Aliases for EMSY Gene

Aliases for EMSY Gene

  • EMSY Transcriptional Repressor, BRCA2 Interacting 2 3 5
  • EMSY, BRCA2 Interacting Transcriptional Repressor 2 3
  • BRCA2-Interacting Transcriptional Repressor EMSY 3 4
  • C11orf30 3 4
  • Chromosome 11 Open Reading Frame 30 2
  • Protein EMSY 3
  • GL002 3
  • EMSY 5

External Ids for EMSY Gene

Previous HGNC Symbols for EMSY Gene

  • C11orf30

Summaries for EMSY Gene

GeneCards Summary for EMSY Gene

EMSY (EMSY Transcriptional Repressor, BRCA2 Interacting) is a Protein Coding gene. Diseases associated with EMSY include Sporadic Breast Cancer and Peanut Allergy. Among its related pathways are Mesodermal Commitment Pathway.

UniProtKB/Swiss-Prot Summary for EMSY Gene

  • Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin (PubMed:14651845). Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2 (PubMed:14651845). Mediates ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:19131338).

Gene Wiki entry for EMSY Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EMSY Gene

Genomics for EMSY Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EMSY Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J076443 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 0.0 -22 4.2 SP1 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 RFX1 SIX5 IKZF1 NFKBIZ EMSY ENSG00000255135 ENSG00000201756 GVQW3
GH11J076542 Promoter 0.3 EPDnew 600.2 +97.4 97372 0.1 EMSY piR-60985-022 piR-61240-054 LRRC32
GH11J076233 Promoter/Enhancer 1.9 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 44.8 -209.5 -209519 4.3 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 LEF1 IKZF1 NFKBIZ KDM1A ZNF692 TRP-AGG2-4 TRP-TGG2-1 piR-36074 EMSY RPS3 WNT11 GVQW3 SNORD15B LINC02761 THAP12
GH11J076860 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 36.5 +416.5 416502 2.8 SP1 HNRNPL TEAD4 ZNF629 IKZF1 CTCF ZNF692 POLR2A BACH1 LARP7 ACER3 EMSY ENSG00000255135 GVQW3 ENSG00000254988 piR-43106-038 B3GNT6
GH11J075552 Promoter/Enhancer 3 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.1 -884.9 -884865 14.2 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 TEAD4 PRDM10 LEF1 IKZF1 SERPINH1 EMSY RPS3 RNF169 LOC105369391 SNORD15B GDPD5 MAP6 KLHL35 RN7SL239P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EMSY on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EMSY

Genomic Locations for EMSY Gene

Genomic Locations for EMSY Gene
chr11:76,444,923-76,553,031
(GRCh38/hg38)
Size:
108,109 bases
Orientation:
Plus strand
chr11:76,155,967-76,264,069
(GRCh37/hg19)
Size:
108,103 bases
Orientation:
Plus strand

Genomic View for EMSY Gene

Genes around EMSY on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMSY Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMSY Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMSY Gene

Proteins for EMSY Gene

  • Protein details for EMSY Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z589-EMSY_HUMAN
    Recommended name:
    BRCA2-interacting transcriptional repressor EMSY
    Protein Accession:
    Q7Z589
    Secondary Accessions:
    • B7ZKT8
    • B7ZKU0
    • B7ZKU2
    • Q17RM7
    • Q4G109
    • Q8NBU6
    • Q8TE50
    • Q9H8I9
    • Q9NRH0

