SOX2 Antibody – Rabbit Polyclonal

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; DNA-binding; Transcription factor

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

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

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

Biological Process: adenohypophysis development; cell cycle arrest; endodermal cell fate specification; establishment and/or maintenance of chromatin architecture; eye development; forebrain development; glial cell fate commitment; inner ear development; negative regulation of epithelial cell proliferation; negative regulation of neuron differentiation; negative regulation of transcription from RNA polymerase II promoter; osteoblast differentiation; pituitary gland development; positive regulation of cell differentiation; positive regulation of cell-cell adhesion; positive regulation of MAPKKK cascade; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of caspase activity; regulation of gene expression; regulation of transcription, DNA-dependent; response to wounding; somatic stem cell maintenance; tissue regeneration; transcription from RNA polymerase II promoter

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