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
EMSY
LOCATION
11q13.5
LOCUSID
56946
ALIAS
C11orf30,GL002
FUSION GENES
Show Gene Fusions

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 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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
349630552022EMSY inhibits homologous recombination repair and the interferon response, promoting lung cancer immune evasion.29
349630552022EMSY inhibits homologous recombination repair and the interferon response, promoting lung cancer immune evasion.29
318123282020Genetic variants of the C11orf30-LRRC32 region are associated with childhood asthma in the Chinese population.3
332134022020Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility.0
318123282020Genetic variants of the C11orf30-LRRC32 region are associated with childhood asthma in the Chinese population.3
332134022020Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility.0
311546662019Clarifying the role of EMSY in DNA repair in ovarian cancer.7
311546732019High EMSY expression defines a BRCA-like subgroup of high-grade serous ovarian carcinoma with prolonged survival and hypersensitivity to platinum.16
311584012019EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis.11
311546662019Clarifying the role of EMSY in DNA repair in ovarian cancer.7
311546732019High EMSY expression defines a BRCA-like subgroup of high-grade serous ovarian carcinoma with prolonged survival and hypersensitivity to platinum.16
311584012019EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis.11
290301012018Genome-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
296635932018EMSY is increased and activates TSLP & CCL5 expression in eosinophilic esophagitis.4
290301012018Genome-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/case-report-explorer/cancer-prone-explorer/js/web-card-gene.js