EMSY Gene (Protein Coding)

EMSY Transcriptional Repressor, BRCA2 Interacting

GC11P076445
GIFtS:
32

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

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. 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

Additional gene information 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 for EMSY Gene

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 774 0.0 -22 4.2 SIN3A ZNF24 SP1 SIX5 MLX FOXA1 RBPJ POLR2A HDAC2 NR2F6 EMSY ENSG00000255135 MAP6 ENSG00000255434 ENSG00000255326
GH11J076542 Promoter 0.3 EPDnew 750.2 +97.4 97372 0.1 EMSY piR-60985-022 piR-61240-054
GH11J076233 Promoter/Enhancer 1.9 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 59.5 -209.5 -209519 4.3 GTF3C2 ZNF785 ZNF24 ZBTB40 ZBTB6 RBPJ POLR2A ZNF217 MIXL1 ZNF362 TRP-AGG2-4 TRP-TGG2-1 piR-36074 EMSY RPS3 WNT11 GVQW3 SNORD15B ENSG00000255434 KLHL35
GH11J075767 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 34.2 -675.5 -675475 3.1 SP1 CTCF SREBF1 SIX5 MLX RBPJ SMARCE1 USF2 NR2F6 MYC DGAT2 LOC283214 EMSY RPS3 ENSG00000255434 SERPINH1 MAP6 ENSG00000255326 SNORD15B ENSG00000254814
GH11J075552 Promoter/Enhancer 3 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 24.2 -884.9 -884865 14.2 ZNF785 SP1 ZBTB40 RBPJ SMARCE1 POLR2A NR2F6 ATF1 CREB1 MIXL1 SERPINH1 RPS3 RNF169 SNORD15B EMSY RN7SL239P ENSG00000255326 GDPD5 MAP6 KLHL35
- 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for EMSY Gene

Genomic Locations for EMSY Gene
chr11:76,444,923-76,553,025
(GRCh38/hg38)
Size:
108,103 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 Structure • Gene Density

RefSeq DNA sequence for EMSY Gene

Proteins for EMSY Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 author's 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

    UniProtKB/Swiss-Prot:

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

Other Protein References for EMSY Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

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: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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids 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
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for EMSY Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EMSY Gene

(4) REFSEQ mRNAs :
(20) Additional mRNA sequences :
(188) Selected AceView cDNA sequences:
(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

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
EMSY

Expression for EMSY Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

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 33
  • 100 (a)
 OneToOne
C11H11orf30 32
  • 99.87 (n)
cow
(Bos Taurus)
 Mammalia C11orf30 33
  • 97 (a)
 OneToOne
C15H11orf30 32
  • 95.85 (n)
dog
(Canis familiaris)
 Mammalia C11orf30 33
  • 97 (a)
 OneToOne
C21H11orf30 32
  • 96.04 (n)
mouse
(Mus musculus)
 Mammalia 2210018M11Rik 33 32
  • 92.53 (n)
 OneToOne
Emsy 17
rat
(Rattus norvegicus)
 Mammalia RGD1310712 32
  • 91.89 (n)
oppossum
(Monodelphis domestica)
 Mammalia C11orf30 33
  • 91 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 87 (a)
 OneToMany
-- 33
  • 80 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves C11orf30 33
  • 85 (a)
 OneToOne
C11ORF30 32
  • 80.92 (n)
lizard
(Anolis carolinensis)
 Reptilia C11orf30 33
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia c11orf30 32
  • 71.2 (n)
zebrafish
(Danio rerio)
 Actinopterygii zgc:56039 32
  • 63.45 (n)
C10H11orf30 33
  • 62 (a)
 OneToOne
wufj36b04 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10497 32
fruit fly
(Drosophila melanogaster)
 Insecta CG15356 33
  • 21 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 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)
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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for EMSY Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000042123 -- 76,551,221(+) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1000065390 -- 76,477,588(+) T/G intron_variant
rs1000073454 -- 76,456,962(+) G/A intron_variant
rs1000119090 -- 76,500,733(+) G/A intron_variant
rs1000127803 -- 76,450,731(+) A/G 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)

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

(5) MalaCards diseases for EMSY Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
sporadic breast cancer
  • sporadic breast carcinoma
peanut allergy
  • allergy to peanuts
epiphyseal dysplasia, multiple, 2
  • edm2
breast cancer
  • breast cancer, familial
ovarian cancer
  • ovarian cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search EMSY in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EMSY

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 56
  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 56
  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 56
  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 56
  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 56

ExternalLinks

View latest publications for EMSY gene in Mastermind

Products for EMSY Gene

  • Addgene plasmids for EMSY

Sources for EMSY Gene