EMSY (BRCA2-interacting transcriptional repressor)
2004-05-01 Jean-Loup Huret , Sylvie Senon AffiliationGenetics, 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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 14651845 | 2003 | EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. | Hughes-Davies L et al |
| 14760417 | 2004 | EMSY, 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
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34963055 | 2022 | EMSY inhibits homologous recombination repair and the interferon response, promoting lung cancer immune evasion. | 29 |
| 34963055 | 2022 | EMSY inhibits homologous recombination repair and the interferon response, promoting lung cancer immune evasion. | 29 |
| 31812328 | 2020 | Genetic variants of the C11orf30-LRRC32 region are associated with childhood asthma in the Chinese population. | 3 |
| 33213402 | 2020 | Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility. | 0 |
| 31812328 | 2020 | Genetic variants of the C11orf30-LRRC32 region are associated with childhood asthma in the Chinese population. | 3 |
| 33213402 | 2020 | Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility. | 0 |
| 31154666 | 2019 | Clarifying the role of EMSY in DNA repair in ovarian cancer. | 7 |
| 31154673 | 2019 | High EMSY expression defines a BRCA-like subgroup of high-grade serous ovarian carcinoma with prolonged survival and hypersensitivity to platinum. | 16 |
| 31158401 | 2019 | EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis. | 11 |
| 31154666 | 2019 | Clarifying the role of EMSY in DNA repair in ovarian cancer. | 7 |
| 31154673 | 2019 | High EMSY expression defines a BRCA-like subgroup of high-grade serous ovarian carcinoma with prolonged survival and hypersensitivity to platinum. | 16 |
| 31158401 | 2019 | EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis. | 11 |
| 29030101 | 2018 | Genome-wide association study and meta-analysis in multiple populations identifies new loci for peanut allergy and establishes C11orf30/EMSY as a genetic risk factor for food allergy. | 31 |
| 29663593 | 2018 | EMSY is increased and activates TSLP & CCL5 expression in eosinophilic esophagitis. | 4 |
| 29030101 | 2018 | Genome-wide association study and meta-analysis in multiple populations identifies new loci for peanut allergy and establishes C11orf30/EMSY as a genetic risk factor for food allergy. | 31 |
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/emsy-(brca2-interacting-transcriptional-repressor)
