CHD2 Gene: Chromodomain Helicase DNA Binding Protein 2
A key chromatin remodeler implicated in epileptic encephalopathies and neurodevelopmental disorders
Gene Information Card
| Symbol | CHD2 |
|---|---|
| Full Name | Chromodomain Helicase DNA Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 1106 ncbi.nlm.nih.gov/gene/1106 |
| Ensembl ID | ENSG00000173575 |
| UniProt ID | O14647 |
| OMIM ID | 602119 |
| HGNC ID | 1917 |
| Aliases | CHD2-IT1, DKFZp686K0220, FLJ11714 |
Description
The CHD2 gene encodes a member of the chromodomain helicase DNA-binding (CHD) family, which plays a critical role in chromatin remodeling and gene expression regulation. CHD2 is involved in ATP-dependent chromatin remodeling, affecting nucleosome assembly and DNA accessibility. It is essential for normal brain development and function, and mutations are associated with a spectrum of neurodevelopmental disorders, particularly epileptic encephalopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, childhood-onset | Loss-of-function mutations leading to haploinsufficiency | ClinVar, OMIM |
| Developmental and epileptic encephalopathy 94 | De novo mutations (missense, truncating) | OMIM, ClinVar |
| Intellectual disability | Disruption of chromatin remodeling affecting neuronal gene expression | ClinVar, literature |
| Autism spectrum disorder | Rare de novo variants | ClinVar, literature |
| Myoclonic-astatic epilepsy | Loss-of-function mutations | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.1 | High |
| Testis | 8.5 | Medium |
| Lung | 5.2 | Low |
| Liver | 3.1 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression, relevant for neuronal studies |
| HeLa (cervical carcinoma) | 6.4 | Moderate expression |
| A549 (lung carcinoma) | 4.2 | Low expression |
| HepG2 (hepatocellular carcinoma) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1672C>T (p.Arg558Ter) | Nonsense | Rare | Loss-of-function, likely pathogenic |
| c.2912G>A (p.Arg971His) | Missense | De novo | Pathogenic, affects ATPase domain |
| c.3827_3828del (p.Glu1276fs) | Frameshift | Rare | Loss-of-function, pathogenic |
| c.5233C>T (p.Arg1745Trp) | Missense | De novo | Pathogenic, affects helicase domain |
Mutation functional classification
Loss of Function (LOF)
Most CHD2 mutations are loss-of-function, leading to haploinsufficiency. This disrupts chromatin remodeling, causing abnormal gene expression during neurodevelopment.
Gain of Function (GOF)
Gain-of-function mutations are rare and not well characterized; some missense variants may alter ATPase activity but evidence is limited.
Dominant Negative (DN)
Dominant-negative effects are not commonly reported; most pathogenic variants act via haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • DNA binding |
| • Chromatin binding | • Helicase activity |
| • Nucleosome binding | • Regulation of transcription |
| • DNA-templated | • Chromatin remodeling |
Pathways
• Chromatin organization
• Transcriptional regulation by chromatin remodeling
• Neuronal development and differentiation
Protein Summary
The CHD2 protein is a 1,828-amino-acid ATP-dependent chromatin remodeler. It contains two chromodomains, a helicase/ATPase domain, and a DNA-binding domain. CHD2 regulates nucleosome assembly and gene expression, particularly in neural progenitors. It interacts with histones and other chromatin factors to modulate transcription. Mutations cause neurodevelopmental disorders, highlighting its critical role in brain function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHD2 Knockout HEK293 Cell Line | EDJ-KQ4261 | Human | 1106 | Details Get a Quote |
| CHD2 Knockout A-549 Cell Line | EDJ-KQ26738 | Human | 1106 | Details Get a Quote |
| CHD2 Knockout HCT 116 Cell Line | EDJ-KQ26739 | Human | 1106 | Details Get a Quote |
| CHD2 Knockout HeLa Cell Line | EDJ-KQ26740 | Human | 1106 | Details Get a Quote |
