Sox2

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SRY (sex determining region Y)-box 2
Identifiers
Symbol	SOX2
HUGO	11195
Entrez	6657
OMIM	184429
RefSeq	NM_003106.2
UniProt	P48431
Other data
Locus	Chr. 3 q26.3-q27

Sox2 is a transcription factor that is essential to maintain self-renewal of undifferentiated embryonic stem cells.

1 Nomenclature and gene families
2 Motif
3 Exon Information
4 Clinical signficance
5 See also
6 Sources
7 References
8 External links
9 References

[edit] Nomenclature and gene families

Sox2 is a complex abbreviation of 'SRY-related HMG-box gene 2' which breaks down further into two:

HMG stands for 'high mobility group' and is the name given to the DNA-binding region of Sox2.
SRY stands for sex determining region Y as the first Sox transcription factor discovered was shown to be important in determining the sex of developing gametes.

Subsequent members of the Sox family of transcription factors have a related structure to Sry, but they do not necessarily have functions related to Sry.

Sox2 is a member of the SOX gene family.

[edit] Motif

SOX-TCF_HMG-box "

[edit] Exon Information

NM_003106.2 length: 2503 bp, number of exons: 1
NP_003097.1 length: 318 aa, number of exons: 1

[edit] Clinical signficance

A mutation in Sox2 causes anophthalmia.

The ectopic expression of SOX2 may be related to abnormal differentiation of colorectal cancer cells. ^[1]

[edit] See also

[edit] Sources

New York Times "He has now applied the technique to human cells, starting with embryonic stem cells. The cells, he and colleagues say in the current issue of Cell, are controlled by a triumvirate of three transcription factors, known as oct4, sox2 and nanog.
MIT "The transcription factors Oct4, Sox2, and Nanog have essential roles in early development and are required for the propagation of undifferentiated embryonic stem (ES) cells in culture. To gain insights into transcriptional regulation of human ES cells, we have, in collaboration with the Young lab, identified Oct4, Sox2, and Nanog target genes using genome-scale location analysis. We found, surprisingly, that Oct4, Sox2, and Nanog co-occupy a substantial portion of their target genes. These target genes frequently encode transcription factors, many of which are developmentally important homeodomain proteins. Our data also show that Oct4, Sox2, and Nanog collaborate to form regulatory circuitry in ES cells consisting of autoregulatory and feedforward loops."
Young Lab- Core Transcriptional Regulatory Circuitry in Human Embryonic Stem Cells