DISEASES

Disease-gene associations mined from literature

Literature associating CBX2 and Guttmacher syndrome

CBX2 [ENSP00000308750]

Chromobox protein homolog 2; 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. 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. 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; Chromobox family

Synonyms:  CBX2,  CBX2p,  hCBX2,  Q14781,  Q14781p ...

Linkouts:  STRING  Pharos  UniProt  OMIM