Entrez gene ID | | 6657 |
Official gene symbol | | SOX2 |
Full name | | SRY (sex determining region Y)-box 2 |
Aliases | | ,ANOP3,MCOPS3,MGC2413, |
Gene 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] |
Location | | Chromosome: 3 Locus: 3q26.3-q27 |
Gene position | | 181429722 - 181432224 Map Viewer |
Gene orientation | | plus |
Gene size | | 2503 bp |
Gene sequence |
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OMIM ID | | 184429 |
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