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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

EVI2A  -  ecotropic viral integration site 2A

Homo sapiens

Synonyms: EVDA, EVI-2A, EVI2, Ecotropic viral integration site 2A protein homolog, Protein EVI2A
 
 
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High impact information on EVI2A

  • EVI2A lies within an intron of the NF1 gene and is transcribed from telomere toward centromere, opposite to the direction of transcription of the NF1 gene [1].
  • Sequencing studies predict an EVI2 protein of 232 amino acids that contains an N-terminal signal peptide, an extracellular domain with five potential glycosylation sites, a single hydrophobic transmembrane domain with a leucine zipper, and a hydrophilic cytoplasmic domain [2].
  • Two rare mutations were found in the EVI2A gene, one resulting in an arginine substituting for a glutamine (one control and one patient), the other in the replacement of a glycine with serine (one control only) [3].

References

  1. cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene. Cawthon, R.M., Andersen, L.B., Buchberg, A.M., Xu, G.F., O'Connell, P., Viskochil, D., Weiss, R.B., Wallace, M.R., Marchuk, D.A., Culver, M. Genomics (1991) [Pubmed]
  2. Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts. Cawthon, R.M., O'Connell, P., Buchberg, A.M., Viskochil, D., Weiss, R.B., Culver, M., Stevens, J., Jenkins, N.A., Copeland, N.G., White, R. Genomics (1990) [Pubmed]
  3. Single strand conformation analysis of two genes contained within the first intron of the neurofibromatosis type I gene in patients with multiple sclerosis. Hinks, L.J., Price, S.E., Mason, C.R., Thompson, R.J. Neuropathol. Appl. Neurobiol. (1995) [Pubmed]
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