NF2 (NM_000268) Human Mutant ORF Clone

Specifications

Product Data
Product Name	NF2 (NM_000268) Human Mutant ORF Clone
Mutation Description	Y153X
Affected Codon#	153
Affected NT#	459
Nucleotide Mutation	NF2 Mutant (Y153X), Myc-DDK-tagged ORF clone of Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1 as transfection-ready DNA
Effect	Neurofibromosis 2
Synonyms	ACN; BANF; merlin-1; SCH
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_000268
ORF Size	456 bp
Sequence Data	ORF Nucleotide Sequence (showhide) >RC401932 representing NM_000268 Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCCGCGATCGCC ATGGCCGGGGCCATCGCTTCCCGCATGAGCTTCAGCTCTCTCAAGAGGAAGCAACCCAAGACGTTCACCG TGAGGATCGTCACCATGGACGCCGAGATGGAGTTCAATTGCGAGATGAAGTGGAAAGGGAAGGACCTCTT TGATTTGGTGTGCCGGACTCTGGGGCTCCGAGAAACCTGGTTCTTTGGACTGCAGTACACAATCAAGGAC ACAGTGGCCTGGCTCAAAATGGACAAGAAGGTACTGGATCATGATGTTTCAAAGGAAGAACCAGTCACCT TTCACTTCTTGGCCAAATTTTATCCTGAGAATGCTGAAGAGGAGCTGGTTCAGGAGATCACACAACATTT ATTCTTCTTACAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTC CTGGCTTCTTACGCCGTCCAGGCCAAGTATGGTGAC AGCGGACCGACGCGTACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCC TGGATTACAAGGATGACGACGA TAAGGTTTAA Protein Sequence (showhide) >RC401932 representing NM_000268 Red=Cloning site Green=Tags(s) MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFNCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKD TVAWLKMDKKVLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVL LASYAVQAKYGD 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.
Reference Data
RefSeq	NP_000259
RefSeq Size	456 bp
RefSeq ORF	1788 bp
Locus ID	4771
Domains	B41, ERM
Protein Families	Druggable Genome
MW	16.7 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]

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