Tfap2a Gene Summary [Mouse]
This gene is a member of the activator protein 2 (AP-2) transcription factor family. The protein encoded by this gene can act as both an activator and repressor of gene transcription, and plays an important role in early embryogenesis, specifically in cranial development. This protein forms both homodimers and heterodimers, and binds to a GC-rich consensus sequence found in some promoters and enhancers. Disruption of this gene causes perinatal death, with neural tube, craniofacial, and limb mesenchyme defects. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]
Details
| Type | Protein Coding |
| Official Symbol | Tfap2a |
| Official Name | transcription factor AP-2, alpha [Source:MGI Symbol;Acc:MGI:104671] |
| Ensembl ID | ENSMUSG00000021359 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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 mouse 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
phenotypes
- abnormal adrenal gland secretion
- abnormal aortic arch development
- abnormal aortic arch morphology
- abnormal apoptosis
- abnormal axial skeleton morphology
- abnormal cell death
- abnormal cochlear ganglion morphology
- abnormal cornea morphology
- abnormal cranial ganglia morphology
- abnormal cranial nerve morphology
- abnormal craniofacial development
- abnormal cranium morphology
- abnormal dorsal-ventral axis patterning
- abnormal facial morphology
- abnormal facial nerve morphology
- abnormal forebrain morphology
- abnormal glossopharyngeal ganglion morphology
- abnormal head morphology
- abnormal heart ventricle outflow tract morphology
- abnormal incus morphology
- abnormal iris morphology
- abnormal lateral nasal prominence morphology
- abnormal lens induction
- abnormal lens morphology
- abnormal lens vesicle development
- abnormal malleus morphology
- abnormal mandible morphology
- abnormal maxilla morphology
- abnormal maxillary prominence morphology
- abnormal medial nasal prominence morphology
- abnormal middle ear ossicle morphology
- abnormal nasal pit morphology
- abnormal neural fold elevation formation
- abnormal neural tube closure
- abnormal neurocranium morphology
- abnormal optic fissure closure
- abnormal optic stalk morphology
- abnormal pinna reflex
- abnormal premaxilla morphology
- abnormal retina morphology
- abnormal retinal pigment epithelium morphology
- abnormal secondary palate morphology
- abnormal stapes morphology
- abnormal thoracic cage morphology
- abnormal truncus arteriosus septation
- abnormal vagus ganglion morphology
- abnormal ventral body wall morphology
- abnormal vestibular ganglion morphology
- absent clavicle
- absent eyelids
- absent interparietal bone
- absent maxilla
- absent middle ear ossicles
- absent mouth
- absent nasal bone
- absent oculomotor nerve
- absent outer ear
- absent parietal bone
- absent pericardium
- absent pinna reflex
- absent radius
- absent retinal ganglion layer
- absent snout
- absent sternum
- absent tympanic ring
- acrania
- anencephaly
- aniridia
- anophthalmia
- cleft palate
- conductive hearing loss
- cranioschisis
- decreased body size
- decreased cochlear nerve compound action potential
- double outlet right ventricle
- exencephaly
- facial cleft
- incomplete rostral neuropore closure
- interrupted aortic arch
- midline facial cleft
- narrow snout
- no abnormal phenotype detected
- open neural tube
- perinatal lethality
- perinatal lethality complete penetrance
- persistent right dorsal aorta
- persistent truncus arteriosis
- polydactyly
- pulmonary valve atresia
- pulmonary valve stenosis
- pup cannibalization
- retroesophageal right subclavian artery
- scoliosis
- short mandible
- short maxilla
- short snout
- small frontal bone
- small lens
- small trigeminal ganglion
- small zygomatic bone
- splayed ribs
- thoracoabdominoschisis
- ventricular septal defect
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 mouse 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