CBX2
entrez
84733
canonical
uniprot
Q14781
canonical
ensembl
ENSG00000173894
resolver
ensp
ENSP00000269399
resolver
ensp
ENSP00000308750
resolver
genesymbol
CBX2
resolver
hgnc
HGNC:1552
resolver
uniprot
Q0VDA5
resolver
uniprot
Q9BTB1
resolver
uniprot_entry
CBX2_HUMAN
resolver
uniprot_sec
Q0VDA5
resolver
uniprot_sec
Q9BTB1
resolver
amino_acid_sequence
MEELSSVGEQVFAAECILSKRLRKGKLEYLVKWRGWSSKHNSWEPEENILDPRLLLAFQKKEHEKEVQNRKRGKRPRGRPRKLTAMSSCSRRSKLKEPDAPSKSKSSSSSSSSTSSSSSSDEEDDSDLDAKRGPRGRETHPVPQKKAQILVAKPELKDPIRKKRGRKPLPPEQKATRRPVSLAKVLKTARKDLGAPASKLPPPLSAPVAGLAALKAHAKEACGGPSAMATPENLASLMKGMASSPGRGGISWQSSIVHYMNRMTQSQAQAASRLALKAQATNKCGLGLDLKVRTQKGELGMSPPGSKIPKAPSGGAVEQKVGNTGGPPHTHGASRVPAGCPGPQPAPTQELSLQVLDLQSVKNGMPGVGLLARHATATKGVPATNPAPGKGTGSGLIGASGATMPTDTSKSEKLASRAVAPPTPASKRDCVKGSATPSGQESRTAPGEARKAATLPEMSAGEESSSSDSDPDSASPPSTGQNPSVSVQTSQDWKPTRSLIEHVFVTDVTANLITVTVKESPTSVGFFNLRHY
uniprot
proteins
disease_involvement
DISEASE: 46,XY sex reversal 5 (SRXY5) [MIM:613080]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. {ECO:0000269|PubMed:19361780}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:21282530). Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) or at 'Lys-27' (H3K27me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity). Involved in sexual development, acting as activator of NR5A1 expression (PubMed:19361780). {ECO:0000250|UniProtKB:P30658, ECO:0000269|PubMed:19361780, ECO:0000269|PubMed:21282530}.
uniprot
proteins
mass_dalton
56081
uniprot
proteins
mutagenesis
MUTAGEN 17; /note="I->F: Reduced interaction with H3C15 and H3C1."; /evidence="ECO:0000269|PubMed:18927235
uniprot
proteins
pubmed
12167701
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18927235
uniprot
proteins
pubmed
19361780
uniprot
proteins
pubmed
19636380
uniprot
proteins
pubmed
21282530
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
7782071
uniprot
proteins
sequence_length
532
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18927235, ECO:0000269|PubMed:21282530}. Chromosome {ECO:0000269|PubMed:18927235}. Note=Localized in distinct foci on chromatin and in chromocenters. Localizes to the inactive X chromosome. Seems to be recruited to H3K27me3, H3K9ac and H3K3me2 sites on chromatin. {ECO:0000269|PubMed:18927235}.
uniprot
proteins