SOX2

	SRY (sex determining region Y)-box 2
	PDB rendering based on 1gt0.
	Available structures: 1gt0, 1o4x
	Identifiers
Symbol(s)	SOX2; ANOP3; MCOPS3; MGC2413
External IDs	OMIM: 184429 MGI: 98364 HomoloGene: 68298
Gene ontology
Molecular Function:	• transcription factor activity; • protein binding;
Cellular Component:	• nucleus; • cytoplasm;
Biological Process:	• cell fate specification; • establishment and/or maintenance of chromatin architecture; • transcription; • regulation of transcription, DNA-dependent; • inner ear morphogenesis; • positive regulation of transcription from RNA polymerase II promoter; • pigment biosynthetic process; • detection of mechanical stimulus during sensory perception of sound; • detection of mechanical stimulus during equilibrioception;
	RNA expression pattern
	More reference expression data
	Orthologs

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SRY (sex determining region Y)-box 2, also known as SOX2, is a transcription factor that is essential to maintain self-renewal of undifferentiated embryonic stem cells.

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 encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. Mutations in this gene have been associated with bilateral anophthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT).^[1]

The ectopic expression of SOX2 may be related to abnormal differentiation of colorectal cancer cells. ^[2]

[edit] References

^ "Entrez Gene: SOX2 SRY (sex determining region Y)-box 2".
^ "Transcription factor SOX2 up-regulates stomach-specific pepsinogen A gene expression" . J Cancer Res Clin Oncol. doi:10.1007/s00432-006-0165-x. PMID 17136346.

[edit] Further reading

Kamachi Y, Uchikawa M, Kondoh H (2000). "Pairing SOX off: with partners in the regulation of embryonic development.". Trends Genet. 16 (4): 182–7. PMID 10729834.
Schepers GE, Teasdale RD, Koopman P (2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families.". Dev. Cell 3 (2): 167–70. PMID 12194848.
Hever AM, Williamson KA, van Heyningen V (2007). "Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.". Clin. Genet. 69 (6): 459–70. doi:10.1111/j.1399-0004.2006.00619.x. PMID 16712695.
Yuan H, Corbi N, Basilico C, Dailey L (1995). "Developmental-specific activity of the FGF-4 enhancer requires the synergistic action of Sox2 and Oct-3.". Genes Dev. 9 (21): 2635–45. PMID 7590241.
Stevanovic M, Zuffardi O, Collignon J, et al. (1995). "The cDNA sequence and chromosomal location of the human SOX2 gene.". Mamm. Genome 5 (10): 640–2. PMID 7849401.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
Helland R, Berglund GI, Otlewski J, et al. (1999). "High-resolution structures of three new trypsin-squash-inhibitor complexes: a detailed comparison with other trypsins and their complexes.". Acta Crystallogr. D Biol. Crystallogr. 55 (Pt 1): 139–48. doi:10.1107/S090744499801052X. PMID 10089404.
Güre AO, Stockert E, Scanlan MJ, et al. (2000). "Serological identification of embryonic neural proteins as highly immunogenic tumor antigens in small cell lung cancer.". Proc. Natl. Acad. Sci. U.S.A. 97 (8): 4198–203. PMID 10760287.
Ambrosetti DC, Schöler HR, Dailey L, Basilico C (2000). "Modulation of the activity of multiple transcriptional activation domains by the DNA binding domains mediates the synergistic action of Sox2 and Oct-3 on the fibroblast growth factor-4 enhancer.". J. Biol. Chem. 275 (30): 23387–97. doi:10.1074/jbc.M000932200. PMID 10801796.
Kamachi Y, Uchikawa M, Tanouchi A, et al. (2001). "Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development.". Genes Dev. 15 (10): 1272–86. doi:10.1101/gad.887101. PMID 11358870.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Fantes J, Ragge NK, Lynch SA, et al. (2003). "Mutations in SOX2 cause anophthalmia.". Nat. Genet. 33 (4): 461–3. doi:10.1038/ng1120. PMID 12612584.
Wiebe MS, Nowling TK, Rizzino A (2003). "Identification of novel domains within Sox-2 and Sox-11 involved in autoinhibition of DNA binding and partnership specificity.". J. Biol. Chem. 278 (20): 17901–11. doi:10.1074/jbc.M212211200. PMID 12637543.
Aota S, Nakajima N, Sakamoto R, et al. (2003). "Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene.". Dev. Biol. 257 (1): 1–13. PMID 12710953.
Schepers G, Wilson M, Wilhelm D, Koopman P (2003). "SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro.". J. Biol. Chem. 278 (30): 28101–8. doi:10.1074/jbc.M304067200. PMID 12732652.
Reményi A, Lins K, Nissen LJ, et al. (2003). "Crystal structure of a POU/HMG/DNA ternary complex suggests differential assembly of Oct4 and Sox2 on two enhancers.". Genes Dev. 17 (16): 2048–59. doi:10.1101/gad.269303. PMID 12923055.
Williams DC, Cai M, Clore GM (2004). "Molecular basis for synergistic transcriptional activation by Oct1 and Sox2 revealed from the solution structure of the 42-kDa Oct1.Sox2.Hoxb1-DNA ternary transcription factor complex.". J. Biol. Chem. 279 (2): 1449–57. doi:10.1074/jbc.M309790200. PMID 14559893.
Tsukamoto T, Inada K, Tanaka H, et al. (2004). "Down-regulation of a gastric transcription factor, Sox2, and ectopic expression of intestinal homeobox genes, Cdx1 and Cdx2: inverse correlation during progression from gastric/intestinal-mixed to complete intestinal metaplasia.". J. Cancer Res. Clin. Oncol. 130 (3): 135–45. doi:10.1007/s00432-003-0519-6. PMID 14655050.