| Written | 2004-05 | Jean-Loup Huret, Sylvie Senon |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| Other names | C11orf30 |
| EMSY | |
| GL002 | |
| ENT0 | |
| HGNC (Hugo) | EMSY |
| LocusID (NCBI) | 56946 |
| Atlas_Id | 173 |
| Location | 11q13.5 [Link to chromosome band 11q13] |
| Location_base_pair | Starts at 76156069 and ends at 76263943 bp from pter ( according to hg19-Feb_2009) |
| Local_order | CCND1 is also at 11q13 |
| Fusion genes (updated 2016) | CACNB1 (17q12) / EMSY (11q13.5) | EMSY (11q13.5) / BBS9 (7p14.3) | EMSY (11q13.5) / EMSY (11q13.5) |
| EMSY (11q13.5) / KMT5B (11q13.2) | EMSY (11q13.5) / SLC30A9 (4p13) | EMSY (11q13.5) / UVRAG (11q13.5) | |
| INTS4 (11q14.1) / EMSY (11q13.5) |
| DNA/RNA |
| Description | The gene spans 107 kb; on direct strand |
| Transcription | at least 11 transcripts; one transcript of 4kb and 21 exons encodes a protein of 1323 amino acids and 141 kDa. |
| Protein |
| Localisation | nucleus |
| Function | binds BRCA2 at its N-term transactivation domain; may repress the transcritional activity of BRCA2 |
| Implicated in |
| Note | |
| Entity | C11ORF30/EMSY was found amplified in 7 and 17 % of cases respectively of sporadic breast cancers and high grade ovarian cancers, but very rarely in other cancers tested. |
| Note | 11q13 is frequently amplified in sporadic breast cancers; CCND1, in particular, is amplified in about 20% of cases. However, C11ORF30/EMSY was found amplified in cases with normal CCND1: they are independant factors. |
| Prognosis | C11ORF30/EMSY amplification is associated with a worse prognosis in node-negative breast cancers, and has no prgnosis implication in node-positive breast cancers. |
| Bibliography |
| EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. |
| Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T |
| Cell. 2003 ; 115 (5) : 523-535. |
| PMID 14651845 |
| EMSY, a BRCA-2 partner in crime. |
| Livingston DM |
| Nature medicine. 2004 ; 10 (2) : 127-128. |
| PMID 14760417 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL ; Senon, S |
| C11ORF30 (chromosome 11 open reading frame 30) |
| Atlas Genet Cytogenet Oncol Haematol. 2004;8(3):190-190. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/C11ORF30ID173.html |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ] |
|
Breast: Ductal carcinoma
|
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 19 19:26:17 CEST 2016 |
For comments and suggestions or contributions, please contact us