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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

Alias (NCBI)C11orf30
EMSY
GL002
ENT0
HGNC (Hugo) EMSY
HGNC Previous nameC11orf30
HGNC Previous namechromosome 11 open reading frame 30
 EMSY, BRCA2 interacting transcriptional repressor
LocusID (NCBI) 56946
Atlas_Id 173
Location 11q13.5  [Link to chromosome band 11q13]
Location_base_pair Starts at 76445025 and ends at 76552899 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping EMSY.png]
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 ]


External links

Nomenclature
HGNC (Hugo)EMSY   18071
Cards
AtlasC11ORF30ID173
Entrez_Gene (NCBI)EMSY    EMSY transcriptional repressor, BRCA2 interacting
AliasesC11orf30; GL002
GeneCards (Weizmann)EMSY
Ensembl hg19 (Hinxton)ENSG00000158636 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158636 [Gene_View]  ENSG00000158636 [Sequence]  chr11:76445025-76552899 [Contig_View]  EMSY [Vega]
ICGC DataPortalENSG00000158636
TCGA cBioPortalEMSY
AceView (NCBI)EMSY
Genatlas (Paris)EMSY
SOURCE (Princeton)EMSY
Genetics Home Reference (NIH)EMSY
Genomic and cartography
GoldenPath hg38 (UCSC)EMSY  -     chr11:76445025-76552899 +  11q13.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMSY  -     11q13.5   [Description]    (hg19-Feb_2009)
GoldenPathEMSY - 11q13.5 [CytoView hg19]  EMSY - 11q13.5 [CytoView hg38]
ImmunoBaseENSG00000158636
Genome Data Viewer NCBIEMSY [Mapview hg19]  
OMIM608574   
Gene and transcription
Genbank (Entrez)AF226047 AI275430 AJ430203 AK023651 AK125114
RefSeq transcript (Entrez)NM_001300942 NM_001300943 NM_001300944 NM_020193
Consensus coding sequences : CCDS (NCBI)EMSY
Gene ExpressionEMSY [ NCBI-GEO ]   EMSY [ EBI - ARRAY_EXPRESS ]   EMSY [ SEEK ]   EMSY [ MEM ]
Gene Expression Viewer (FireBrowse)EMSY [ Firebrowse - Broad ]
GenevisibleExpression of EMSY in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56946
GTEX Portal (Tissue expression)EMSY
Human Protein AtlasENSG00000158636-EMSY [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EMSY
Human Protein Atlas [tissue]ENSG00000158636-EMSY [tissue]
HPRD10544
Protein Interaction databases
BioGRIDEMSY
STRING (EMBL)EMSY
ZODIACEMSY
Ontologies - Pathways
Litterature
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEMSY
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:13:56 CEST 2021

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