基因注释：SOX2
官方信息
官方名称：SRY-box transcription factor 2
功能摘要：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].
作为靶基因的剪接因子
- RBFOX2 综合评分: 0.362 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- TIA1 综合评分: 0.250 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- MSI1 综合评分: 0.150 · 证据 1 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- Srsf3 综合评分: 0.150 · 证据 1 条
- Srsf4 综合评分: 0.150 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- ELAVL3 综合评分: 0.100 · 证据 1 条
- Larp7 综合评分: 0.100 · 证据 1 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- Rbpms 综合评分: 0.100 · 证据 1 条
关联疾病
该基因暂无关联疾病记录