protein
ATP-dependent chromatin remodeler CHD2
Gene
CHD2
Organism
Homo sapiens(9606)
Length
1828 aa
Mass
211,344 Da
CHD2 encodes an ATP-dependent chromatin remodeler that functions as a chromatin-remodeling factor. It specifically binds to promoters of target genes and promotes chromatin remodeling, likely by facilitating histone H3.3 deposition. CHD2 plays a role in myogenesis through interaction with MYOD1, binding myogenic gene regulatory sequences and promoting expression of myogenic genes (UniProt: O14647).
CHD2 is expressed across multiple tissues and participates in chromatin remodeling pathways critical for gene regulation during development. Mutations in CHD2 are associated with Developmental and Epileptic Encephalopathy 94 (DEE94), a severe autosomal dominant disorder characterized by onset of multiple seizure types in early childhood, accompanied by neurodevelopmental impairment and cognitive decline following initial seizure emergence (UniProt: O14647).
CHD2 is classified as a SFARI Category 1 gene with syndromic autism associations (SFARI Cat 1). This classification reflects high-confidence evidence linking CHD2 mutations to autism spectrum disorder within the context of syndromic presentations, particularly in individuals with early-onset epileptic encephalopathy and associated neurodevelopmental impairment.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
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)
Disease associations
Developmental and epileptic encephalopathy 94DEE94
A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE94 is an autosomal dominant, severe form characterized by onset of multiple seizure types in the first few years of life.
Sources
Last updated 5/6/2026, 5:25:45 AM