EMSY (EMSY transcriptional repressor, BRCA2 interacting)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56946
Gene name Gene Name - the full gene name approved by the HGNC.
EMSY transcriptional repressor, BRCA2 interacting
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EMSY
Synonyms (NCBI Gene) Gene synonyms aliases
C11orf30, GL002
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.5
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(116)
miRTarBase ID miRNA Experiments Reference
MIRT503082 hsa-miR-17-5p PAR-CLIP 20371350
MIRT503081 hsa-miR-519d-3p PAR-CLIP 20371350
MIRT441088 hsa-miR-20a-5p PAR-CLIP 20371350
MIRT503080 hsa-miR-526b-3p PAR-CLIP 20371350
MIRT503079 hsa-miR-20b-5p PAR-CLIP 20371350
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
ETS1 Unknown 24582497
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16615912, 25416956, 32296183, 35512704
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
GO:0005654 Component Nucleoplasm IDA
GO:0006281 Process DNA repair IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608574 18071 ENSG00000158636
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Q7Z589
Protein name BRCA2-interacting transcriptional repressor EMSY
Protein 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
PDB 1UTU , 1UZ3 , 2FMM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03735 ENT 17 → 86 ENT domain Family
Sequence 
MPVVWPTLLDLSRDECKRILRKLELEAYAGVISALRAQGDLTKEKKDLLGELSKVLSIST
ERHRAEVRRAVNDERLTTIAHNMSGPNSSSEWSIEGRRLVPLMPRLVPQTAFTVTANAVA
NAAIQHNASLPVPAETGSKEVVCYSYTSTTSTPTSTPVPSGSIATVKSPRPASPASNVVV
LPSGSTVYVKSVSCSDEDEKPRKRRRTNSSSSSPVVLKEVPKAVVPVSKTITVPVSGSPK
MSNIMQSIANSLPPHMSPVKITFTKPSTQTTNTTTQKVIIVTTSPSSTFVPNILSKSHNY
AAVTKLVPTSVIASTTQKPPVVITASQSSLVSNSSSGSSSSTPSPIPNTVAVTAVVSSTP
SVVMSTVAQGVSTSAIKMASTRLPSPKSLVSAPTQILAQFPKQHQQSPKQQLYQVQQQTQ
QQVAQPSPVSHQQQPQQSPLPPGIKPTIQIKQESGVKIITQQVQPSKILPKPVTATLPTS
SNSPIMVVSSNGAIMTTKLVTTPTGTQATYTRPTVSPSIGRMAATPGAATYVKTTSGSII
TVVPKSLATLGGKIISSNIVSGTTTKITTIPMTSKPNVIVVQKTTGKGTTIQGLPGKNVV
TTLLNAGGEKTIQTVPTGAKPAILTATRPITKMIVTQPKGIGSTVQPAAKIIPTKIVYGQ
QGKTQVLIKPKPVTFQATVVSEQTRQLVTETLQQASRVAEAGNSSIQEGKEEPQNYTDSS
SSSTESSQSSQDSQPVVHVIASRRQDWSEHEIAMETSPTIIYQDVSSESQSATSTIKALL
ELQQTTVKEKLESKPRQPTIDLSQMAVPIQMTQEKRHSPESPSIAVVESELVAEYITTER
TDEGTEVAFPLLVSHRSQPQQPSQPQRTLLQHVAQSQTATQTSVVVKSIPASSPGAITHI
MQQALSSHTAFTKHSEELGTEEGEVEEMDTLDPQTGLFYRSALTQSQSAKQQKLSQPPLE
QTQLQVKTLQCFQTKQKQTIHLQADQLQHKLPQMPQLSIRHQKLTPLQQEQAQPKPDVQH
TQHPMVAKDRQLPTLMAQPPQTVVQVLAVKTTQQLPKLQQAPNQPKIYVQPQTPQSQMSL
PASSEKQTASQVEQPIITQGSSVTKITFEGRQPPTVTKITGGSSVPKLTSPVTSISPIQA
SEKTAVSDILKMSLMEAQIDTNVEHMIVDPPKKALATSMLTGEAGSLPSTHMVVAGMANS
TPQQQKCRESCSSPSTVGSSLTTRKIDPPAVPATGQFMRIQNVGQKKAEESPAEIIIQAI
PQYAIPCHSSSNVVVEPSGLLELNNFTSQQLDDEETAMEQDIDSSTEDGTEPSPSQSSAE
RS
Sequence length 1322
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (14)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Allergic Sensitization Allergic sensitization N/A N/A GWAS
Alopecia Areata Alopecia areata N/A N/A GWAS
Asthma Asthma (moderate or severe), Asthma (childhood onset), Asthma onset (childhood vs adult), Nonatopic asthma, Atopic asthma, Asthma (age of onset), Pediatric asthma, Age of onset of childhood onset asthma, Asthma (adult onset), Asthma in any disease, Asthma N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Show/Hide Text Mining Associations (27)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 26119467, 30373671, 33213402
Autoimmune Diseases Associate 25407941
Breast Neoplasms Associate 14651845, 16029503, 20003265, 20473280, 21409565, 24641409, 26841866, 28738860
Carcinogenesis Associate 28742699
Carcinoma Non Small Cell Lung Associate 28824300
Carcinoma Ovarian Epithelial Associate 30640700
Chromosomal Instability Stimulate 21409565
Colitis Ulcerative Associate 21830272
Colonic Diseases Associate 21830272
Crohn Disease Associate 21830272, 23665963