GATAD2B
Domain
Both CR1 and CR2 regions are required for speckled nuclear localization.
Function
Transcriptional repressor (PubMed:12183469, PubMed:16415179). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). Enhances MBD2-mediated repression (PubMed:12183469, PubMed:16415179). Efficient repression requires the presence of GATAD2A (PubMed:16415179). Targets MBD3 to discrete loci in the nucleus (PubMed:11756549). May play a role in synapse development (PubMed:23644463).
Involvement in disease
Gand syndrome
GAND
An autosomal dominant syndrome characterized by global developmental delay with motor delay, moderate to severely impaired intellectual development, and poor speech acquisition in most patients. Additional features include hypotonia, feeding difficulties in infancy, and dysmorphic features. More variable features may include seizures, cardiac abnormalities, and non-specific findings on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed.
Cellular localization
- Nucleus speckle
- Nucleus
- Chromosome
- Speckled nuclear localization requires both CR1 and CR2 regions (PubMed:16415179). Localizes to sites of DNA damage (PubMed:27732854).
Alternative names
KIAA1150, GATAD2B, Transcriptional repressor p66-beta, GATA zinc finger domain-containing protein 2B, p66/p68