SOX2

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

The protein expressed by the gene SOX2 is critical for early embryogenesis and for the pluripotency of embryonic stem cells (PubMed:18035408). This supplementary information is collated from multiple sources and compiled automatically.

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.

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.

• 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).

Transcription factor SOX-2, SOX2

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

Proteins

Neuroscience

• Oncology

34310Da