transcriptional factor SOX2, ANOP3, cb236, Delta EF2a, lcc, MCOPS3, MGC148683, MGC2413, RGD1565646, Sex determining region Y box 2, Sex determining region Y-box 2, SOX 2, SRY (sex determining region Y) box 2, SRY box containing gene 2, SRY related HMG box 2, SRY related HMG box gene 2, SRY-box 2, ysb, SOX2_HUMAN, Transcription factor SOX-2, SOX2_HUMAN.
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).
