CBX2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CBX2 |
| Official Name | chromobox 2 [Source:HGNC Symbol;Acc:HGNC:1552] |
| Ensembl ID | ENSG00000173894 |
| Bio databases IDs | |
| Aliases | chromobox 2, Pc class homolog (Drosophila) |
| Synonyms | CDCA6, chromobox 2, HPC1, M33, MGC10561, MOD2, MODIFIER3, pc, PC1, SRXY5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CBX2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- polycomb conserved domain
- Chromatin organization modifier domain
- CBX family C-terminal motif
- transcription regulator
- transcription repression domain
- CHROMO (CHRromatin Organization Modifier) domains and chromo shadow domains
- Ring1 binding domain
- protein binding activity, bridging
- chromatin binding
- protein binding
- Chromo (CHRromatin organization MOdifier) domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- breast carcinoma
- metastasis
- diffuse large B-cell lymphoma
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
- lung squamous cell carcinoma
- squamous cell lung cancer
- immunodeficiency
role in cell
- expression in
- migration
- growth
- proliferation
- phosphorylation in
- apoptosis
- invasion
- accumulation in
- quantity
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- heterochromatin
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CBX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- development of primary sexual characteristics
- cell differentiation
- chromatin organization
Cellular Component
Where in the cell the gene product is active
- nucleus
- heterochromatin
- euchromatin
- PRC1 complex
- PcG protein complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- methylated histone residue binding
- chromatin binding