SOX2

Sox2 is a transcription factor of the SOX (Sry-related HMG-box) family. The protein contains a high-mobility-group (HMG) DNA-binding domain that recognizes specific DNA sequences and induces DNA bending, enabling regulatory interactions with other transcription factors.

Sox2 plays a central role in maintaining pluripotency in embryonic stem cells and in the inner cell mass of the early embryo. It functions within a core pluripotency network together with Oct4 and Nanog, helping to regulate genes that sustain an undifferentiated state. Sox2 is also one of the four factors used to reprogram somatic cells to induced pluripotent stem cells (iPSCs) when combined with Oct4, Klf4, and c-Myc.

In development, Sox2 is critical for neural development and is a marker of neural and some other stem/progenitor cell populations. It is expressed in neural progenitor cells and contributes to neural stem cell maintenance and differentiation. Disruption of Sox2 in mice leads to defects in neural development and embryonic lethality, illustrating its essential role.

The SOX2 gene is located on chromosome 3q26.33 in humans and, like many transcription factors, can give rise to multiple transcript variants by alternative splicing.

In cancer, SOX2 can be amplified or overexpressed in several tumor types, including glioblastoma and squamous cell carcinomas. Its expression is often associated with stem-like properties and has been linked to prognosis and treatment resistance in some contexts.