MDM2(MDM2 proto-oncogene),癌症关联基因,基因ID:4193,这个基因编码一个核定位的E3泛素连接酶。编码蛋白可通过靶向肿瘤抑制蛋白(如p53)促进蛋白酶体降解形成肿瘤。这个基因本身是由p53转录调节的。这种基因座的过度表达或扩增可在多种不同的癌症中检测到。在2号染色体上有一个这个基因的假基因。选择性剪接导致大量转录变异,其中许多可能只在肿瘤细胞中表达。This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells.关联癌症:癌症,食道鳞状细胞癌,头颈癌,脂肪肉瘤,恶性胸膜间皮瘤。关联化疗药物:MK-8242,派姆单抗,帕博利珠单抗,纳武单抗,纳武利尤单抗,伊匹单抗,伊匹木单抗 ,Y药,CTLA4单抗。