Chd2 Gene Summary [Mouse]
Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and histone binding activity. Involved in gene expression and muscle organ development. Acts upstream of or within DNA damage response and hematopoietic stem cell differentiation. Located in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study CHARGE syndrome. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 94. Orthologous to human CHD2 (chromodomain helicase DNA binding protein 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Chd2 |
| Official Name | chromodomain helicase DNA binding protein 2 [Source:MGI Symbol;Acc:MGI:2448567] |
| Ensembl ID | ENSMUSG00000078671 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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.
regulates
- H3-3A/3B
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
phenotypes
- abnormal bone structure
- decreased body length
- decreased bone mineral content
- decreased bone mineral density
- decreased erythrocyte cell number
- decreased hemoglobin content
- decreased mean platelet volume
- developmental and structural abnormality
- increased grip strength
- increased mean corpuscular volume
- short tibia
- abnormal DNA repair
- abnormal blood cell morphology/development
- abnormal blood vessel morphology
- abnormal body length
- abnormal bone mineral density
- abnormal bone mineralization
- abnormal cell cycle
- abnormal erythropoiesis
- abnormal eye morphology
- abnormal grip strength
- abnormal kidney morphology
- abnormal liver morphology
- abnormal lung morphology
- abnormal prepulse inhibition
- abnormal respiratory system physiology
- abnormal spleen morphology
- abnormal tibia morphology
- absent subcutaneous adipose tissue
- anophthalmia
- arteritis
- bile duct hyperplasia
- cardiac fibrosis
- cardiomyopathy
- cortical renal glomerulopathies
- decreased birth body size
- decreased body size
- decreased body weight
- decreased erythroid progenitor cell number
- decreased fetal size
- decreased lymphocyte cell number
- decreased subcutaneous adipose tissue amount
- decreased survivor rate
- decreased white adipose tissue amount
- disheveled coat
- endometrium hyperplasia
- enlarged heart
- enlarged heart atrium
- enlarged lymph nodes
- enlarged spleen
- extramedullary hematopoiesis
- fetal growth retardation
- heart inflammation
- hemorrhage
- hepatic necrosis
- increased CD4-positive alpha beta T cell number
- increased T cell derived lymphoma incidence
- increased cellular sensitivity to X-ray irradiation
- increased cellular sensitivity to methylmethanesulfonate
- increased cellular sensitivity to ultraviolet irradiation
- increased lymphoma incidence
- increased megakaryocyte cell number
- increased spleen red pulp amount
- interstitial pneumonia
- kyphosis
- lethality throughout fetal growth and development incomplete penetrance
- lethargy
- lipidosis
- liver inflammation
- lordosis
- lymphoid hyperplasia
- myocardial fiber degeneration
- myocarditis
- pale kidney
- pallor
- postnatal growth retardation
- postnatal lethality
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality incomplete penetrance
- preweaning lethality incomplete penetrance
- pulmonary alveolar edema
- pulmonary alveolar hemorrhage
- tachypnea
- uterus cysts
- weight loss
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 mouse 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