SOX11

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SRY (sex determining region Y)-box 11
Identifiers
Symbols SOX11 ; MRD27
External IDs OMIM600898 MGI98359 HomoloGene37733 GeneCards: SOX11 Gene
RNA expression pattern
PBB GE SOX11 204915 s at tn.png
PBB GE SOX11 204913 s at tn.png
PBB GE SOX11 204914 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6664 20666
Ensembl ENSG00000176887 ENSMUSG00000063632
UniProt P35716 Q7M6Y2
RefSeq (mRNA) NM_003108 NM_009234
RefSeq (protein) NP_003099 NP_033260
Location (UCSC) Chr 2:
5.83 – 5.84 Mb
Chr 12:
27.34 – 27.34 Mb
PubMed search [1] [2]

Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.[1][2][3]

This intronless gene encodes a member of the group C SOX (SRY-related HMG-box) transcription factor family involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis and adult neurogenesis.[3][4] Tuj1 and Tead2 are suggested as direct target of Sox11.[5][6][7]

Clinical aspect[edit]

Mutations in SOX11 are associated to Coffin-Siris syndrome .[8]

See also[edit]

References[edit]

  1. ^ Jay P, Goze C, Marsollier C, Taviaux S, Hardelin JP, Koopman P, Berta P (Aug 1996). "The human SOX11 gene: cloning, chromosomal assignment and tissue expression". Genomics 29 (2): 541–5. doi:10.1006/geno.1995.9970. PMID 8666406. 
  2. ^ Wiebe MS, Nowling TK, Rizzino A (May 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. 
  3. ^ a b "Entrez Gene: SOX11 SRY (sex determining region Y)-box 11". 
  4. ^ Haslinger A, Schwarz TJ, Covic M, Chichung Lie D. (May 2009). "Expression of Sox11 in adult neurogenic niches suggests a stage-specific role in adult neurogenesis". Eur J Neurosci. 29 (11): 2103–14. doi:10.1111/j.1460-9568.2009.06768.x. PMID 19490090. 
  5. ^ Bergsland M, Werme M, Malewicz M, Perlmann T, Muhr J. (Dec 2006). "The establishment of neuronal properties is controlled by Sox4 and Sox11". Genes Dev. 20 (24): 3475–86. doi:10.1101/gad.403406. PMC 1698453. PMID 17182872. 
  6. ^ Bhattaram P, Penzo-Méndez A, Sock E, Colmenares C, Kaneko KJ, Vassilev A, Depamphilis ML, Wegner M, Lefebvre V. (Apr 2010). "Organogenesis relies on SoxC transcription factors for the survival of neural and mesenchymal progenitors". Nat Commun. 1 (1): 9. doi:10.1038/ncomms1008. PMC 2892298. PMID 20596238. 
  7. ^ Larson, Benjamin; Ylostalo, Joni; Lee, Ryang H; Gregory, Carl; Prockop, Darwin J (November 2010). "Sox11 is expressed in early progenitor human multipotent stromal cells and decreases with extensive expansion of the cells.". Tissue Eng Part A 11 (11): 3385–94. doi:10.1089/ten.tea.2010.0085. PMC 2965191. PMID 20626275. 
  8. ^ Tsurusaki, Y; Koshimizu, E; Ohashi, H; Phadke, S; Kou, I; Shiina, M; Suzuki, T; Okamoto, N; Imamura, S; Yamashita, M; Watanabe, S; Yoshiura, K; Kodera, H; Miyatake, S; Nakashima, M; Saitsu, H; Ogata, K; Ikegawa, S; Miyake, N; Matsumoto, N (2014). "De novo SOX11 mutations cause Coffin-Siris syndrome". Nature Communications 5: 4011. doi:10.1038/ncomms5011. PMID 24886874.  edit

Further reading[edit]