EVC2 (NM_147127) Human Untagged Clone

SKU SC318592

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

Product Data

• Type: Human Untagged Clone
• Target 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
• Insert Size: 4426 bp
• 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.
• 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 Method: 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.
• Note: Plasmids are not sterile. For experiments where strict sterility is required, filtration with 0.22um filter is required.
• Shipping: Ambient

Reference Data

• RefSeq: NM_147127.3, NP_667338.3
• RefSeq Size: 4426 bp
• RefSeq ORF: 3927 bp
• Locus ID: 132884
• UniProt ID: Q86UK5
• Cytogenetics: 4p16.2
• Protein Families: Transmembrane
• 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).