Recombinant Human Transcription factor SOX-2 (SOX2)

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)

Subcellular Location

Nucleus speckle; Cytoplasm; Nucleus

Disease Association

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

Subunit

Interacts with ZSCAN10 (By similarity). Interacts with SOX3 and FGFR1 (By similarity). Interacts with GLIS1 (PubMed:21654807). Interacts with POU5F1; binds synergistically with POU5F1 to DNA (By similarity). Interacts with DDX56 (By similarity). Interacts with L3MBTL3 and DCAF5; the interaction requires methylation at Lys-42 and is necessary to target SOX2 for ubiquitination by the CRL4-DCAF5 E3 ubiquitin ligase complex (PubMed:30442713). Interacts with RCOR1/CoREST (By similarity) (PubMed:30442713). Interacts with PHF20L1; the interaction requires methylation at Lys-42 and Lys-117 and protects SOX2 from degradation (PubMed:29358331). Interacts with TRIM26; this interaction prevents ubiquitination by WWP2 (PubMed:34732716)

• Stevanovic M. et al. The cDNA sequence and chromosomal location of the human SOX2 gene. — Mamm. Genome (1994)
• Sadler L.A. et al. PubMed: CI-4HB5T1RKG72PR (DEC-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Fantes J. et al. Mutations in SOX2 cause anophthalmia. — Nat. Genet. (2003)
• Takahashi K. et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. — Cell (2007)
• Gontan C. et al. Exportin 4 mediates a novel nuclear import pathway for Sox family transcription factors. — J. Cell Biol. (2009)
• Maekawa M. et al. Direct reprogramming of somatic cells is promoted by maternal transcription factor Glis1. — Nature (2011)
• Rigbolt K.T. et al. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. — Sci. Signal. (2011)