Aliases for GATAD2B Gene
External Ids for GATAD2B Gene
Previous GeneCards Identifiers for GATAD2B Gene
This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]
GeneCards Summary for GATAD2B Gene
GATAD2B (GATA Zinc Finger Domain Containing 2B) is a Protein Coding gene. Diseases associated with GATAD2B include Mental Retardation, Autosomal Dominant 18 and Koolen-De Vries Syndrome. Among its related pathways are Regulation of TP53 Activity and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is GATAD2A.
UniProtKB/Swiss-Prot Summary for GATAD2B Gene
Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2A. Targets MBD3 to discrete loci in the nucleus. May play a role in synapse development.