GATAD2B Gene - GATA Zinc Finger Domain Containing 2B
A key component of the NuRD chromatin remodeling complex involved in transcriptional regulation and neurodevelopment.
Gene Information Card
| Symbol | GATAD2B |
|---|---|
| Full Name | GATA zinc finger domain containing 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 57459 ncbi.nlm.nih.gov/gene/57459 |
| Ensembl ID | ENSG00000143614 |
| UniProt ID | Q8WXI9 |
| OMIM ID | 614998 |
| HGNC ID | 30778 |
| Aliases | KIAA1150, p66beta, GATAD2B |
Description
GATAD2B encodes a zinc finger protein that is a subunit of the NuRD (nucleosome remodeling and deacetylase) complex, which mediates ATP-dependent chromatin remodeling and histone deacetylase activity. The protein contains a GATA-type zinc finger domain and is involved in transcriptional repression, cell cycle regulation, and neurodevelopment. Mutations in GATAD2B are associated with a neurodevelopmental disorder characterized by intellectual disability, speech delay, and dysmorphic features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| GATAD2B-related neurodevelopmental disorder | Loss-of-function mutations in GATAD2B impair NuRD complex function, leading to aberrant gene expression during brain development. | ClinVar, OMIM |
| Intellectual disability | De novo missense and truncating variants disrupt protein-protein interactions within the NuRD complex. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 10.8 | Medium |
| Heart | 7.5 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | Moderate expression |
| K562 | 8.9 | Low expression |
| HeLa | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375*) | Nonsense | <0.01% | Loss of function, truncated protein |
| c.1486G>A (p.Gly496Arg) | Missense | <0.01% | Impaired NuRD complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to haploinsufficiency are the primary mechanism in GATAD2B-related neurodevelopmental disorder.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting NuRD complex integrity.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NuRD complex mediated chromatin remodeling
• Transcriptional repression by histone deacetylation
Protein Summary
GATAD2B (p66beta) is a 593-amino acid protein that contains a GATA-type zinc finger domain and a coiled-coil region. It functions as a scaffold within the NuRD complex, bridging the MBD2/3 and HDAC1/2 subunits. The protein is essential for proper chromatin remodeling and gene silencing during development, particularly in the nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GATAD2B Knockout HEK293 Cell Line | EDJ-KQ13570 | Human | 57459 | Details Get a Quote |
| GATAD2B Knockout HCT 116 Cell Line | EDJ-KQ41960 | Human | 57459 | Details Get a Quote |
| GATAD2B Knockout A-549 Cell Line | EDJ-KQ43217 | Human | 57459 | Details Get a Quote |
| GATAD2B Knockout HeLa Cell Line | EDJ-KQ43218 | Human | 57459 | Details Get a Quote |
