Alternative titles; symbols
HGNC Approved Gene Symbol: EVI2A
Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:31,316,410-31,321,622 (from NCBI)
O'Connell et al. (1989, 1990) demonstrated by genetic linkage and by somatic cell hybrid and pulsed field gel electrophoresis that EVI2 (EVI2A), the human homolog of the mouse myeloid leukemia-associated gene Evi2, maps between 2 breakpoints on the proximal part of 17q that define the neurofibromatosis I region (162200).
Cawthon et al. (1990) isolated EVI2A cDNAs from human bone marrow and frontal cortex cDNA libraries. The deduced 232-amino acid protein is predicted to be a glycosylated protein with a single membrane-spanning domain, a leucine zipper motif, and a cytoplasmic domain. There is a high degree of conservation between the human and mouse EVI2A proteins.
Viskochil et al. (1991) reported that 3 genes, EVI2A, OMGP (164345), and EVI2B, are embedded within an intron of NF1 on chromosome 17q11.2. All 3 genes had the same transcriptional orientation, which was opposite to that of the NF1 gene.
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. Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics 7: 555-565, 1990. [PubMed: 2117566] [Full Text: https://doi.org/10.1016/0888-7543(90)90199-5]
O'Connell, P., Buchberg, A., Cawthon, R. M., Culver, M., Stevens, J., Viskochil, D., Carey, J. C., Fountain, J., Wallace, M., Jenkins, N., Copeland, N., Collins, F. S., White, R. The human homologue of the murine Evi-2 oncogene lies between von Recklinghausen NF translocation breakpoints. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A210 only, 1989.
O'Connell, P., Viskochil, D., Buchberg, A. M., Fountain, J., Cawthon, R. M., Culver, M., Stevens, J., Rich, D. C., Ledbetter, D. H., Wallace, M., Carey, J. C., Jenkins, N. A., Copeland, N. G., Collins, F. S., White, R. The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. Genomics 7: 547-554, 1990. [PubMed: 2117565] [Full Text: https://doi.org/10.1016/0888-7543(90)90198-4]
Viskochil, D., Cawthon, R., O'Connell, P., Xu, G. F., Stevens, J., Culver, M., Carey, J., White, R. The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene. Molec. Cell. Biol. 11: 906-912, 1991. [PubMed: 1899288] [Full Text: https://doi.org/10.1128/mcb.11.2.906-912.1991]