Chromatin Regulator | Alias |
| CBX2 | SRXY5;CDCA6;M33 |
External Links: | Wiki GeneCards NCBI UniProt |
Related histone modifications: | H3K9me3;H3K27me3 |
Introduction | |
| Full name: Chromobox protein homolog 2
CBX2 is a member of CBX family,contains a single N-terminal chromodomain which interacts with H3K27me3 to help the recruitment and stabilization of PRC1 to specific chromatin regions,and haves a C-terminal polycomb repressor box which is involved in transcriptional silencing and binding to other PRC1 components such as RING1B(1-4).
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Function and Interaction | |
| Cbx2 directs catalytically active polcomb-group repressive complex 1 (PRC1) to pericentric heterochromatin (PCH) via its chromodomain and neighborting AT-hook binding to H3K27me3 and AT-rich major satellites(5).Cbx2 is involved in the molecular pathogenesis of disorders of sex developmental (DSD) cases,stimulates the male pathway and concurrently inhibits the female pathway(6,7).Cbx2 is required for Sry gene expression in mice which regulates gonadal development(8).Cbx2 stably associates with mitotic chromosomes via a PRC2- or PRC1-independent mechanism and is needed for recruiting PRC1 complex to mitotic chromosomes(9).
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Disease Association | |
| Diseases associated with CBX2 include 46Xy Sex Reversal 5 and 46Xy Gonadal Dysgenesis(10).
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ChIP-Seq data
ChIP-Seq data of related histone modifications
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References | |
1.Ma, R.G., Zhang, Y., Sun, T.T., and Cheng, B. (2014). Epigenetic regulation by polycomb group complexes: focus on roles of CBX proteins. J Zhejiang Univ Sci B 15, 412-428.
2.Bernstein, E., Duncan, E.M., Masui, O., Gil, J., Heard, E., and Allis, C.D. (2006). Mouse polycomb proteins bind differentially to methylated histone H3 and RNA and are enriched in facultative heterochromatin. Mol Cell Biol 26, 2560-2569.
3.Wotton, D., and Merrill, J.C. (2007). Pc2 and SUMOylation. Biochem Soc Trans 35, 1401-1404.
4.Muller, J., Gaunt, S., and Lawrence, P.A. (1995). Function of the Polycomb protein is conserved in mice and flies. Development 121, 2847-2852.
5.Tardat, M., Albert, M., Kunzmann, R., Liu, Z., Kaustov, L., Thierry, R., Duan, S., Brykczynska, U., Arrowsmith, C.H., and Peters, A.H. (2015). Cbx2 targets PRC1 to constitutive heterochromatin in mouse zygotes in a parent-of-origin-dependent manner. Mol Cell 58, 157-171.
6.Biason-Lauber, A., Konrad, D., Meyer, M., DeBeaufort, C., and Schoenle, E.J. (2009). Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet 84, 658-663.
7.Eid, W., Opitz, L., and Biason-Lauber, A. (2015). Genome-wide identification of CBX2 targets: insights in the human sex development network. Mol Endocrinol 29, 247-257.
8.Katoh-Fukui, Y., Miyabayashi, K., Komatsu, T., Owaki, A., Baba, T., Shima, Y., Kidokoro, T., Kanai, Y., Schedl, A., Wilhelm, D., et al. (2012). Cbx2, a polycomb group gene, is required for Sry gene expression in mice. Endocrinology 153, 913-924.
9.Zhen, C.Y., Duc, H.N., Kokotovic, M., Phiel, C.J., and Ren, X. (2014). Cbx2 stably associates with mitotic chromosomes via a PRC2- or PRC1-independent mechanism and is needed for recruiting PRC1 complex to mitotic chromosomes. Mol Biol Cell 25, 3726-3739.
10.Biason-Lauber, A., Konrad, D., Meyer, M., DeBeaufort, C., and Schoenle, E.J. (2009). Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet 84, 658-663.
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