TFAP2A Gene Summary [Human]
The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
Details
| Type | Protein Coding |
| Official Symbol | TFAP2A |
| Official Name | transcription factor AP-2 alpha [Source:HGNC Symbol;Acc:HGNC:11742] |
| Ensembl ID | ENSG00000137203 |
| Bio databases IDs | |
| Aliases | transcription factor AP-2 alpha |
| Synonyms | activating enhancer-binding protein 2 alpha, activating enhancer-binding protein 2 α, Activator protein-2, AP-2, Ap-2 (a), AP-2alpha, AP2TF, Ap2 α, BOFS, CUP, Tcfap2a, TFAP2, transcription factor AP-2 alpha, transcription factor AP-2, alpha, transcription factor AP-2 α, transcription factor AP-2, α |
| 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 TFAP2A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- dimerization domain
- transcription co-activator
- DNA binding domain
- nucleic acid binding
- transcription co-repressor
- Transcription factor AP-2
- alpha helix
- transcription activation domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- proline rich domain
- identical protein binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- ear domain
- double-stranded DNA binding
- basic domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the TFAP2A 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
- squamous cell lung cancer
- mammary neoplasm
- ovarian carcinoma
- lung squamous cell carcinoma
- epithelial ovarian cancer
- metastasis
- cutaneous melanoma
- bladder cancer
- peripheral T-cell lymphoma
role in cell
- expression in
- quantity
- apoptosis
- proliferation
- cell death
- migration
- growth
- cell viability
- formation
- invasion by
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
- clathrin-coated pits
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TFAP2A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- trigeminal nerve development
- negative regulation of cell proliferation
- palate development
- bone morphogenesis
- anatomical structure development
- positive regulation of transcription from RNA polymerase II promoter
- cellular response to iron ion
- positive regulation of neuron apoptotic process
- negative regulation of transcription from RNA polymerase II promoter
- sensory perception of sound
- optic vesicle morphogenesis
- negative regulation of transcription, DNA-dependent
- regulation of cell differentiation
- positive regulation of transcription, DNA-dependent
- kidney development
- optic cup structural organization
- embryonic forelimb morphogenesis
- positive regulation of bone mineralization
- negative regulation of reactive oxygen species metabolic process
- embryonic cranial skeleton morphogenesis
- oculomotor nerve formation
- regulation of cell proliferation
- eyelid development in camera-type eye
- regulation of transcription from RNA polymerase II promoter
- positive regulation of tooth mineralization
- negative regulation of transcription by competitive promoter binding
- negative regulation of apoptotic process
- positive regulation of gene expression
- inner ear morphogenesis
- retina layer formation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- identical protein binding
- protein 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
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity