HGNC Approved Gene Symbol: BCL7B
Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,536,356-73,557,690 (from NCBI)
Meng et al. (1998) constructed a physical map encompassing the 1.5-Mb region of chromosome 7q11.23 that is commonly deleted in Williams-Beuren syndrome (WBS; 194050). They identified 3 genes within this region, including BCL7B, which contains 6 exons. By EST database searching, screening of a liver cDNA library, and sequencing, they cloned a BCL7B cDNA encoding a deduced 202-amino acid protein that shows high homology to the BCL7A gene (601406), which was cloned from a complex chromosomal translocation in Burkitt lymphoma cell lines. BCL7B is highly conserved from C. elegans to human, suggesting that it has been conserved through evolution.
Jadayel et al. (1998) also cloned the BCL7B gene as well as the BCL7C (605847) gene. They determined that both encode proteins sharing 90% identity with the N-terminal 51 amino acids of BCL7A and suggested that the 3 genes are members of an evolutionarily conserved gene family.
Jadayel, D. M., Osborne, L. R., Coignet, L. J. A., Zani, V. J., Tsui, L.-C., Scherer, S. W., Dyer, M. J. S. The BCL7 gene family: deletion of BCL7B in Williams syndrome. Gene 224: 35-44, 1998. [PubMed: 9931421] [Full Text: https://doi.org/10.1016/s0378-1119(98)00514-9]
Meng, X., Lu, X., Li, Z., Green, E. D., Massa, H., Trask, B. J., Morris, C. A., Keating, M. T. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Hum. Genet. 103: 590-599, 1998. [PubMed: 9860302] [Full Text: https://doi.org/10.1007/s004390050874]