CBX2

Expressed during interphase and metaphase.

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).

46,XY sex reversal 5

SRXY5

A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.

None

The disease is caused by variants affecting the gene represented in this entry.

• 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.

Chromobox protein homolog 2, CBX2

• entrezGene:84733
• omim:602770
• swissprot:Q14781

Proteins

Epigenetics

56081Da