Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	56946
Gene name	EMSY transcriptional repressor, BRCA2 interacting
Gene symbol	EMSY
Synonyms (NCBI Gene)	C11orf30GL002
Chromosome	11
Chromosome location	11q13.5

116

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
MIRT441089	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT503078	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT503077	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT480524	hsa-miR-3609	PAR-CLIP	20371350
MIRT480523	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT480522	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT480521	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT480520	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT480519	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT480518	hsa-miR-329-5p	PAR-CLIP	20371350
MIRT480517	hsa-miR-657	PAR-CLIP	20371350
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
MIRT441089	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT503078	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT503077	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT480524	hsa-miR-3609	PAR-CLIP	20371350
MIRT480523	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT480522	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT480521	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT480520	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT480519	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT480518	hsa-miR-329-5p	PAR-CLIP	20371350
MIRT480517	hsa-miR-657	PAR-CLIP	20371350
MIRT503082	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT503081	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT441088	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT503080	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT503079	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT441089	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT503078	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT503077	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT480524	hsa-miR-3609	PAR-CLIP	21572407
MIRT480523	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT480522	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT480521	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT480520	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT480519	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT480518	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT480517	hsa-miR-657	PAR-CLIP	21572407
MIRT503082	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT503081	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT441088	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT503080	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT503079	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT441089	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT503078	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT503077	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT480524	hsa-miR-3609	PAR-CLIP	21572407
MIRT480523	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT480522	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT480521	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT480520	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT480519	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT480518	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT480517	hsa-miR-657	PAR-CLIP	21572407
MIRT503082	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT503081	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT441088	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT503080	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT503079	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT441089	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT503078	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT503077	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT480524	hsa-miR-3609	PAR-CLIP	22012620
MIRT480523	hsa-miR-548ah-5p	PAR-CLIP	22012620
MIRT480522	hsa-miR-4796-3p	PAR-CLIP	22012620
MIRT480521	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT480520	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT480519	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT480518	hsa-miR-329-5p	PAR-CLIP	22012620
MIRT480517	hsa-miR-657	PAR-CLIP	22012620
MIRT503082	hsa-miR-17-5p	PAR-CLIP	24398324
MIRT503081	hsa-miR-519d-3p	PAR-CLIP	24398324
MIRT441088	hsa-miR-20a-5p	PAR-CLIP	24398324
MIRT503080	hsa-miR-526b-3p	PAR-CLIP	24398324
MIRT503079	hsa-miR-20b-5p	PAR-CLIP	24398324
MIRT441089	hsa-miR-106b-5p	PAR-CLIP	24398324
MIRT503078	hsa-miR-106a-5p	PAR-CLIP	24398324
MIRT503077	hsa-miR-93-5p	PAR-CLIP	24398324
MIRT480524	hsa-miR-3609	PAR-CLIP	24398324
MIRT480523	hsa-miR-548ah-5p	PAR-CLIP	24398324
MIRT480522	hsa-miR-4796-3p	PAR-CLIP	24398324
MIRT480521	hsa-miR-519a-3p	PAR-CLIP	24398324
MIRT480520	hsa-miR-519b-3p	PAR-CLIP	24398324
MIRT480519	hsa-miR-519c-3p	PAR-CLIP	24398324
MIRT480518	hsa-miR-329-5p	PAR-CLIP	24398324
MIRT480517	hsa-miR-657	PAR-CLIP	24398324
MIRT480524	hsa-miR-3609	PAR-CLIP	23592263
MIRT480523	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT480522	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT480521	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT480520	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT480519	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT480518	hsa-miR-329-5p	PAR-CLIP	23592263
MIRT480517	hsa-miR-657	PAR-CLIP	23592263
MIRT441089	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT441088	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT441089	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT503082	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT503079	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT503077	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT503081	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT728166	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT728167	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT728165	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT728164	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT441088	hsa-miR-20a-5p	HITS-CLIP	22473208

Show/Hide all (1)

Transcription factor	Regulation	Reference
ETS1	Unknown	24582497

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
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0042802	Function	Identical protein binding	IEA

MIM	HGNC	e!Ensembl
608574	18071	ENSG00000158636

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

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EMSY-related disorder	Uncertain significance; Benign; Likely benign	rs2497725604, rs924800024, rs3753051, rs569041290, rs2508740	RCV003394500 RCV003422496 RCV003984643 RCV003901579 RCV003979519
Hepatocellular carcinoma	Benign	rs2508740	RCV005937089

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Dermatitis Atopic	Associate	31158401
Disease	Associate	21409565
Drug Hypersensitivity	Stimulate	31154673
Eosinophilic Esophagitis	Associate	25407941
Graft vs Host Disease	Associate	30640700
Hereditary Breast and Ovarian Cancer Syndrome	Associate	16029503, 16615912, 28738860, 28824300, 31154673
Hereditary Breast and Ovarian Cancer Syndrome	Stimulate	21409565
Ige Responsiveness Atopic	Associate	25546184
Immunologic Deficiency Syndromes	Associate	21409565
Lung Neoplasms	Associate	28824300
Lymphatic Metastasis	Associate	24641409
Neoplasms	Stimulate	24641409
Neoplasms	Associate	28099152, 28824300
Non Radiographic Axial Spondyloarthritis	Stimulate	28742699
Ovarian Neoplasms	Associate	14651845, 16029503, 28738860, 31154673
Prostatic Neoplasms	Associate	32800727
Recombinant chromosome 8 syndrome	Stimulate	31154673

EMSY (EMSY transcriptional repressor, BRCA2 interacting)