Aliases for SOX2 Gene
External Ids for SOX2 Gene
Previous GeneCards Identifiers for SOX2 Gene
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]
GeneCards Summary for SOX2 Gene
SOX2 (SRY-Box 2) is a Protein Coding gene. Diseases associated with SOX2 include microphthalmia, syndromic 3 and anophthalmia/microphthalmia. Among its related pathways are Signaling by GPCR and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is SOX11.
UniProtKB/Swiss-Prot for SOX2 Gene
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). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. 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).