MAGEA2

Description

The MAGEA2 (MAGE family member A2) is a protein-coding gene located on chromosome X.

MAGEA2 is a protein encoded by the MAGEA2 gene in humans. It belongs to the MAGEA gene family, which encodes proteins with significant sequence similarity. The MAGEA genes are clustered on chromosome Xq28 and have been implicated in certain hereditary disorders, such as dyskeratosis congenita. The MAGEA2 gene has two identical copies at different locations in the genome. Different versions of the gene‘s transcript have been identified, all encoding the same protein.

MAGEA2 reduces the transactivation function of p53/TP53 by recruiting HDAC3 to p53/TP53 transcription sites. It also represses the activity of p73/TP73. MAGEA2 is proposed to enhance the ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro, it enhances the ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination by TRIM28, potentially in the presence of the Ubl-conjugating enzyme UBE2H. MAGEA2 is thought to act through the recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. MAGEA2 may play a role in embryonal development, tumor transformation, or aspects of tumor progression. In vitro, it promotes cell viability in melanoma cell lines. MAGEA2 is an antigen recognized on melanoma by autologous cytolytic T-lymphocytes. It negatively regulates the acetylation and sumoylation of PML and represses PML-induced p53/TP53 acetylation and activation.

MAGEA2 is also known as CT1.2, MAGE2, MAGEA2A.

Associated Diseases

WES Whole Exome Sequencing