Recombinant Human Transcription factor AP-2-alpha (TFAP2A)

Uniprot Id

P05549

Target Species

Human

Target Name

TFAP2A

Target Full Name

Transcription factor AP-2-alpha

Target 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.

Target Involvement

Branchiooculofacial syndrome (BOFS)

Target Subcellular Location

Nucleus.

Target Protein Families

AP-2 family

Target Synonyms

Activating enhancer binding protein 2 alpha; Activating enhancer-binding protein 2-alpha; Activator protein 2; AP 2 transcription factor; AP 2alpha; AP-2; AP-2 transcription factor; AP2; AP2 Transcription Factor; AP2-alpha; AP2A_HUMAN; AP2TF; BOFS; FLJ51761; TFAP 2; TFAP 2A; TFAP2; TFAP2A; