Background

SOX2 (SRY-Box Transcription Factor 2) is a Protein Coding gene. Diseases associated with SOX2 include Microphthalmia, Syndromic 3 and Septooptic Dysplasia. Among its related pathways are Gene expression (Transcription) and Signaling by WNT. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is SOX1. Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Binds to the proximal enhancer region of NANOG (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency (PubMed:18035408). Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity). May function as a switch in neuronal development (By similarity). ( SOX2_HUMAN,P48431 )