    Protein attributes for EMSY Gene

    Size:
    1322 amino acids
    Molecular mass:
    141468 Da
    Quaternary structure:
    • Homodimer (PubMed:15978617). Interacts with the transactivation domain of BRCA2 (PubMed:14651845). Interacts with CBX1 (via chromoshadow domain) (PubMed:14651845, PubMed:16615912). Interacts with ZMYND11 (PubMed:14651845, PubMed:15947784). Does not interact with CBX3 or CBX5 (PubMed:14651845). Component of a nuclear receptor-mediated transcription complex composed of at least ZNF335, CCAR2 and EMSY; the complex stimulates the transcription of nuclear receptor target genes such as SOX9 and HOXA1 (PubMed:19131338). Within the complex interacts with CCAR2 and ZNF335 (PubMed:19131338). Components of this complex may associate with components of a histone methylation complex to form a complex at least composed of ZNF335, HCFC1, CCAR2, EMSY, MKI67, RBBP5, ASH2L and WDR5 (PubMed:19131338). Within this complex, interacts with ASH2L and RBBP5 (PubMed:19131338).
    SequenceCaution:
    • Sequence=AAF86947.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH29375.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAL65260.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14627.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • Defects in EMSY may be a cause of sporadic breast cancer and higher-grade ovarian cancers. Overexpressed through amplification almost exclusively in sporadic breast cancer (13%) and higher-grade ovarian cancer (17%). Amplification is associated with worse survival, particularly in node-negative breast cancer, suggesting that it may be of prognostic value.
    • Was named EMSY by PubMed:14651845 because the protein sequence contains the word 'SISTER', after the first author's sister, who is a breast cancer nurse.

    Three dimensional structures from OCA and Proteopedia for EMSY Gene

    Alternative splice isoforms for EMSY Gene

neXtProt entry for EMSY Gene

Post-translational modifications for EMSY Gene

  • O-glycosylated during cytokinesis at sites identical or close to phosphorylation sites, this interferes with the phosphorylation status.
  • Glycosylation at Ser228, Ser236, Thr271, Thr501, Thr506, Ser557, Thr1120, and Asn1199
  • Ubiquitination at Lys597, Lys639, Lys950, and Lys953
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for EMSY Gene

Domains & Families for EMSY Gene

Gene Families for EMSY Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EMSY Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EMSY Gene

GenScript: Design optimal peptide antigens:
  • Protein EMSY (EMSY_HUMAN)
genes like me logo Genes that share domains with EMSY: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EMSY Gene

Function for EMSY Gene

Molecular function for EMSY Gene

UniProtKB/Swiss-Prot Function:
Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin (PubMed:14651845). Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2 (PubMed:14651845). Mediates ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:19131338).

Phenotypes From GWAS Catalog for EMSY Gene

Gene Ontology (GO) - Molecular Function for EMSY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16615912
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with EMSY: view
genes like me logo Genes that share phenotypes with EMSY: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMSY

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EMSY Gene

Localization for EMSY Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMSY Gene

Nucleus. Note=Localizes to DNA damage markers in irradiated cells, suggesting that it participates in DNA repair process.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EMSY gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EMSY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with EMSY: view

Pathways & Interactions for EMSY Gene

PathCards logo

SuperPathways for EMSY Gene

genes like me logo Genes that share pathways with EMSY: view

Pathways by source for EMSY Gene

2 BioSystems pathways for EMSY Gene

Gene Ontology (GO) - Biological Process for EMSY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006325 chromatin organization IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with EMSY: view

No data available for SIGNOR curated interactions for EMSY Gene

Drugs & Compounds for EMSY Gene

No Compound Related Data Available

Transcripts for EMSY Gene

mRNA/cDNA for EMSY Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EMSY

Alternative Splicing Database (ASD) splice patterns (SP) for EMSY Gene

No ASD Table

Relevant External Links for EMSY Gene

GeneLoc Exon Structure for
EMSY

Expression for EMSY Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EMSY

Evidence on tissue expression from TISSUES for EMSY Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Intestine(2.1)
  • Skin(2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMSY Gene

Orthologs for EMSY Gene

This gene was present in the common ancestor of animals.

