BC004252
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
23,312 Da
NCBI Official Full Name
Homo sapiens chromobox homolog 2 (Pc class homolog, Drosophila), mRNA
NCBI Official Synonym Full Names
chromobox homolog 2
NCBI Protein Information
chromobox protein homolog 2
UniProt Protein Name
Chromobox protein homolog 2
UniProt Entry Name
CBX2_HUMAN
NCBI Summary for 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]
UniProt Comments for CBX2
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. 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. Involved in sexual development, acting as activator of NR5A1 expression. Defects in CBX2 are the cause of 46,XY sex reversal type 5 (SRXY5). It is a disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transcription regulation
Chromosomal Location of Human Ortholog: 17q25.3
Cellular Component: nucleoplasm; heterochromatin; euchromatin; PcG protein complex; nucleus
Molecular Function: protein binding; DNA binding; chromatin binding; methylated histone residue binding
Biological Process: transcription, DNA-dependent; chromatin modification; negative regulation of transcription from RNA polymerase II promoter; cell differentiation; development of primary sexual characteristics
Disease: 46,xy Sex Reversal 5
Research Articles on CBX2
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Products associated with anti-CBX2 antibody
Pathways associated with anti-CBX2 antibody
Diseases associated with anti-CBX2 antibody
Organs/Tissues associated with anti-CBX2 antibody
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