Protein Name | SRY-box transcription factor 2 |
---|---|
Organism | Homo sapiens |
Gene ID | 6657 |
Gene Symbol | SOX2 |
UniProt | P48431 (SOX2_HUMAN), A0A0U3FYV6 (A0A0U3FYV6_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
422
Total Number of Articles : 594 |
Description |
SRY-box transcription factor 2 |
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, Jul 2008] |
synonyms |
|
Properties | |