.3
• RefSeq Size: 4426
• RefSeq ORF: 3927
• Locus ID: 132884
• Protein Families: Transmembrane
• Gene Summary: This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
  Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).