Orthologs for EMSY Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C11orf30 31
  • 100 (a)
OneToOne
C11H11orf30 30
  • 99.87 (n)
Cow
(Bos Taurus)
Mammalia C11orf30 31
  • 97 (a)
OneToOne
C15H11orf30 30
  • 95.85 (n)
Dog
(Canis familiaris)
Mammalia C11orf30 31
  • 97 (a)
OneToOne
C21H11orf30 30
  • 96.04 (n)
Mouse
(Mus musculus)
Mammalia 2210018M11Rik 30 31
  • 92.53 (n)
OneToOne
Emsy 17
Rat
(Rattus norvegicus)
Mammalia RGD1310712 30
  • 91.89 (n)
Oppossum
(Monodelphis domestica)
Mammalia C11orf30 31
  • 91 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 80 (a)
OneToMany
Chicken
(Gallus gallus)
Aves C11orf30 31
  • 85 (a)
OneToOne
C11ORF30 30
  • 80.92 (n)
Lizard
(Anolis carolinensis)
Reptilia C11orf30 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c11orf30 30
  • 71.2 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:56039 30
  • 63.45 (n)
C10H11orf30 31
  • 62 (a)
OneToOne
wufj36b04 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10497 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG15356 31
  • 21 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToOne
Species where no ortholog for EMSY was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for EMSY Gene

ENSEMBL:
Gene Tree for EMSY (if available)
TreeFam:
Gene Tree for EMSY (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EMSY: view image

Paralogs for EMSY Gene

(1) SIMAP similar genes for EMSY Gene using alignment to 1 proteins:

  • EMSY_HUMAN
genes like me logo Genes that share paralogs with EMSY: view

No data available for Paralogs for EMSY Gene

Variants for EMSY Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EMSY Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
712727 Benign: not provided 76,544,410(+) T/G MISSENSE_VARIANT
724258 Benign: not provided 76,544,468(+) G/A SYNONYMOUS_VARIANT
726525 Benign: not provided 76,451,851(+) C/T INTRON_VARIANT
781965 Benign: not provided 76,523,148(+) T/C INTRON_VARIANT
786203 Benign: not provided 76,451,964(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for EMSY Gene

Structural Variations from Database of Genomic Variants (DGV) for EMSY Gene

Variant ID Type Subtype PubMed ID
esv2744790 CNV deletion 23290073
esv3352000 CNV insertion 20981092
esv3548016 CNV deletion 23714750
esv3626871 CNV loss 21293372
nsv1050713 CNV loss 25217958
nsv528623 CNV loss 19592680

Variation tolerance for EMSY Gene

Residual Variation Intolerance Score: 2.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMSY Gene

Human Gene Mutation Database (HGMD)
EMSY
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMSY

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMSY Gene

Disorders for EMSY Gene

MalaCards: The human disease database

(10) MalaCards diseases for EMSY Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
sporadic breast cancer
  • sporadic breast carcinoma
peanut allergy
  • allergy to peanuts
fallopian tube endometrioid adenocarcinoma
  • endometrioid carcinoma of the fallopian tube
epiphyseal dysplasia, multiple, 2
  • edm2
multiple epiphyseal dysplasia due to collagen 9 anomaly
- elite association - COSMIC cancer census association via MalaCards
Search EMSY in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with EMSY: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EMSY Gene

Publications for EMSY Gene

  1. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. (PMID: 14651845) Hughes-Davies L … Kouzarides T (Cell 2003) 2 3 4 23
  2. Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69. (PMID: 15947784) Ekblad CM … Itzhaki LS (EMBO reports 2005) 3 4 23
  3. The protein kinase Akt1 regulates the interferon response through phosphorylation of the transcriptional repressor EMSY. (PMID: 22315412) Ezell SA … Tsichlis PN (Proceedings of the National Academy of Sciences of the United States of America 2012) 2 3
  4. Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers. (PMID: 19636701) Brown LA … Huntsman DG (Breast cancer research and treatment 2010) 3 23
  5. Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation. (PMID: 19131338) Garapaty S … Samuels HH (The Journal of biological chemistry 2009) 3 4

Products for EMSY Gene

Sources for EMSY Gene