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Gene Review

C11orf30  -  chromosome 11 open reading frame 30

Homo sapiens

Synonyms: EMSY, GL002, Protein EMSY
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Disease relevance of C11orf30


High impact information on C11orf30

  • EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer [1].
  • This is supported by the observation that a number of chromatin-regulator proteins, including HP1beta and BS69, bind directly to EMSY by means of a conserved motif adjacent to the ENT domain [4].
  • EMSY is a large nuclear protein that binds to the transactivation domain of BRCA2 [4].
  • This makes EMSY a strong candidate oncogene for the 11q13.5 amplicon [5].
  • EMSY overexpression correlated strongly with DNA amplification in both primary tumors and cell lines [5].

Biological context of C11orf30


Analytical, diagnostic and therapeutic context of C11orf30


  1. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Hughes-Davies, L., Huntsman, D., Ruas, M., Fuks, F., Bye, J., Chin, S.F., Milner, J., Brown, L.A., Hsu, F., Gilks, B., Nielsen, T., Schulzer, M., Chia, S., Ragaz, J., Cahn, A., Linger, L., Ozdag, H., Cattaneo, E., Jordanova, E.S., Schuuring, E., Yu, D.S., Venkitaraman, A., Ponder, B., Doherty, A., Aparicio, S., Bentley, D., Theillet, C., Ponting, C.P., Caldas, C., Kouzarides, T. Cell (2003) [Pubmed]
  2. Genomic instability of human mammary epithelial cells overexpressing a truncated form of EMSY. Raouf, A., Brown, L., Vrcelj, N., To, K., Kwok, W., Huntsman, D., Eaves, C.J. J. Natl. Cancer Inst. (2005) [Pubmed]
  3. Amplification of EMSY, a novel oncogene on 11q13, in high grade ovarian surface epithelial carcinomas. Brown, L.A., Irving, J., Parker, R., Kim, H., Press, J.Z., Longacre, T.A., Chia, S., Magliocco, A., Makretsov, N., Gilks, B., Pollack, J., Huntsman, D. Gynecol. Oncol. (2006) [Pubmed]
  4. Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69. Ekblad, C.M., Chavali, G.B., Basu, B.P., Freund, S.M., Veprintsev, D., Hughes-Davies, L., Kouzarides, T., Doherty, A.J., Itzhaki, L.S. EMBO Rep. (2005) [Pubmed]
  5. Amplification of the BRCA2 pathway gene EMSY in sporadic breast cancer is related to negative outcome. Rodriguez, C., Hughes-Davies, L., Vallès, H., Orsetti, B., Cuny, M., Ursule, L., Kouzarides, T., Theillet, C. Clin. Cancer Res. (2004) [Pubmed]
  6. Common variation in EMSY and risk of breast and ovarian cancer: a case-control study using HapMap tagging SNPs. Benusiglio, P.R., Lesueur, F., Luccarini, C., McIntosh, J., Luben, R.N., Smith, P., Dunning, A., Easton, D.F., Ponder, B.A., Pharoah, P.D. BMC Cancer (2005) [Pubmed]
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