SRY-Box 2 (SOX2) Recombinant Protein

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]

SOX2: 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. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Interacts with ZSCAN10. Interacts with SOX3 and FGFR1.

Protein type: Cell development/differentiation; Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 3q26.3-q27

Cellular Component: nucleoplasm; transcription factor complex; cytoplasm; nucleus; cytosol

Molecular Function: protein binding; miRNA binding; DNA binding; sequence-specific DNA binding; protein heterodimerization activity; chromatin binding; transcription factor activity

Biological Process: transcription from RNA polymerase II promoter; tongue development; establishment and/or maintenance of chromatin architecture; somatic stem cell maintenance; positive regulation of transcription, DNA-dependent; endodermal cell fate specification; diencephalon morphogenesis; negative regulation of transcription from RNA polymerase II promoter; regulation of caspase activity; olfactory placode formation; forebrain neuron differentiation; detection of mechanical stimulus involved in equilibrioception; positive regulation of MAPKKK cascade; regulation of transcription, DNA-dependent; tissue regeneration; forebrain development; male genitalia development; response to wounding; positive regulation of cell-cell adhesion; positive regulation of epithelial cell differentiation; adenohypophysis development; negative regulation of osteoblast differentiation; cell cycle arrest; inner ear development; positive regulation of Notch signaling pathway; negative regulation of epithelial cell proliferation; positive regulation of neuroblast proliferation; inner ear morphogenesis; response to retinoic acid; neuron fate commitment; detection of mechanical stimulus involved in sensory perception of sound; osteoblast differentiation; negative regulation of neuron differentiation; eye development; regulation of gene expression; pituitary gland development; glial cell fate commitment; positive regulation of transcription from RNA polymerase II promoter; cerebral cortex development; positive regulation of neuron differentiation; pigment biosynthetic process; alveolus development; retina morphogenesis in camera-type eye

Disease: Microphthalmia, Syndromic 3; Tracheoesophageal Fistula With Or Without Esophageal Atresia