這個無內含子基因編碼sry相關的hmg-box（sox）轉錄因子家族的一個成員，該家族參與胚胎發育的調控和細胞命運的決定。這種基因的產物是維持中樞神經系統干細胞所必需的，同時也調節著胃中的基因表達。該基因突變與視神經發育不全和小眼畸形（一種嚴重的眼部結構畸形）有關。該基因位于另一個名為sox2重疊轉錄（sox2ot）的基因的內含子內。[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]