MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2

Alternative titles; symbols

• DSS/AHC CRITICAL INTERVAL GENE, FROM MAGE SUPERFAMILY, 6; DAM6

HGNC Approved Gene Symbol: MAGEB2

Cytogenetic location: Xp21.2 Genomic coordinates (GRCh38): X:30,215,562-30,220,088 (from NCBI)

▼ Cloning and Expression
Bardoni et al. (1994) identified a locus symbolized DSS (for 'dosage-sensitive sex reversal'; 300018), which when present in double dosage results in male-to-female sex reversal. They mapped the DSS gene to a 160-kb region of Xp21. By cDNA selection, Dabovic et al. (1995) isolated 2 new genes from the DSS critical region. These genes, called DAM6 and DAM10 (MAGEB1; 300097) (for 'DSS/AHC critical interval genes, belonging to the MAGE superfamily'), are expressed in adult testis and lung tumors, are 82% identical, and belong to a family of genes clustered within 50 kb of Xp21.

Lurquin et al. (1997) found that the predicted MAGEB2 protein has 313 amino acids.

▼ Gene Structure
Lurquin et al. (1997) determined that the MAGEB2 gene contains 2 exons, with the coding region contained within the second exon.

▼ Gene Function
By RT-PCR analysis, Lurquin et al. (1997) observed that MAGEB2 is expressed in testis and placenta, and in a significant fraction of tumors of various histologic types. Expression could be induced by a demethylating agent, suggesting that the activation of MAGEB2 in tumors results from a demethylation process.

▼ Mapping
Lurquin et al. (1997) reported that MAGEB2 is located within a cluster of 4 MAGE-related genes in Xp21.3. See MAGEB1.

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).