TFAP2A

Domain

The PPxY motif mediates interaction with WWOX.

Function

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.

Involvement in disease

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Sumoylated on Lys-10; which inhibits transcriptional activity.

Sequence Similarities

Belongs to the AP-2 family.

Cellular localization

• Nucleus

Alternative names

AP2TF, TFAP2, TFAP2A, Transcription factor AP-2-alpha, AP2-alpha, AP-2 transcription factor, Activating enhancer-binding protein 2-alpha, Activator protein 2, AP-2

Database links

swissprot:P05549 entrezGene:7021 entrezGene:7020 swissprot:Q92481 omim:601601 omim:107580