| Property | Value |
|---|---|
| Protein Name | Chromodomain Helicase DNA Binding Protein 2 |
| Gene | CHD2 |
| UniProt ID | O14671 |
| Molecular Weight | ~233 kDa |
| Subcellular Localization | Nucleus |
| Protein Family | CHD family, SNF2 helicase family |
CHD2 (Chromodomain Helicase DNA Binding Protein 2) is a ATP-dependent chromatin remodeler that plays critical roles in neuronal development, gene regulation, and epilepsy pathogenesis[1]. CHD2 is a member of the chromodomain helicase domain (CHD) family of proteins, which use the energy from ATP hydrolysis to slide, evict, and restructure nucleosomes, thereby modulating DNA accessibility for transcription factors and other regulatory proteins[2].
CHD2 contains multiple conserved domains:
CHD2 regulates gene expression through chromatin remodeling:
CHD2 is essential for proper brain development:
CHD2 mutations are a significant cause of genetic epilepsy[1:1][3]:
CHD2 is implicated in multiple neurodevelopmental conditions:
While primarily studied in neurological contexts:
Carvill, G.L. et al. (2013). Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and GABRB3. American Journal of Human Genetics, 92(4), 571-576. 2013. ↩︎ ↩︎
Marfella, C.G. & Imbalzano, A.N. (2007). The Chd family of chromatin remodelers. Mutation Research, 618(1-2), 30-40. 2007. ↩︎
Suls, A. et al. (2013). De novo CHD2 mutations cause epileptic encephalopathy. Brain, 136(Pt 10), 3032-3044. 2013. ↩︎