Property Summary

NCBI Gene PubMed Count 46
PubMed Score 29.23
PubTator Score 32.37

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma 1.700 1.5e-06
osteosarcoma -1.725 1.6e-09
atypical teratoid / rhabdoid tumor -1.700 3.8e-05
glioblastoma -2.000 7.6e-06
group 3 medulloblastoma 1.200 4.7e-03
medulloblastoma, large-cell -1.700 2.5e-04
primitive neuroectodermal tumor -1.200 1.5e-02
tuberculosis and treatment for 6 months -1.800 8.8e-05
adult high grade glioma -1.700 4.8e-04

Gene RIF (32)

PMID Text
26841866 identify a novel substoichiometric interactor of the complex, transcription factor ZNF131, which recruits EMSY to a large number of active, H3K4me3 marked promoters.
26464032 The rs2155219 single nucleotide polymorphism was significantly associated with atopic dermatitis.
25546184 The association of higher levels of expression of C11orf30 may be involved in transcription repression of interferon-stimulated genes, and its association with sensitization to multiple allergens suggest that this locus is highly relevant for atopy.
25510665 Our study demonstrated that EMSY played an oncogenic role in the progression of ovarian cancer cells and EMSY might be a promising target for the treatment
25407941 Eosinophilic esophagitis was associate with increased expression of C11orf30.
24641409 Univariate analysis revealed a significant positive association between EMSY expression and lymph node metastasis, larger tumor size, as well as a non-significant relation with increased risk of recurrence.
24582497 EMSY is recruited to the miR-31 promoter by the DNA binding factor ETS-1, and it represses miR-31 transcription by delivering the H3K4me3 demethylase JARID1b/PLU-1/KDM5B
22315412 Akt1 regulates the interferon response through phosphorylation of the transcriptional repressor EMSY
22070912 There are 2 independent signals, one in C11orf30 and the other in LRRC32, that are strongly associated with serum IgE levels. C11orf30-LRRC32 region may represent a common locus for atopic diseases via pathways involved in regulation of serum IgE levels
21409565 EMSY amplification may mimic BRCA2 deficiency, at least by overriding RPA and PALB2, crippling the BRCA2/RAD51 complex at DNA-damage and replication/transcription sites
21327470 EMSY amplification does occur independently of CCND1 amplification in a minority of familial breast cancers, supporting its role as a possible breast cancer oncogene
21072187 Observational study of gene-disease association. (HuGE Navigator)
21064104 Observational study of gene-disease association. (HuGE Navigator)
20503266 Observational study of gene-disease association. (HuGE Navigator)
20453000 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20349280 Sporadic ovarian cancer shows overexpression of EMSY at a prevalence similar to that found in breast cancer and the overexpression is correlated with the protein level.
19760754 Observational study of gene-disease association. (HuGE Navigator)
19636701 co-amplification of CCND1 and EMSY identified a poor prognostic subset of ER-positive tamoxifen-treated patients
19349984 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19131338 The identified components revealed factors involved in histone methylation and cell cycle control and include Ash2L, RbBP5, WDR5, HCF-1, DBC-1, and EMSY.
19124506 Observational study of gene-disease association. (HuGE Navigator)
18950845 Observational study of gene-disease association. (HuGE Navigator)
18787380 Data examine possible allelic imbalance in papillary thyroid cancer at EMSY, CAPN5, and PAK1, as candidate genes within 11q13.5-q14 region using a single nucleotide polymorphism-based analysis.
18393977 gene copy numbers of EMSY in breast cancers
18314909 In an ovarian carcinoma cohort, RSF1 was amplified in 16% of the cases. It was correlated with serous histology and a worse prognosis. The 11q13 amplicon in ovarian cancer is likely driven by a cassette of genes rather than by a single oncogene.
16236351 Findings support the role of EMSY as a key oncogene within the 11q13 amplicon in ovarian cancer.
16145051 These results support the hypothesis that EMSY overexpression can play a role in the genesis of human breast cancer.
16029503 common genetic variation in EMSY does not appear to have a role in development of breast or ovarian cancer
15978617 report the crystal structure of the ENT domain of EMSY; dimerisation of EMSY mediated by the ENT domain could provide flexibility for it to bind two or more different substrates simultaneously
15947784 The crystal structure of residues 1-108 of EMSY at 2.0 A resolution is reported; the structure contains both the ENT domain and the HP1beta/BS69-binding motif.
14651845 The remarkable clinical overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer.

