TFAP2A

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]

TFAP2A Transcription Factor AP-2 Alpha

Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region.

Biological Process anatomical structure developmentSource:GO_Central1 Publication
Biological Process bone morphogenesisSource:UniProtKB
Biological Process cellular response to iron ionSource:UniProtKB1 Publication
Biological Process embryonic cranial skeleton morphogenesisSource:UniProtKB
Biological Process embryonic forelimb morphogenesisSource:UniProtKB
Biological Process eyelid development in camera-type eyeSource:UniProtKB
Biological Process inner ear morphogenesisSource:UniProtKB1 Publication
Biological Process kidney developmentSource:UniProtKB1 Publication
Biological Process negative regulation of apoptotic processSource:UniProtKB1 Publication
Biological Process negative regulation of cell population proliferationSource:UniProtKB1 Publication
Biological Process negative regulation of DNA-templated transcriptionSource:UniProtKB1 Publication
Biological Process negative regulation of reactive oxygen species metabolic processSource:UniProtKB1 Publication
Biological Process negative regulation of transcription by competitive promoter bindingSource:UniProtKB1 Publication
Biological Process negative regulation of transcription by RNA polymerase IISource:UniProtKB2 Publications
Biological Process oculomotor nerve formationSource:UniProtKB
Biological Process optic cup structural organizationSource:UniProtKB
Biological Process optic vesicle morphogenesisSource:UniProtKB
Biological Process positive regulation of bone mineralizationSource:UniProtKB1 Publication
Biological Process positive regulation of DNA-templated transcriptionSource:UniProtKB1 Publication
Biological Process positive regulation of gene expressionSource:UniProtKB
Biological Process positive regulation of neuron apoptotic processSource:UniProtKB1 Publication
Biological Process positive regulation of tooth mineralizationSource:UniProtKB1 Publication
Biological Process positive regulation of transcription by RNA polymerase IISource:UniProtKB4 Publications
Biological Process regulation of cell differentiationSource:UniProtKB1 Publication
Biological Process regulation of cell population proliferationSource:GO_Central1 Publication
Biological Process regulation of transcription by RNA polymerase IISource:GO_Central1 Publication
Biological Process retina layer formationSource:UniProtKB1 Publication
Biological Process roof of mouth developmentSource:UniProtKB1 Publication
Biological Process sensory perception of soundSource:UniProtKB1 Publication
Biological Process trigeminal nerve developmentSource:UniProtKB

Nucleus

Branchiooculofacial syndrome (BOFS):
A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies.

Sumoylated on Lys-10; which inhibits transcriptional activity.