GATAD2A Gene
GATA Zinc Finger Domain Containing 2A
Gene Information Card
| Symbol | GATAD2A |
|---|---|
| Full Name | GATA zinc finger domain containing 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 54815 ncbi.nlm.nih.gov/gene/54815 |
| Ensembl ID | ENSG00000105647 |
| UniProt ID | Q86YP4 |
| OMIM ID | 614997 |
| HGNC ID | 29967 |
| Aliases | p66alpha, GATAD2, FLJ20013, KIAA1847 |
Description
GATAD2A encodes a zinc finger protein that functions as a component of the nucleosome remodeling and deacetylase (NuRD) complex. It acts as a transcriptional repressor by recruiting the NuRD complex to target promoters, influencing chromatin remodeling and gene silencing. GATAD2A is involved in cell differentiation, proliferation, and development, and its dysregulation has been implicated in cancer and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of GATAD2A promotes cell proliferation and migration via NuRD complex-mediated repression of tumor suppressor genes | PMID: 25686833 |
| Colorectal cancer | GATAD2A amplification correlates with poor prognosis and enhanced Wnt/β-catenin signaling | PMID: 29367605 |
| Neurodevelopmental disorders | De novo missense variants in GATAD2A associated with intellectual disability and autism spectrum disorder | ClinVar: SCV001422345 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.7 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.8 | Low expression |
| MCF7 | 13.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Loss of NuRD complex binding; associated with neurodevelopmental disorder |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Reduced transcriptional repression activity |
| Amplification (19p13.11) | Copy number gain | ~2% in breast cancer | Increased GATAD2A expression; oncogenic potential |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg375Trp) impair NuRD complex recruitment, leading to derepression of target genes.
Gain of Function (GOF)
Gene amplification results in increased GATAD2A protein levels, enhancing NuRD-mediated repression of tumor suppressors.
Dominant Negative (DN)
Not reported for GATAD2A.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • DNA binding (GO:0003677) | • regulation of transcription (GO:0006355) |
| • chromatin organization (GO:0006325) | • NuRD complex (GO:0016581) |
Pathways
• NuRD complex mediated transcriptional repression
• Chromatin remodeling
• Notch signaling (via NuRD interaction)
Protein Summary
GATAD2A (p66alpha) is a 633-amino acid protein containing a GATA-type zinc finger domain and a coiled-coil region. It serves as a scaffold within the NuRD complex, bridging the MBD2/3 and HDAC1/2 subunits. The protein is predominantly nuclear and regulates gene expression by promoting histone deacetylation and chromatin compaction. Post-translational modifications include phosphorylation and acetylation, which modulate its stability and interaction partners.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GATAD2A Knockout HEK293 Cell Line | EDJ-KQ13569 | Human | 54815 | Details Get a Quote |
| GATAD2A Knockout A-549 Cell Line | EDJ-KQ43214 | Human | 54815 | Details Get a Quote |
| GATAD2A Knockout HCT 116 Cell Line | EDJ-KQ43215 | Human | 54815 | Details Get a Quote |
| GATAD2A Knockout HeLa Cell Line | EDJ-KQ43216 | Human | 54815 | Details Get a Quote |
