Alternative titles; symbols
HGNC Approved Gene Symbol: EVI2B
Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:31,303,770-31,314,054 (from NCBI)
Two translocation breakpoints that interrupt the NF1 gene (613113) in patients with neurofibromatosis I (162200) flank a 60-kb segment of DNA that contains EVI2A (158380). Cawthon et al. (1991) described a second locus, EVI2B, also located between the 2 NF1 translocation breakpoints. Full-length cDNAs from the EVI2B locus detected a 2.1-kb transcript in bone marrow, peripheral blood mononuclear cells, and fibroblasts. Sequencing studies predicted an EVI2B protein of 448 amino acids that is proline-rich and contains an N-terminal signal peptide, an extracellular domain with 4 potential glycosylation sites, a single hydrophobic transmembrane domain, and a cytoplasmic hydrophilic domain.
Cawthon et al. (1991) determined that the EVI2B locus lies within the same intron of the NF1 gene as EVI2A and contains a 57-bp 5-prime exon that is noncoding, an 8-kb intron, and a 2,078-bp 3-prime exon that includes the entire open reading frame. EVI2B is transcribed in the same direction as EVI2A; its 5-prime exon lies only 4 kb downstream from the 3-prime exon of the EVI2A locus. In the mouse, the 5-prime exon of the homologous gene, Evi2b, lies approximately 2.8 kb from the 3-prime end of Evi2a, in the midst of a cluster of viral integration sites identified in retrovirus-induced myeloid tumors; thus, EVI2B may function as an oncogene in these tumors.
Viskochil et al. (1991) reported that 3 genes, EVI2A, EVI2B, and OMGP (164345), 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., Andersen, L. B., Buchberg, A. M., Xu, G., O'Connell, P., Viskochil, D., Weiss, R. B., Wallace, M. R., Marchuk, D. A., Culver, M., Stevens, J., Jenkins, N. A., Copeland, N. G., Collins, F. S., White, R. cDNA sequence and genomic structure of EVI2B, a gene lying within an intron of the neurofibromatosis type 1 gene. Genomics 9: 446-460, 1991. [PubMed: 1903357] [Full Text: https://doi.org/10.1016/0888-7543(91)90410-g]
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]