EMSY

EMSY is a protein that in humans is encoded by the EMSY gene.^[5]

EMSY
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UTU, 1UZ3, 2FMM
Identifiers
Aliases	EMSY, GL002, C11orf30, BRCA2 interacting transcriptional repressor, EMSY transcriptional repressor, BRCA2 interacting
External IDs	OMIM: 608574; MGI: 1924203; HomoloGene: 32465; GeneCards: EMSY; OMA:EMSY - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.5 Start 76,444,923 bp[1] End 76,553,025 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 E1 Start 98,236,344 bp[2] End 98,305,990 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone Achilles tendon ganglionic eminence corpus callosum cartilage tissue epithelium of colon right uterine tube endothelial cell right hemisphere of cerebellum left ovary Top expressed in tail of embryo genital tubercle zygote secondary oocyte Rostral migratory stream neural layer of retina ganglionic eminence internal carotid artery superior frontal gyrus vas deferens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein homodimerization activity Cellular component nucleus nucleoplasm Biological process regulation of transcription, DNA-templated DNA repair transcription, DNA-templated cellular response to DNA damage stimulus chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56946 233545 Ensembl ENSG00000158636 ENSMUSG00000035401 UniProt Q7Z589 Q8BMB0 RefSeq (mRNA) NM_001300942 NM_001300943 NM_001300944 NM_020193 NM_172280 NM_001381867 NM_001381868 NM_001381869 NM_001381870 RefSeq (protein) NP_001287871 NP_001287872 NP_001287873 NP_064578 NP_758484 NP_001368796 NP_001368797 NP_001368798 NP_001368799 Location (UCSC) Chr 11: 76.44 – 76.55 Mb Chr 7: 98.24 – 98.31 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

EMSY has been shown to associate with atopy and susceptibility to poly-sensitisation.^[6]

Interactions

EMSY has been shown to interact with ZMYND11,^[7] BRCA2^[7] and CBX1.^[7]