GeneID: 38


Common Name: SOX6 Type: Gene
Chromosome: 11 (NC_000011.10) Locus: NG_012881.1 (SOX6)
HUGO Symbol: SOX6 Full Name: SRY-box 6
Exons: 15 Introns: 14

This gene is a member of the SOX family of transcription factors with a high-mobility-group (HMG) box DNA-binding domain, acting as regulators of cell fate and differentiation in various lineages. Unlike most transcription factors, the SOX HMG box binds within the minor groove and bends DNA to induce chromatin conformational changes that enhance protein accessibility and plasticity at SOX consensus binding sites, and, thereby, facilitate the formation of multiprotein complexes with activating or repressive activity. The encoded protein is required for normal development of the central nervous system, chondrogenesis, and maintenance of cardiac and skeletal muscle cells. It is also essential for normal erythropoiesis and has been shown to stimulate erythroid cell survival, proliferation and terminal maturation. Downregulation of SOX6 expression in primary adult erythroid cells led to increased HbF expression. SOX6 was shown to physically interact with BCL11A and possibly help recruit BCL11A and NuRD (nucleosome remodeling and deacetylase) repressor complexes to proximal γ-globin promoters during hemoglobin switching, which in turn represses the HBG1 and HBG2 genes.

Synonyms: SOXD , HSSOX6


Sequence Viewer

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Publications / Origin

  1. Yi Z, Cohen-Barak O, Hagiwara N, Kingsley PD, Fuchs DA, Erickson DT, Epner EM, Palis J, Brilliant MH, Sox6 directly silences epsilon globin expression in definitive erythropoiesis., PLoS Genet. , 2(2), e14, 2006 PubMed
  2. Lefebvre V, The SoxD transcription factors--Sox5, Sox6, and Sox13--are key cell fate modulators., Int. J. Biochem. Cell Biol. , 42(3), 429-32, 2010 PubMed
  3. Dumitriu B, Bhattaram P, Dy P, Huang Y, Quayum N, Jensen J, Lefebvre V, Sox6 is necessary for efficient erythropoiesis in adult mice under physiological and anemia-induced stress conditions., PLoS ONE , 5(8), e12088, 2010 PubMed
  4. Xu J, Sankaran VG, Ni M, Menne TF, Puram RV, Kim W, Orkin SH, Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6., Genes Dev. , 24(8), 783-98, 2010 PubMed
  5. Suzuki M, Yamamoto M, Engel JD, Fetal globin gene repressors as drug targets for molecular therapies to treat the β-globinopathies., Mol. Cell. Biol. , 34(19), 3560-9, 2014 PubMed
Created on , Last reviewed on 2016-04-25 14:29:08 (Show full history)

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