SOX2-TAT Human Active 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]

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. 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. Ref.5

Subunit structure: Interacts with ZSCAN10

By similarity. Interacts with SOX3 and FGFR1

By similarity.

Subcellular location: Nucleus.

Post-translational modification: Sumoylation inhibits binding on DNA and negatively regulates the FGF4 transactivation

By similarity.

Involvement in disease: Microphthalmia, syndromic, 3 (MCOPS3) [MIM:206900]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Biotechnological use: POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 are the four Yamanaka factors. When combined, these factors are sufficient to reprogram differentiated cells to an embryonic-like state designated iPS (induced pluripotent stem) cells. iPS cells exhibit the morphology and growth properties of ES cells and express ES cell marker genes. Ref.5

Sequence similarities: Contains 1 HMG box DNA-binding domain.

Sequence caution: The sequence AAA35997.1 differs from that shown. Reason: Erroneous initiation. The sequence CAA83435.1 differs from that shown. Reason: Erroneous initiation.