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Beschreibung

Transcription factor SOX-2 (UniProt: P48431, also known as SOX-2, Sex determining region Y-box 2, SRY-related HMG-box gene 2) is encoded by the SOX2 gene (Gene ID: 6657) in human. SOX-2 is a 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. It is shown to be critical for early embryogenesis and for embryonic stem cell pluripotency. It may function as a switch in neuronal development. It allows neural cells in undifferentiated state by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Sumoylation of SOX-2 is shown to inhibit binding on DNA and negatively regulate the FGF4 transactivation. Defects in SOX2 gene are linked to microphthalmia that is characterized by eye malformation ranging from small eye size of a single eye to complete bilateral absence of ocular tissue.