Gene
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.
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
Transcription factor Regulation Reference
ETS1 Unknown 24582497
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16615912, 25416956
GO:0005654 Component Nucleoplasm IBA 21873635
GO:0005654 Component Nucleoplasm IDA
GO:0006281 Process DNA repair IEA
GO:0006325 Process Chromatin organization IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608574 18071 ENSG00000158636
Protein
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
ERHRAEVRRAVNDERLTTIAHNMSGP
NSSSEWSIEGRRLVPLMPRLVPQTAFTVTANAVA
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
19636701
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
19636701
Dermatitis Dermatitis, Atopic rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 23042114
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
19636701
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma, Childhood asthma 31036433 ClinVar, GWAS
Alopecia Areata Alopecia Areata GWAS
Eczema Eczema GWAS
Crohn Disease Crohn Disease GWAS
Associations from Text Mining
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