CHD4 Gene Summary [Human]
The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | CHD4 |
| Official Name | chromodomain helicase DNA binding protein 4 [Source:HGNC Symbol;Acc:HGNC:1919] |
| Ensembl ID | ENSG00000111642 |
| Bio databases IDs | |
| Aliases | chromodomain helicase DNA binding protein 4 |
| Synonyms | 9530019N15Rik, chromodomain helicase DNA binding protein 4, D6Ertd380e, MI2, Mi-2b, Mi2-BETA, Mi2-β, mKIAA4075, SIHIWES |
| 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 CHD4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Chromatin organization modifier domain
- PHD zinc finger
- transcription co-repressor
- transcription factor binding
- enzyme
- ATPase
- Helicase conserved C-terminal domain
- helicase domain
- zinc ion binding
- Type III restriction enzyme, res subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- P-loop containing Nucleoside Triphosphate Hydrolases
- helicase superfamily c-terminal domain
- SNF2-related domain
- CHD subfamily II, SANT-like domain
- histone deacetylase binding
- protein binding
- DNA dependent ATPase
- CHDNT (NUC034) domain
- CHD subfamily II, DUF1087
- DNA binding
- CHROMO (CHRromatin Organization Modifier) domains and chromo shadow domains
- PHD finger superfamily
- zinc finger domain
- Chromo (CHRromatin organization MOdifier) domain
- CHDCT2 (NUC038) domain
Pathways
Biological processes and signaling networks where the CHD4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- non-insulin-dependent diabetes mellitus
- epithelial cancer
- breast cancer
- Sifrim-Hitz-Weiss syndrome
- neonatal encephalopathy
- Burkitt lymphoma
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
- acute myeloid leukemia
role in cell
- expression in
- proliferation
- cell death
- binding in
- survival
- apoptosis
- formation
- differentiation
- growth
- development
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
- interchromatin granule cluster fractions
- nuclear fraction
- glutaminergic synapse
- Cytoplasm
- centrosome
- nucleoplasm
- nucleoli
- nuclear scaffolds
- synapse
- telomeres
- chromatin
- excitatory synapses
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHD4 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
- negative regulation of gene expression
- regulation of cell fate specification
- chromatin remodeling
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- terminal button organization
- regulation of stem cell differentiation
- double-strand break repair via homologous recombination
- regulation of synapse assembly
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleus
- centrosome
- cytoplasm
- NuRD complex
- membrane
- macromolecular complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- zinc ion binding
- histone deacetylase binding
- nucleosomal DNA binding
- helicase activity
- chromatin binding
- transcription cofactor binding
- ATP binding
- DNA binding
- protein binding
- transcription corepressor activity
- histone binding