CHD4: Chromodomain Helicase DNA Binding Protein 4
A key chromatin remodeler in gene regulation and disease
Gene Information Card
| Symbol | CHD4 |
|---|---|
| Full Name | Chromodomain Helicase DNA Binding Protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 1108 ncbi.nlm.nih.gov/gene/1108 |
| Ensembl ID | ENSG00000111642 |
| UniProt ID | Q14839 |
| OMIM ID | 603277 |
| HGNC ID | 1916 |
| Aliases | Mi-2b, Mi2-BETA, CHD-4, ATP-dependent helicase CHD4 |
Description
CHD4 encodes a member of the chromodomain helicase DNA-binding (CHD) protein family, which functions as an ATP-dependent chromatin remodeler. It is a core component of the nucleosome remodeling and deacetylase (NuRD) complex, regulating gene expression by altering chromatin structure. CHD4 is involved in transcriptional repression, DNA repair, and cell cycle control. Mutations in CHD4 are associated with Sifrim-Hitz-Weiss syndrome and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sifrim-Hitz-Weiss syndrome | Loss-of-function mutations in CHD4 disrupt NuRD complex activity, leading to neurodevelopmental abnormalities | OMIM #617159 |
| Breast cancer | CHD4 overexpression or mutation promotes tumorigenesis via altered chromatin remodeling and gene expression | COSMIC, ClinVar |
| Colorectal cancer | Somatic mutations in CHD4 contribute to genomic instability and tumor progression | COSMIC |
| Endometrial cancer | Recurrent CHD4 mutations identified in endometrial tumors, affecting chromatin regulation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 10.1 | Medium |
| Lung | 9.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 20.3 | Cervical cancer cell line |
| K562 | 18.7 | Leukemia cell line |
| A549 | 15.4 | Lung cancer cell line |
| MCF7 | 14.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3079C>T (p.Arg1027*) | Nonsense | Rare | Loss of function; associated with Sifrim-Hitz-Weiss syndrome |
| c.3890A>G (p.Tyr1297Cys) | Missense | Rare | Impaired ATPase activity; linked to neurodevelopmental disorders |
| c.4567G>A (p.Glu1523Lys) | Missense | Somatic (cancer) | Altered chromatin binding; found in endometrial cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, reducing NuRD complex activity and leading to developmental disorders.
Gain of Function (GOF)
Not well characterized; some missense mutations may enhance ATPase activity in cancer contexts.
Dominant Negative (DN)
Missense mutations in the helicase domain can disrupt wild-type CHD4 function, impairing chromatin remodeling.
View complete mutation data：
Gene Ontology (GO)
| • ATP-dependent chromatin remodeling | • DNA repair |
| • nucleosome binding | • transcription corepressor activity |
| • cell cycle regulation |
Pathways
• NuRD complex pathway
• Chromatin remodeling
• DNA damage response
Protein Summary
CHD4 is a 1912-amino acid protein containing two chromodomains, a helicase/ATPase domain, and a DNA-binding domain. It is a core component of the NuRD complex, mediating ATP-dependent nucleosome sliding and histone deacetylase activity. CHD4 regulates gene expression by repressing transcription and is involved in DNA repair, cell cycle checkpoints, and development. Mutations in CHD4 are linked to neurodevelopmental disorders and cancer.
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