FOXA2 Gene Summary [Human]
This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | FOXA2 |
| Official Name | forkhead box A2 [Source:HGNC Symbol;Acc:HGNC:5022] |
| Ensembl ID | ENSG00000125798 |
| Bio databases IDs | |
| Aliases | forkhead box A2 |
| Synonyms | forkhead box A2, HNF3B, HNF3-beta, HNF3-β, TCF3B |
| 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 FOXA2 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
- FH_FOX
- transcription co-repressor
- transcription activation domain
- transcription factor binding
- chromatin binding
- general RNA polymerase II transcription factor
- Forkhead domain
- HNF3 C-terminal domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- Forkhead N-terminal region
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- forkhead box domain
- nuclear export signal
- nucleic acid binding
- CR1 domain
- protein binding
- sequence-specific DNA binding
- DNA binding
- FORKHEAD
- phosphorylation site
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- kinase binding
- double-stranded DNA binding
- transcription factor activity
Pathways
Biological processes and signaling networks where the FOXA2 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
- colorectal cancer
- malocclusion
- obesity
- organismal death
- growth failure
- colorectal carcinoma
- colorectal carcinomagenesis
- gastric adenocarcinoma
- gastric epithelial cancer
role in cell
- expression in
- accumulation in
- apoptosis
- growth
- production in
- binding in
- damage
- differentiation
- transcription in
- transactivation in
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
- cell junction
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FOXA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of insulin secretion involved in cellular response to glucose stimulus
- regulation of blood coagulation
- negative regulation of glucokinase activity
- anatomical structure morphogenesis
- negative regulation of sequence-specific DNA binding transcription factor activity
- adult locomotory behavior
- chromatin organization
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of embryonic development
- positive regulation of transcription from RNA polymerase II promoter by glucose
- regulation of transcription from RNA polymerase II promoter
- negative regulation of epithelial to mesenchymal transition
- positive regulation of transcription, DNA-dependent
- dopaminergic neuron differentiation
- cell differentiation
- positive regulation of gastrulation
- response to interleukin-6
- cell fate specification
- endocrine pancreas development
- positive regulation of cell-cell adhesion mediated by cadherin
- primitive streak formation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cell junction
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- nucleic acid binding
- DNA binding
- protein domain specific binding
- sequence-specific DNA binding transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity