ARID2是抑癌基因,编码蛋白是PBAF复合物中的一个亚基,是SWI/SNF复合物的一个亚型,它通过调节染色质结构促进核受体介导的配体依赖性转录激活,使DNA更容易接近。 ARID2含有保守的富含AT的DNA相互作用结构域,并且被认为赋予PBAF复合物特异性。 在肿瘤中发现的大多数ARID2突变是失活的, ARID2突变最常见于肝细胞癌(HCC),通常导致无活性的截短蛋白; ARID2突变也见于黑素瘤和非小细胞肺癌(NSCLC),并且与杂合性缺失(LOH)有关。
ARID2, also known as BAF200, is a subunit in the PBAF complex, a subtype of the SWI/SNF complex, which facilitates nuclear receptor-mediated, ligand-dependent transcriptional activation by modulating chromatin structure to make DNA more accessible. ARID2 contains a conserved AT-rich DNA interaction domain and is thought to confer specificity to the PBAF complex. Most ARID2 mutations found in tumors are inactivating, suggesting ARID2 is a tumor suppressor gene. ARID2 mutations are most commonly found in hepatocellular carcinoma (HCC), where they often lead to an inactive, truncated protein. ARID2 mutations are also found in melanoma and non-small cell lung cancer (NSCLC), and are associated with loss of heterozygosity (LOH).
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