AA Sequence

MPVVWPTLLDLSRDECKRILRKLELEAYAGVISALRAQGDLTKEKKDLLGELSKVLSISTERHRAEVRRA      1 - 70
VNDERLTTIAHNMSGPNSSSEWSIEGRRLVPLMPRLVPQTAFTVTANAVANAAIQHNASLPVPAETGSKE     71 - 140
VVCYSYTSTTSTPTSTPVPSGSIATVKSPRPASPASNVVVLPSGSTVYVKSVSCSDEDEKPRKRRRTNSS    141 - 210
SSSPVVLKEVPKAVVPVSKTITVPVSGSPKMSNIMQSIANSLPPHMSPVKITFTKPSTQTTNTTTQKVII    211 - 280
VTTSPSSTFVPNILSKSHNYAAVTKLVPTSVIASTTQKPPVVITASQSSLVSNSSSGSSSSTPSPIPNTV    281 - 350
AVTAVVSSTPSVVMSTVAQGVSTSAIKMASTRLPSPKSLVSAPTQILAQFPKQHQQSPKQQLYQVQQQTQ    351 - 420
QQVAQPSPVSHQQQPQQSPLPPGIKPTIQIKQESGVKIITQQVQPSKILPKPVTATLPTSSNSPIMVVSS    421 - 490
NGAIMTTKLVTTPTGTQATYTRPTVSPSIGRMAATPGAATYVKTTSGSIITVVPKSLATLGGKIISSNIV    491 - 560
SGTTTKITTIPMTSKPNVIVVQKTTGKGTTIQGLPGKNVVTTLLNAGGEKTIQTVPTGAKPAILTATRPI    561 - 630
TKMIVTQPKGIGSTVQPAAKIIPTKIVYGQQGKTQVLIKPKPVTFQATVVSEQTRQLVTETLQQASRVAE    631 - 700
AGNSSIQEGKEEPQNYTDSSSSSTESSQSSQDSQPVVHVIASRRQDWSEHEIAMETSPTIIYQDVSSESQ    701 - 770
SATSTIKALLELQQTTVKEKLESKPRQPTIDLSQMAVPIQMTQEKRHSPESPSIAVVESELVAEYITTER    771 - 840
TDEGTEVAFPLLVSHRSQPQQPSQPQRTLLQHVAQSQTATQTSVVVKSIPASSPGAITHIMQQALSSHTA    841 - 910
FTKHSEELGTEEGEVEEMDTLDPQTGLFYRSALTQSQSAKQQKLSQPPLEQTQLQVKTLQCFQTKQKQTI    911 - 980
HLQADQLQHKLPQMPQLSIRHQKLTPLQQEQAQPKPDVQHTQHPMVAKDRQLPTLMAQPPQTVVQVLAVK    981 - 1050
TTQQLPKLQQAPNQPKIYVQPQTPQSQMSLPASSEKQTASQVEQPIITQGSSVTKITFEGRQPPTVTKIT   1051 - 1120
GGSSVPKLTSPVTSISPIQASEKTAVSDILKMSLMEAQIDTNVEHMIVDPPKKALATSMLTGEAGSLPST   1121 - 1190
HMVVAGMANSTPQQQKCRESCSSPSTVGSSLTTRKIDPPAVPATGQFMRIQNVGQKKAEESPAEIIIQAI   1191 - 1260
PQYAIPCHSSSNVVVEPSGLLELNNFTSQQLDDEETAMEQDIDSSTEDGTEPSPSQSSAERS           1261 - 1322
//

Text Mined References (56)

PMID Year Title
26841866 2016 Recruitment of the Mammalian Histone-modifying EMSY Complex to Target Genes Is Regulated by ZNF131.
26464032 2015 Association analysis of allergic sensitization susceptibility loci with atopic dermatitis in Chinese population.
25546184 2015 The locus C11orf30 increases susceptibility to poly-sensitization.
25510665 2015 EMSY promoted the growth and migration of ovarian cancer cells.
25416956 2014 A proteome-scale map of the human interactome network.
25407941 2014 GWAS identifies four novel eosinophilic esophagitis loci.
25017104 2014 Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
24641409 2014 Expression of EMSY, a novel BRCA2-link protein, is associated with lymph node metastasis and increased tumor size in breast carcinomas.
24582497 2014 The breast cancer oncogene EMSY represses transcription of antimetastatic microRNA miR-31.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23886662 2013 A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
23817571 2013 Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
23817569 2013 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23042114 2012 Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
22315412 2012 The protein kinase Akt1 regulates the interferon response through phosphorylation of the transcriptional repressor EMSY.
22070912 2012 The C11orf30-LRRC32 region is associated with total serum IgE levels in asthmatic patients.
22036096 2011 A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
21409565 2011 EMSY overexpression disrupts the BRCA2/RAD51 pathway in the DNA-damage response: implications for chromosomal instability/recombination syndromes as checkpoint diseases.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21327470 2011 EMSY and CCND1 amplification in familial breast cancer: from the Ontario site of the Breast Cancer Family Registry.
21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
21072187 2010 Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis.
21064104 2011 Identification of an aggressive prostate cancer predisposing variant at 11q13.
20503266 2011 Allergy and glioma risk: test of association by genotype.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20349280 2011 Expression of EMSY gene in sporadic ovarian cancer.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20068230 2010 Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.
19760754 2010 Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19636701 2010 Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19349984 2009 A common variant on chromosome 11q13 is associated with atopic dermatitis.
19131338 2009 Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation.
19124506 2009 Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
18950845 2009 Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.
18787380 2008 Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18587394 2008 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
18393977 2008 Genetic alterations of CCND1 and EMSY in breast cancers.
18314909 2008 Amplification of 11q13 in ovarian carcinoma.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16615912 2006 Crystal structure of the HP1-EMSY complex reveals an unusual mode of HP1 binding.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16236351 2006 Amplification of EMSY, a novel oncogene on 11q13, in high grade ovarian surface epithelial carcinomas.
16145051 2005 Genomic instability of human mammary epithelial cells overexpressing a truncated form of EMSY.
16029503 2005 Common variation in EMSY and risk of breast and ovarian cancer: a case-control study using HapMap tagging SNPs.
15978617 2005 Crystal structure of the ENT domain of human EMSY.
15947784 2005 Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14651845 2003 EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.