HGNC Approved Gene Symbol: MAGEB6
Cytogenetic location: Xp21.3 Genomic coordinates (GRCh38): X:26,192,440-26,195,646 (from NCBI)
Genes of the MAGE family (see 300016) direct the expression of tumor antigens that are recognized on human melanomas by autologous cytolytic T lymphocytes. By database searching with the sequence of MAGEC2 (300468) as query, Lucas et al. (2000) cloned 3 members of the MAGE gene family: MAGEB5 (300466), MAGEB6, and MAGEC3 (300469). The deduced MAGEB6 protein contains 407 amino acids and shares 41 to 46% sequence homology with the 4 previously identified MAGEB proteins (e.g., MAGEB1, 300097). RT-PCR analysis of human normal and tumor tissues demonstrated expression of MAGEB6 in testis and in 4 of 5 seminomas, 1 of 10 cutaneous melanomas, 1 of 10 esophageal carcinomas, and 1 of 16 nonsmall-cell lung carcinomas.
By genomic sequence analysis, Lucas et al. (2000) mapped the MAGEB5 and MAGEB6 genes to chromosome Xp22, approximately 4.2 Mb from the previously identified cluster of MAGEB genes.
See 300016 for a discussion of the high frequency of genes on the X chromosome encoding proteins with the MAGE domain as well as other cancer-testis antigen genes (Ross et al., 2005).
Lucas et al. (2000) found 3 direct tandem repeats of 126 nucleotides in the ORF of the MAGEB6 gene, starting 162 nucleotides after the first start codon. By PCR amplification of genomic DNA of different patients, they determined that variation in repeat numbers produced allelic polymorphism.
Lucas, S., De Plaen, E., Boon, T. MAGE-B5, MAGE-B6, MAGE-C2, and MAGE-C3: four new members of the MAGE family with tumor-specific expression. Int. J. Cancer 87: 55-60, 2000. [PubMed: 10861452]
Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., Frankish, A., Lovell, F. L., and 270 others. The DNA sequence of the human X chromosome. Nature 434: 325-337, 2005. [PubMed: 15772651] [Full Text: https://doi.org/10.1038/nature03440]