GATA4
GATA Binding Protein 4: A Master Regulator of Cardiac Development and Function
Gene Information Card
| Symbol | GATA4 |
|---|---|
| Full Name | GATA binding protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 2626 ncbi.nlm.nih.gov/gene/2626 |
| Ensembl ID | ENSG00000136574 |
| UniProt ID | P43694 |
| OMIM ID | 600576 |
| HGNC ID | 4173 |
| Aliases | MGC126629, MGC126631, VSD1 |
Description
GATA4 is a member of the GATA family of zinc-finger transcription factors that bind the consensus DNA sequence (A/T)GATA(A/G). It is essential for normal cardiac development, including heart tube formation, myocardial differentiation, and septation. GATA4 also plays roles in gonadal development and endodermal differentiation. Mutations in GATA4 are associated with congenital heart defects, particularly atrial and ventricular septal defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease (CHD) | Loss-of-function mutations impair GATA4 transcriptional activity, disrupting cardiac morphogenesis and septation. | ClinVar, OMIM |
| Atrial septal defect (ASD) | Heterozygous mutations reduce GATA4 binding to target promoters, leading to incomplete atrial septum formation. | ClinVar, OMIM |
| Ventricular septal defect (VSD) | Dominant-negative or haploinsufficient GATA4 variants alter downstream gene expression required for ventricular septation. | ClinVar, OMIM |
| Tetralogy of Fallot | Rare GATA4 missense variants disrupt protein stability and DNA binding, contributing to outflow tract defects. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 48.3 | High |
| Testis | 12.1 | Medium |
| Pancreas | 8.5 | Medium |
| Liver | 6.2 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 52.0 | High expression in differentiated cardiac cells |
| HepG2 | 6.5 | Moderate expression in liver carcinoma line |
| A549 | 3.2 | Low expression in lung carcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.820G>A (p.Glu274Lys) | Missense | Rare | Reduced DNA-binding affinity and transcriptional activation |
| c.1075C>T (p.Arg359Trp) | Missense | Rare | Impaired nuclear localization and protein stability |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon, leading to haploinsufficiency |
| c.1114G>A (p.Gly372Ser) | Missense | Rare | Dominant-negative effect on GATA4 target gene expression |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic GATA4 mutations result in loss of function via reduced DNA binding, transcriptional activity, or protein stability, leading to haploinsufficiency.
Gain of Function (GOF)
No well-characterized gain-of-function mutations are reported for GATA4 in human disease.
Dominant Negative (DN)
Some missense mutations (e.g., p.Gly372Ser) exert dominant-negative effects by interfering with wild-type GATA4 function, often associated with severe cardiac defects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac progenitor differentiation (Reactome: R-HSA-5576891)
• Transcriptional regulation of pluripotent stem cells (Reactome: R-HSA-913531)
• GATA4/NKX2-5 regulatory network in heart development (KEGG: hsa05410)
Protein Summary
GATA4 is a 442-amino acid transcription factor containing two conserved zinc finger domains (N-terminal and C-terminal) that mediate DNA binding and protein-protein interactions. It is highly expressed in the developing heart and adult cardiac tissue. GATA4 cooperates with other cardiac transcription factors (e.g., NKX2-5, TBX5) to regulate genes involved in cardiomyocyte proliferation, differentiation, and survival. Post-translational modifications, including acetylation and phosphorylation, modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GATA4 Knockout HEK293 Cell Line | EDJ-KQ1836 | Human | 2626 | Details Get a Quote |
| GATA4 Knockout A-549 Cell Line | EDJ-KQ21691 | Human | 2626 | Details Get a Quote |
| GATA4 Knockout HeLa Cell Line | EDJ-KQ53308 | Human | 2626 | Details Get a Quote |
| GATA4 Knockout HCT 116 Cell Line | EDJ-KQ70274 | Human | 2626 | Details Get a Quote |
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