{"symbol":"SOX2","synonyms":["MCOPS3","ANOP3"],"name":"SRY (sex determining region Y)-box 2","description":"This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":6657,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/6657","proteins":[{"symbol":"SOX2_HUMAN","href":"/api/1.0/protein/SOX2_HUMAN"}],"hgncRootFamilies":[{"name":"SRY (sex determining region Y)-boxes (SOX)","href":"/api/1.0/gene_family/SRY+%28sex+determining+region+Y%29-boxes+%28SOX%29"}]}