SOX2 : SRY-box transcription factor 2
Description
The SOX2 (SRY-box transcription factor 2) is a protein-coding gene located on chromosome 3.
The SOX2 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX2 protein is especially important for the development of the eyes. This protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the SOX2 protein is called a transcription factor.
SOX2 acts as a transcription factor, forming a trimeric complex with OCT4 on DNA. This complex regulates the expression of genes essential for embryonic development, including YES1, FGF4, UTF1, and ZFP206. SOX2 also binds to the proximal enhancer region of NANOG. It plays a critical role in early embryogenesis and maintains embryonic stem cell pluripotency. SOX2 is a downstream target of SRRT, mediating the promotion of neural stem cell self-renewal. It helps keep neural cells undifferentiated by counteracting proneural proteins and suppressing neuronal differentiation. SOX2 may act as a switch in neuronal development.
SOX2 is also known as ANOP3, MCOPS3.
Associated Diseases
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Septo-optic dysplasia spectrum
- Microphthalmia, syndromic 3
- Nanophthalmos
- SOX2 anophthalmia syndrome
- Septo-optic dysplasia
- Combined pituitary hormone deficiency
- Microphthalmia
- Coloboma
