Gene Symbol | SOX2 |
Entrez Gene ID | 6657 |
Full Name | SRY-box 2 |
Synonyms | ANOP3,MCOPS3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Microphthalmia, syndromic 3, 206900 (3); Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3) |