Disease:Defects in SOX2 are the cause of microphthalmia syndromic type 3 (MCOPS3) [MIM:206900]. Microphthalmia is a clinically heterogeneous disorder of eye formation , ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia) . In many cases , microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS3 is characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia , and esophageal atresia with trachoesophageal fistula. ,Function: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. Critical for early embryogenesis and for embryonic stem cell pluripotency. ,online information:Sox2 entry ,PTM:Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation. ,similarity:Contains 1 HMG box DNA-binding domain. ,
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