AlphaFold predicted structure
CHD2 · O14647
Mean pLDDT
60.4/ 100
Low
1,828 residues
Confidence breakdown
- Very high(≥ 90)7%
- Confident(70–90)40%
- Low(50–70)12%
- Very low(< 50)42%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CHD2
Chr 15q26.1chromodomain helicase DNA binding protein 2
- Aliases:
- FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200
- MANE:
- ENST00000394196.9
Annotations refreshed 8 hours 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, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
developmental and epileptic encephalopathy 94
0.78B-cell chronic lymphocytic leukemia
0.71complex neurodevelopmental disorder
0.57lymphoid leukemia
0.56Epileptic encephalopathy
0.56hereditary disease
0.55Intellectual disability
0.54neurodegenerative disease
0.53Seizure
0.50epilepsy with myoclonic atonic seizures
0.50
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
ATP-dependent chromatin remodeler CHD2
ATP-dependent chromatin-remodeling factor that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity)
Diseases associated with CHD2
Curated MONDO disease pages that list CHD2 among their top associated genes.