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EMSY (BRCA2-interacting transcriptional repressor)

Written2004-05Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other aliasC11orf30
EMSY
GL002
ENT0
LocusID (NCBI) 56946
Atlas_Id 173
Location 11q13.5  [Link to chromosome band 11q13]
Location_base_pair Starts at and ends at bp from pter
Local_order CCND1 is also at 11q13
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CACNB1 (17q12) / EMSY (11q13.5)EMSY (11q13.5) / BBS9 (7p14.3)EMSY (11q13.5) / CTNND1 (11q12.1)
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)INTS8 (8q22.1) / EMSY (11q13.5)
INTS9 (8p21.1) / 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) [ 1 ]
  Breast: Ductal carcinoma


External links

Nomenclature
Cards
AtlasC11ORF30ID173.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)56946
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:30:20 CEST 2018

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