CBX2

This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]

CBX2

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).

Cell differentiation Source: UniProtKB-KW
Chromatin organization Source: UniProtKB-KW
Development of primary sexual characteristics Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: UniProtKB

Nucleus; Chromosome. 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.

46,XY sex reversal 5 (SRXY5): A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.