CHD2 Gene Summary [Human]
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CHD2 |
| Official Name | chromodomain helicase DNA binding protein 2 [Source:HGNC Symbol;Acc:HGNC:1917] |
| Ensembl ID | ENSG00000173575 |
| Bio databases IDs | |
| Aliases | chromodomain helicase DNA binding protein 2 |
| Synonyms | 2810013C04RIK, 2810040A01Rik, 5630401D06RIK, chromodomain helicase DNA binding protein 2, DEE94, EEOC, LOC108349594, LOC283680 |
| 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 CHD2 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
- CDH1/2 SANT-Helical linker 1
- histone binding
- nucleic acid binding
- SNF2-related domain
- helicase superfamily c-terminal domain
- enzyme
- protein binding
- sequence-specific DNA binding
- Helicase conserved C-terminal domain
- DNA binding
- CHROMO (CHRromatin Organization Modifier) domains and chromo shadow domains
- Domain of unknown function (DUF4208)
- double-stranded DNA binding
- Type III restriction enzyme, res subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- Chromo (CHRromatin organization MOdifier) domain
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- childhood-onset epileptic encephalopathy
- hereditary disorder
- Alzheimer disease
- chronic lymphocytic leukemia
- pervasive developmental disorder
- mental retardation
- T-cell non-Hodgkin disease
- mature T-cell neoplasia
- COVID-19
- schizophrenia
regulates
- H3-3A/3B
role in cell
- differentiation
- DNA damage response
- deposition in
- expansion in
- expansion
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
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- nucleosome organization
- gene expression
- hemopoietic stem cell differentiation
- response to DNA damage stimulus
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA binding
- protein binding
- RNA binding
- histone binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- helicase activity
- chromatin binding