CHD3

Chr 17p13.1

chromodomain helicase DNA binding protein 3

Aliases:: Mi-2a, ZFH, Mi2-ALPHA
MANE:: ENST00000330494.12

OMIM: 602120 ↗NCBI: 1107 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CHD3 · Q12873

v62025-08-01

Predicted Aligned Error matrix for CHD3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.4/ 100

Low

2,000 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)36%
Low(50–70)11%
Very low(< 50)39%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Snijders Blok-Campeau syndrome
0.82
hereditary disease
0.55
Intellectual disability
0.51
Global developmental delay
0.44
neurodegenerative disease
0.41
Macrocephaly
0.37
Neurodevelopmental abnormality
0.33
marfanoid habitus and intellectual disability
0.27
hypertensive disorder
0.27
smoking initiation
0.23

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

ATP-dependent chromatin remodeler CHD3

ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA (PubMed:28977666). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666, PubMed:30397230, PubMed:9804427). Involved in transcriptional repression as part of the NuRD complex (PubMed:27068747). Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity (PubMed:17626165)