GATA6 Gene Summary [Human]
This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]
Details
| Type | Protein Coding |
| Official Symbol | GATA6 |
| Official Name | GATA binding protein 6 [Source:HGNC Symbol;Acc:HGNC:4174] |
| Ensembl ID | ENSG00000141448 |
| Bio databases IDs | |
| Aliases | GATA binding protein 6 |
| Synonyms | GATA binding protein 6 |
| 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 GATA6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- protein kinase binding
- DNA binding domain
- nucleic acid binding
- transcription factor binding
- chromatin binding
- protein binding
- GATA-type transcription activator, N-terminal
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- zinc finger binding to DNA consensus sequence [AT]GATA[AG]
- zinc finger domain
- transcription factor activity
- ZnF_GATA
Pathways
Biological processes and signaling networks where the GATA6 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
- ovarian neoplasia
- neoplasia
- colon epithelial cancer
- esophageal adenocarcinoma
- esophageal carcinoma formation
- pancreatic agenesis and congenital heart defects
- organismal death
- serous ovarian cancer
- atrioventricular septal defect type 5
- congenital pancreatic agenesis
role in cell
- expression in
- differentiation
- invasion by
- cell death
- proliferation
- migration
- survival
- activation in
- apoptosis
- growth
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
- nucleoplasm
- nuclear envelope
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GATA6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of cardiac muscle cell proliferation
- Clara cell differentiation
- heart contraction
- response to growth factor stimulus
- response to estrogen stimulus
- male gonad development
- endodermal cell fate determination
- phospholipid metabolic process
- response to toxin
- positive regulation of angiogenesis
- response to retinoic acid
- cellular response to gonadotropin stimulus
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- in utero embryonic development
- cellular response to BMP stimulus
- regulation of antimicrobial humoral response
- tube morphogenesis
- cellular response to hypoxia
- sebaceous gland cell differentiation
- cardiac muscle hypertrophy in response to stress
- cardiac muscle cell differentiation
- lung saccule development
- organ formation
- Type II pneumocyte differentiation
- cardiac muscle cell proliferation
- epithelial cell differentiation
- negative regulation of transforming growth factor beta1 production
- negative regulation of transforming growth factor beta2 production
- positive regulation of cardiac muscle cell apoptotic process
- gene expression
- G1 to G0 transition involved in cell differentiation
- response to cAMP
- odontogenesis of dentin-containing tooth
- response to xenobiotic stimulus
- positive regulation of transcription from RNA polymerase II promoter
- pancreatic A cell differentiation
- negative regulation of transcription from RNA polymerase II promoter
- outflow tract septum morphogenesis
- smooth muscle cell differentiation
- stem cell differentiation
- cardiac vascular smooth muscle cell differentiation
- liver development
- type B pancreatic cell differentiation
- intestinal epithelial cell differentiation
- atrioventricular node development
- sinoatrial node development
- positive regulation of BMP signaling pathway
- negative regulation of apoptotic process
- cell fate commitment
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- nuclear membrane
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- zinc ion binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- chromatin binding
- NFAT protein binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription coactivator binding