SOX2

SRY (sex determining region Y)-box 2

PDB rendering based on 1gt0.
Identifiers
Symbols SOX2; ANOP3; MCOPS3; MGC2413
External IDs OMIM: 184429 MGI: 98364 HomoloGene: 68298 GeneCards: SOX2 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 6657 20674
Ensembl ENSG00000181449 ENSMUSG00000074637
UniProt P48431 P48432
RefSeq (mRNA) NM_003106.3 NM_011443.3
RefSeq (protein) NP_003097.1 NP_035573.3
Location (UCSC) Chr 3:
181.43 – 181.43 Mb		 Chr 3:
34.55 – 34.55 Mb
PubMed search [1] [2]

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]

Sox2 is one of the key transcription factors required in induced pluripotent stem cells.[3] As forced Oct4 expression induces pluripotency in Sox2-null cells, a group of researchers concluded that the primary role of Sox2 in induced pluripotent stem cells is controlling Oct4 expression, and they perpetuate their own expression when expressed concurrently.[4]

Contents

Interactions

SOX2 has been shown to interact with PAX6.[5]

References

  1. ^ "Entrez Gene: SOX2 SRY (sex determining region Y)-box 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6657. 
  2. ^ Tani, Yasuyo; Akiyama, Y; Fukamachi, H; Yanagihara, K; Yuasa, Y (2007). "Transcription factor SOX2 up-regulates stomach-specific pepsinogen A gene expression". J Cancer Res Clin Oncol 133 (4): 263–9. doi:10.1007/s00432-006-0165-x. PMID 17136346. 
  3. ^ Zhao R, Daley GQ (November 2008). "From fibroblasts to iPS cells: induced pluripotency by defined factors". J. Cell. Biochem. 105 (4): 949–55. doi:10.1002/jcb.21871. PMID 18668528. 
  4. ^ Masui, Shinji; Nakatake, Y; Toyooka, Y; Shimosato, D; Yagi, R; Takahashi, K; Okochi, H; Okuda, A et al. (2007). "Pluripotency governed by Sox2 via regulation of Oct3/4 expression in mouse embryonic stem cells". Nature Cell Biology 9 (6): 625–635. doi:10.1038/ncb1589. PMID 17515932. 
  5. ^ Aota, Shin-ichi; Nakajima Noboru, Sakamoto Ruriko, Watanabe Sonoe, Ibaraki Nobuhiro, Okazaki Kenji (May 2003). "Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene". Dev. Biol. (United States) 257 (1): 1–13. doi:10.1016/S0012-1606(03)00058-7. ISSN 0012-1606. PMID 12710953. 

Further reading

External links