Sox2

Sox2 is a transcription factor that is essential to maintain self-renewal of undifferentiated embryonic stem cells.

Nomenclature and gene families
Sox2 is a complex abbreviation of 'SRY-related HMG-box gene 2' which breaks down further into two:


 * HMG stands for 'high mobility group' and is the name given to the DNA-binding region of Sox2.
 * SRY stands for sex determining region Y as the first Sox transcription factor discovered was shown to be important in determining the sex of developing gametes.

Subsequent members of the Sox family of transcription factors have a related structure to Sry, but they do not necessarily have functions related to Sry.

Sox2 is a member of the SOX gene family.

Motif

 * SOX-TCF_HMG-box "

Exon Information

 * NM_003106.2 length: 2503 bp, number of exons: 1
 * NP_003097.1 length: 318 aa, number of exons: 1

Clinical significance
A mutation in Sox2 causes anophthalmia.

The ectopic expression of SOX2 may be related to abnormal differentiation of colorectal cancer cells.