SOX2

Domain

The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.

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 (By similarity). Binds to the proximal enhancer region of NANOG (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency (PubMed:18035408). 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). May function as a switch in neuronal development (By similarity).

Involvement in disease

Microphthalmia, syndromic, 3

MCOPS3

A disease characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Microphthalmia is a 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.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation.

Methylation at Lys-42 and Lys-117 is necessary for the regulation of SOX2 proteasomal degradation.

Ubiquitinated by WWP2, leading to proteasomal degradation.

Cellular localization

• Nucleus speckle
• Cytoplasm
• Nucleus
• Acetylation contributes to its nuclear localization and deacetylation by HDAC3 induces a cytoplasmic delocalization (By similarity). Colocalizes in the nucleus with ZNF208 isoform KRAB-O and tyrosine hydroxylase (TH) (By similarity). Colocalizes with SOX6 in speckles. Colocalizes with CAML in the nucleus (By similarity). Nuclear import is facilitated by XPO4, a protein that usually acts as a nuclear export signal receptor (By similarity).

Alternative names

• Transcription factor SOX-2
• SOX2

Database links

• entrezGene:6657
• omim:184429
• swissprot:P48431

Target type

Proteins

Primary research area

Neuroscience

Other research areas

• Oncology

Molecular weight

34310Da