BCOR
entrez
54880
canonical
uniprot
Q6W2J9
canonical
ensembl
ENSG00000183337
resolver
ensp
ENSP00000345923
resolver
ensp
ENSP00000367705
resolver
ensp
ENSP00000367716
resolver
ensp
ENSP00000380512
resolver
ensp
ENSP00000384485
resolver
ensp
ENSP00000387552
resolver
ensp
ENSP00000403823
resolver
ensp
ENSP00000483217
resolver
ensp
ENSP00000499892
resolver
ensp
ENSP00000500446
resolver
ensp
ENSP00000505507
resolver
ensp
ENSP00000505761
resolver
ensp
ENSP00000577786
resolver
ensp
ENSP00000577787
resolver
ensp
ENSP00000577788
resolver
ensp
ENSP00000607710
resolver
ensp
ENSP00000607711
resolver
ensp
ENSP00000607712
resolver
ensp
ENSP00000607713
resolver
ensp
ENSP00000607714
resolver
ensp
ENSP00000607715
resolver
enst
ENST00000427012
resolver
enst
ENST00000442018
resolver
genesymbol
BCOR
resolver
genesymbol_syn
KIAA1575
resolver
hgnc
HGNC:20893
resolver
uniprot
D3DWB3
resolver
uniprot
D3DWB4
resolver
uniprot
H7BZ37
resolver
uniprot
H7C231
resolver
uniprot
Q29RF6
resolver
uniprot
Q6P4B6
resolver
uniprot
Q7Z2K7
resolver
uniprot
Q8TEB4
resolver
uniprot
Q96DB3
resolver
uniprot
Q9H232
resolver
uniprot
Q9H233
resolver
uniprot
Q9HCJ7
resolver
uniprot
Q9NXF2
resolver
uniprot_entry
BCOR_HUMAN
resolver
uniprot_entry
H7BZ37_HUMAN
resolver
uniprot_entry
H7C231_HUMAN
resolver
uniprot_sec
D3DWB3
resolver
uniprot_sec
D3DWB4
resolver
uniprot_sec
Q29RF6
resolver
uniprot_sec
Q6P4B6
resolver
uniprot_sec
Q7Z2K7
resolver
uniprot_sec
Q8TEB4
resolver
uniprot_sec
Q96DB3
resolver
uniprot_sec
Q9H232
resolver
uniprot_sec
Q9H233
resolver
uniprot_sec
Q9HCJ7
resolver
uniprot_sec
Q9NXF2
resolver
amino_acid_sequence
MLSATPLYGNVHSWMNSERVRMCGASEDRKILVNDGDASKARLELREENPLNHNVVDASTAHRIDGLAALSMDRTGLIREGLRVPGNIVYSSLCGLGSEKGREAATSTLGGLGFSSERNPEMQFKPNTPETVEASAVSGKPPNGFSAIYKTPPGIQKSAVATAEALGLDRPASDKQSPLNINGASYLRLPWVNPYMEGATPAIYPFLDSPNKYSLNMYKALLPQQSYSLAQPLYSPVCTNGERFLYLPPPHYVGPHIPSSLASPMRLSTPSASPAIPPLVHCADKSLPWKMGVSPGNPVDSHAYPHIQNSKQPRVPSAKAVTSGLPGDTALLLPPSPRPSPRVHLPTQPAADTYSEFHKHYARISTSPSVALSKPYMTVSSEFPAARLSNGKYPKAPEGGEGAQPVPGHARKTAVQDRKDGSSPPLLEKQTVTKDVTDKPLDLSSKVVDVDASKADHMKKMAPTVLVHSRAGSGLVLSGSEIPKETLSPPGNGCAIYRSEIISTAPSSWVVPGPSPNEENNGKSMSLKNKALDWAIPQQRSSSCPRMGGTDAVITNVSGSVSSAGRPASASPAPNANADGTKTSRSSVETTPSVIQHVGQPPATPAKHSSSTSSKGAKASNPEPSFKANENGLPPSSIFLSPNEAFRSPPIPYPRSYLPYPAPEGIAVSPLSLHGKGPVYPHPVLLPNGSLFPGHLAPKPGLPYGLPTGRPEFVTYQDALGLGMVHPMLIPHTPIEITKEEKPERRSRSHERARYEDPTLRNRFSEILETSSTKLHPDVPTDKNLKPNPNWNQGKTVVKSDKLVYVDLLREEPDAKTDTNVSKPSFAAESVGQSAEPPKPSVEPALQQHRDFIALREELGRISDFHETYTFKQPVFTVSKDSVLAGTNKENLGLPVSTPFLEPPLGSDGPAVTFGKTQEDPKPFCVGSAPPSVDVTPTYTKDGADEAESNDGKVLKPKPSKLAKRIANSAGYVGDRFKCVTTELYADSSQLSREQRALQMEGLQEDSILCLPAAYCERAMMRFSELEMKEREGGHPATKDSEMCKFSPADWERLKGNQDKKPKSVTLEEAIAEQNESERCEYSVGNKHRDPFEAPEDKDLPVEKYFVERQPVSEPPADQVASDMPHSPTLRVDRKRKVSGDSSHTETTAEEVPEDPLLKAKRRRVSKDDWPEREMTNSSSNHLEDPHYSELTNLKVCIELTGLHPKKQRHLLHLRERWEQQVSAADGKPGRQSRKEVTQATQPEAIPQGTNITEEKPGRKRAEAKGNRSWSEESLKPSDNEQGLPVFSGSPPMKSLSSTSAGGKKQAQPSCAPASRPPAKQQKIKENQKTDVLCADEEEDCQAASLLQKYTDNSEKPSGKRLCKTKHLIPQESRRGLPLTGEYYVENADGKVTVRRFRKRPEPSSDYDLSPAKQEPKPFDRLQQLLPASQSTQLPCSSSPQETTQSRPMPPEARRLIVNKNAGETLLQRAARLGYEEVVLYCLENKICDVNHRDNAGYCALHEACARGWLNIVRHLLEYGADVNCSAQDGTRPLHDAVENDHLEIVRLLLSYGADPTLATYSGRTIMKMTHSELMEKFLTDYLNDLQGRNDDDASGTWDFYGSSVCEPDDESGYDVLANPPGPEDQDDDDDAYSDVFEFEFSETPLLPCYNIQVSVAQGPRNWLLLSDVLKKLKMSSRIFRCNFPNVEIVTIAEAEFYRQVSASLLFSCSKDLEAFNPESKELLDLVEFTNEIQTLLGSSVEWLHPSDLASDNYW
uniprot
proteins
disease_involvement
DISEASE: Microphthalmia, syndromic, 2 (MCOPS2) [MIM:300166]: A very rare multiple congenital anomaly syndrome characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length). Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269|PubMed:15004558}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 'Lys-4' (H3K4me3) and 'Lys-36' (H3K36me2). {ECO:0000269|PubMed:10898795, ECO:0000269|PubMed:15004558, ECO:0000269|PubMed:18280243, ECO:0000269|PubMed:19578371, ECO:0000269|PubMed:23911289}.
uniprot
proteins
mass_dalton
192189
uniprot
proteins
mutagenesis
MUTAGEN 507; /note="S->A: Abolishes interaction with BCL6 and inhibits BCL6 corepression activity; when associated with A-509 and A-511."; /evidence="ECO:0000269|PubMed:18280243"; MUTAGEN 508; /note="S->A: Diminishes interaction with BCL6."; /evidence="ECO:0000269|PubMed:18280243"; MUTAGEN 509; /note="W->A: Abolishes interaction with BCL6 and inhibits BCL6 corepression activity; when associated with A-507 and A-511."; /evidence="ECO:0000269|PubMed:18280243"; MUTAGEN 511; /note="V->A: Abolishes interaction with BCL6 and inhibits BCL6 corepression activity; when associated with A-507 and A-509."; /evidence="ECO:0000269|PubMed:18280243"; MUTAGEN 1706; /note="L->D,R: Slightly inhibits interaction with PCGF1."; /evidence="ECO:0000269|PubMed:23523425
uniprot
proteins
protein_family
BCOR family
uniprot
proteins
pubmed
10898795
uniprot
proteins
pubmed
10997877
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15004558
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16943429
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18280243
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19578371
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23523425
uniprot
proteins
pubmed
23911289
uniprot
proteins
pubmed
26687479
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
1755
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10898795}.
uniprot
proteins