EMSY (BRCA2-interacting transcriptional repressor)

2004-05-01   Jean-Loup Huret , Sylvie Senon 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
11q13.5
LOCUSID
ALIAS
C11orf30,GL002
FUSION GENES

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.

Proteins

Localisation

nucleus

Function

binds BRCA2 at its N-term transactivation domain; may repress the transcritional activity of BRCA2

Implicated in

Entity name
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

Pubmed IDLast YearTitleAuthors
146518452003EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer.Hughes-Davies L et al
147604172004EMSY, a BRCA-2 partner in crime.Livingston DM et al

Other Information

Locus ID:

NCBI: 56946
MIM: 608574
HGNC: 18071
Ensembl: ENSG00000158636

Variants:

dbSNP: 56946
ClinVar: 56946
TCGA: ENSG00000158636
COSMIC: EMSY

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158636ENST00000334736Q7Z589
ENSG00000158636ENST00000524451H0YCS3
ENSG00000158636ENST00000524490E9PMC9
ENSG00000158636ENST00000524767Q7Z589
ENSG00000158636ENST00000525038Q7Z589
ENSG00000158636ENST00000525919Q7Z589
ENSG00000158636ENST00000529032Q7Z589
ENSG00000158636ENST00000531793H0YEP9
ENSG00000158636ENST00000531998H0YDI4
ENSG00000158636ENST00000532719H0YET8
ENSG00000158636ENST00000533248Q7Z589
ENSG00000158636ENST00000533972E9PPE6
ENSG00000158636ENST00000533988Q7Z589

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
146518452003EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer.121
193499842009A common variant on chromosome 11q13 is associated with atopic dermatitis.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
254079412014GWAS identifies four novel eosinophilic esophagitis loci.61
183149092008Amplification of 11q13 in ovarian carcinoma.56
191313382009Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation.37
223154122012The protein kinase Akt1 regulates the interferon response through phosphorylation of the transcriptional repressor EMSY.28
162363512006Amplification of EMSY, a novel oncogene on 11q13, in high grade ovarian surface epithelial carcinomas.26
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
191245062009Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.22

Citation

Jean-Loup Huret ; Sylvie Senon

EMSY (BRCA2-interacting transcriptional repressor)

Atlas Genet Cytogenet Oncol Haematol. 2004-05-01

Online version: http://atlasgeneticsoncology.org/gene/173/c11orf30id173