GATA4 Gene Summary [Human]
This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Details
| Type | Protein Coding |
| Official Symbol | GATA4 |
| Official Name | GATA binding protein 4 [Source:HGNC Symbol;Acc:HGNC:4173] |
| Ensembl ID | ENSG00000136574 |
| Bio databases IDs | |
| Aliases | GATA binding protein 4 |
| Synonyms | ASD2, GATA binding protein 4, TACHD, TOF, VSD1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GATA4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- transcription regulator
- transcription activation domain
- transcription factor binding
- chromatin binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- zinc ion binding
- zinc finger binding to DNA consensus sequence [AT]GATA[AG]
- Pka phosphorylation site
- basic domain
- ZnF_GATA
- amino finger domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- protein kinase binding
- DNA binding domain
- nucleic acid binding
- nuclear localization sequence
- protein binding
- GATA-type transcription activator, N-terminal
- sequence-specific DNA binding
- DNA binding
- double-stranded DNA binding
- zinc finger domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the GATA4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- edema
- cardiac hypertrophy
- epithelial cancer
- epithelial neoplasia
- cancer
- heart failure
- ventricular septal defect type 1
- organismal death
- hypoplasia
role in cell
- binding in
- quantity
- activation in
- expression in
- cell death
- apoptosis
- proliferation
- production in
- contraction
- survival
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- nucleoplasm
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GATA4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- atrioventricular valve formation
- atrial septum secundum morphogenesis
- male gonad development
- endoderm development
- endocardial cushion development
- response to xenobiotic stimulus
- positive regulation of transcription from RNA polymerase II promoter
- embryonic foregut morphogenesis
- positive regulation of angiogenesis
- response to mechanical stimulus
- negative regulation of transcription from RNA polymerase II promoter
- wound healing
- cardiac ventricle morphogenesis
- positive regulation of transcription, DNA-dependent
- cellular response to glucose stimulus
- transdifferentiation
- heart looping
- positive regulation vascular endothelial growth factor production
- cardiac muscle tissue regeneration
- intestinal epithelial cell differentiation
- aortic valve morphogenesis
- regulation of cardiac muscle cell contraction
- ventricular septum development
- embryonic heart tube anterior/posterior pattern specification
- atrioventricular node development
- cell-cell signaling
- regulation of transcription, DNA-dependent
- cell growth involved in cardiac muscle cell development
- atrial septum primum morphogenesis
- atrial septum morphogenesis
- positive regulation of BMP signaling pathway
- cardiac right ventricle morphogenesis
- negative regulation of autophagy
- cell fate commitment
- response to vitamin A
- negative regulation of cardiac muscle cell apoptotic process
- negative regulation of apoptotic signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- zinc ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- co-SMAD binding
- NFAT protein binding