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Aliases for EMSY Gene

Aliases for EMSY Gene

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

External Ids for EMSY Gene

Previous HGNC Symbols for EMSY Gene

  • C11orf30

Summaries for EMSY Gene

GeneCards Summary for EMSY Gene

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

UniProtKB/Swiss-Prot for EMSY Gene

  • Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin. Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2. As part of a histone H3-specific methyltransferase complex may mediate ligand-dependent transcriptional activation by nuclear hormone receptors.

Gene Wiki entry for EMSY Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMSY Gene

Genomics for EMSY Gene

Regulatory Elements for EMSY Gene

Enhancers for EMSY Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G076370 1.1 Ensembl ENCODE 10.5 -73.6 -73575 1.3 HDGF FOXA2 EGR1 ZSCAN5C RCOR1 FOS ETV6 ZNF362 JUNB ZNF217 ENSG00000255135 EMSY LOC100506127 THAP12 LOC105369395
GH11G076385 0.8 ENCODE 10.7 -58.9 -58874 1.1 ARID4B RAD21 YY1 SCRT2 FOS MIXL1 THAP11 SP5 SSRP1 MIER3 EMSY ENSG00000255135 ENSG00000272301 LOC100506127
GH11G076390 0.2 ENCODE 11.1 -53.7 -53652 0.7 LOC100506127 EMSY ENSG00000255135 ENSG00000271757 ENSG00000272301
GH11G076443 1.4 ENCODE dbSUPER 0.7 -0.2 -221 3.2 HDGF PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 EMSY ENSG00000255135
GH11G076448 0.7 ENCODE dbSUPER 0.7 +3.8 3789 0.2 GLIS1 POU5F1 EMSY PIR57504
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EMSY on UCSC Golden Path with GeneCards custom track

Promoters for EMSY Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000042297 -23 3001 HDGF PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1

Genomic Location for EMSY Gene

Chromosome:
11
Start:
76,444,923 bp from pter
End:
76,553,025 bp from pter
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. Interacts with the transactivation domain of BRCA2. Interacts with the chromoshadow domain of CBX1 and with ZMYND11. Does not interact with CBX3 or CBX5. Part of a complex composed at least of ASCL2, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity. Interacts with ZMYND11.
    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 authors sister, who is a breast cancer nurse.
    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};

    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.
  • Ubiquitination at isoforms=2, 4, 5, 6, 7597, Lys639, isoforms=2, 4, 5, 6, 7950, and isoforms=2, 4, 5, 6, 7953
  • Glycosylation at isoforms=2, 4, 5, 6, 7228, Ser236, Thr271, Thr501, Thr506, Ser557, and isoforms=4, 5, 6, 71120
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EMSY Gene

Domains & Families for EMSY Gene

Gene Families for EMSY Gene

Protein Domains for EMSY Gene

Suggested Antigen Peptide Sequences for EMSY Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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. Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2. As part of a histone H3-specific methyltransferase complex may mediate ligand-dependent transcriptional activation by nuclear hormone receptors.

Gene Ontology (GO) - Molecular Function for EMSY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042803 protein homodimerization activity 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

Inhibitory RNA Products

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

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

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0016569 covalent chromatin modification 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

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for EMSY Gene

GeneLoc Exon Structure for
EMSY
ECgene alternative splicing isoforms for
EMSY

Expression for EMSY Gene

NURSA nuclear receptor signaling pathways regulating expression of EMSY Gene:

EMSY

Evidence on tissue expression from TISSUES for EMSY Gene

  • Nervous system(4.3)
  • Liver(4.2)
No Expression Related Data Available

Primer Products

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 35
  • 100 (a)
OneToOne
C11H11orf30 34
  • 99.87 (n)
cow
(Bos Taurus)
Mammalia C11orf30 35
  • 97 (a)
OneToOne
C15H11orf30 34
  • 95.85 (n)
dog
(Canis familiaris)
Mammalia C11orf30 35
  • 97 (a)
OneToOne
C21H11orf30 34
  • 96.04 (n)
mouse
(Mus musculus)
Mammalia 2210018M11Rik 34 35
  • 92.53 (n)
Emsy 16
rat
(Rattus norvegicus)
Mammalia RGD1310712 34
  • 91.89 (n)
oppossum
(Monodelphis domestica)
Mammalia C11orf30 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves C11orf30 35
  • 85 (a)
OneToOne
C11ORF30 34
  • 80.92 (n)
lizard
(Anolis carolinensis)
Reptilia C11orf30 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c11orf30 34
  • 71.2 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:56039 34
  • 63.45 (n)
C10H11orf30 35
  • 62 (a)
OneToOne
wufj36b04 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10497 34
fruit fly
(Drosophila melanogaster)
Insecta CG15356 35
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToOne
Species where no ortholog for EMSY was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for EMSY Gene

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

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 from dbSNP and Humsavar for EMSY Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000042123 -- 76,551,221(+) GTGAT(C/T)ACTGT nc-transcript-variant, utr-variant-3-prime
rs1000065390 -- 76,477,588(+) AGGAG(G/T)AATTT intron-variant
rs1000073454 -- 76,456,962(+) TGGTC(A/G)AAGGA intron-variant
rs1000119090 -- 76,500,733(+) TGACT(A/G)TAAGT intron-variant
rs1000127803 -- 76,450,731(+) AAGCA(A/G)TCCTC intron-variant

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)

Relevant External Links for EMSY Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMSY

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

Disorders for EMSY Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
sporadic breast cancer
  • sporadic breast carcinoma
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards
Search EMSY in MalaCards View complete list of genes associated with diseases

Relevant External Links for EMSY

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EMSY
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 22 64
  2. Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69. (PMID: 15947784) Ekblad C.M.S. … Itzhaki L.S. (EMBO Rep. 2005) 3 4 22 64
  3. The protein kinase Akt1 regulates the interferon response through phosphorylation of the transcriptional repressor EMSY. (PMID: 22315412) Ezell S.A. … Tsichlis P.N. (Proc. Natl. Acad. Sci. U.S.A. 2012) 2 3 64
  4. Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers. (PMID: 19636701) Brown L.A. … Huntsman D.G. (Breast Cancer Res. Treat. 2010) 3 22 64
  5. Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation. (PMID: 19131338) Garapaty S. … Samuels H.H. (J. Biol. Chem. 2009) 3 4 64

Products for EMSY Gene

Sources for EMSY Gene

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