这个无内含子基因编码sry相关的hmg-box(sox)转录因子家族的一个成员,该家族参与胚胎发育的调控和细胞命运的决定。这种基因的产物是维持中枢神经系统干细胞所必需的,同时也调节着胃中的基因表达。该基因突变与视神经发育不全和小眼畸形(一种严重的眼部结构畸形)有关。该基因位于另一个名为sox2重叠转录(sox2ot)的基因的内含子内。[由RefSeq提供,2008年7月]
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]

基因名:SOX2
别名:ANOP3,MCOPS3
基因ID:6657
Chromosome:
(GRCh37)
3 Start: 181429712 End: 181432224 Strand: 
信号通路: 肿瘤干细胞 
SOX2 基因突变与药物

相关基因检测