UniProt functional annotation for Q6W2J9



	UniProt functional annotation for Q6W2J9

UniProt code: Q6W2J9.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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}.

Subunit: Interacts with BCL6; the interaction is direct (PubMed:10898795). Forms ternary complexes with BCL6 and SMRT/NCOR2 on selected target genes promoters; potently repress expression (PubMed:23911289, PubMed:18280243). Can interact with HDAC1, HDAC3 and HDAC5 (PubMed:10898795). Interacts with PCGF1; the interaction is direct (PubMed:16943429, PubMed:23523425, PubMed:26687479). Interacts with KDM2B. Component of an approximately 800 kDa repressive BCOR complex at least composed of BCOR, RYBP, PCGF1, RING1, RNF2/RING2, KDM2B and SKP1 (PubMed:16943429). Interacts with CPNE4 (via VWFA domain) (By similarity). Isoform 1 may interact with MLLT3/AF9 (By similarity). {ECO:0000250|UniProtKB:Q8CGN4, ECO:0000269|PubMed:10898795, ECO:0000269|PubMed:16943429, ECO:0000269|PubMed:18280243, ECO:0000269|PubMed:23523425, ECO:0000269|PubMed:23911289, ECO:0000269|PubMed:26687479}.

Subcellular location: Nucleus {ECO:0000269|PubMed:10898795}.

Tissue specificity: Ubiquitously expressed. {ECO:0000269|PubMed:10898795}.

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.

Similarity: Belongs to the BCOR family. {ECO:0000305}.

Sequence caution: Sequence=AAH63536.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Presence of complementary strand sequence in the clone.; Evidence={ECO:0000305}; Sequence=BAA91061.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAB13401.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB85037.1; Type=Frameshift; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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}.


Subunit:		Interacts with BCL6; the interaction is direct (PubMed:10898795). Forms ternary complexes with BCL6 and SMRT/NCOR2 on selected target genes promoters; potently repress expression (PubMed:23911289, PubMed:18280243). Can interact with HDAC1, HDAC3 and HDAC5 (PubMed:10898795). Interacts with PCGF1; the interaction is direct (PubMed:16943429, PubMed:23523425, PubMed:26687479). Interacts with KDM2B. Component of an approximately 800 kDa repressive BCOR complex at least composed of BCOR, RYBP, PCGF1, RING1, RNF2/RING2, KDM2B and SKP1 (PubMed:16943429). Interacts with CPNE4 (via VWFA domain) (By similarity). Isoform 1 may interact with MLLT3/AF9 (By similarity). {ECO:0000250\|UniProtKB:Q8CGN4, ECO:0000269\|PubMed:10898795, ECO:0000269\|PubMed:16943429, ECO:0000269\|PubMed:18280243, ECO:0000269\|PubMed:23523425, ECO:0000269\|PubMed:23911289, ECO:0000269\|PubMed:26687479}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:10898795}.
Tissue specificity:		Ubiquitously expressed. {ECO:0000269\|PubMed:10898795}.
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.
Similarity:		Belongs to the BCOR family. {ECO:0000305}.
Sequence caution:		Sequence=AAH63536.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Presence of complementary strand sequence in the clone.; Evidence={ECO:0000305}; Sequence=BAA91061.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAB13401.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB85037.1; Type=Frameshift; Evidence={ECO:0000305};