Aliases for CBX2 Gene
External Ids for CBX2 Gene
Previous HGNC Symbols for CBX2 Gene
Previous GeneCards Identifiers for CBX2 Gene
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]
GeneCards Summary for CBX2 Gene
CBX2 (Chromobox 2) is a Protein Coding gene. Diseases associated with CBX2 include 46,Xy Sex Reversal 5 and 46 Xy Gonadal Dysgenesis. Among its related pathways are Cellular Senescence (REACTOME) and SUMOylation. Gene Ontology (GO) annotations related to this gene include chromatin binding and methylated histone binding. An important paralog of this gene is CBX4.
UniProtKB/Swiss-Prot Summary for CBX2 Gene
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).