SOX2
小结
SOX2编码一种转录因子，参与胚胎发育和细胞命运的决定。它通过高度特异性的DNA结合域作为基因转录的激活剂或抑制剂起作用。与OCT-4和Nanog一起，SOX2正向调节参与白血病抑制因子信号通路中的多能性因子的转录。SOX2可通过促进致癌信号和维持肿瘤干细胞与癌症的发展有关。SOX2已被证明在乳腺癌，前列腺癌，胰腺癌和宫颈癌中可促进细胞增殖；并在前列腺癌，胃癌和非小细胞肺癌中起到逃避凋亡信号的作用。SOX2也与这些癌症转移潜能的增加有关。SOX2扩增在几种癌症类型中观察到，包括胶质母细胞瘤、小细胞肺癌和多种形式的鳞状细胞癌。SOX2的杂合突变与发育障碍相关，如anophthalmia-esophagel-genital（AEG）综合征和综合征性小眼球（一种结构性眼畸形）。
SOX2 encodes a transcriptional factor essential to embryonic stem cell development and the determination of cell fate. It functions as an activator or suppressor of gene transcription through a highly specific DNA binding (high-mobility group) domain. Together with Oct-4 and Nanog, Sox2 positive regulates transcription of pluripotency factors involved in the Leukemia inhibitory factor signaling pathway. SOX2 has recently been implicated in cancer development, by promoting oncogenic signaling and maintaining cancer stem cells. It has been shown to promote cellular proliferation in breast, prostate, pancreatic and cervical cancers; and to evade apoptotic signaling in prostate, gastric cancer and non small cell lung cancer. SOX2 has also been associated with an increased in the metastatic potential of these cancers. SOX2 amplification is observed in several cancer types including glioblastoma, small-cell lung cancer and many forms of squamous cell carcinoma. Its heterozygous mutations have been associated with developmental disorders, such as aanophthalmia-esophagel-genital (AEG) syndrome and syndromic microphthalmia, a structural eye malformation.