AlphaFold predicted structure
CHD4 · Q14839
Mean pLDDT
64.6/ 100
Low
1,912 residues
Confidence breakdown
- Very high(≥ 90)16%
- Confident(70–90)39%
- Low(50–70)10%
- Very low(< 50)35%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CHD4
Chr 12p13.31chromodomain helicase DNA binding protein 4
- Aliases:
- Mi-2b, Mi2-BETA
- MANE:
- ENST00000544040.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownVACTERL-like phenotypes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCerebral vascular malformations
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
Sifrim-Hitz-Weiss syndrome
0.81neurodegenerative disease
0.55hereditary disease
0.50endometrial cancer
0.47uterine carcinosarcoma
0.44colon adenocarcinoma
0.40syndromic intellectual disability
0.37endometrial serous adenocarcinoma
0.37endometrial endometrioid adenocarcinoma
0.37bile duct carcinoma
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
ATP-dependent chromatin remodeler CHD4
ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA (PubMed:28977666, PubMed:32543371). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:17626165, PubMed:28977666, PubMed:9804427). Localizes to acetylated damaged chromatin in a ZMYND8-dependent manner, to promote transcriptional repression and double-strand break repair by homologous recombination (PubMed:25593309). Involved in neurogenesis (By similarity)
Diseases associated with CHD4
Curated MONDO disease pages that list CHD4 among their top associated genes.