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]
Function
DNA binding; DNA binding; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription; chromatin binding; miRNA binding; protein binding; sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; transcription regulatory region sequence-specific DNA binding
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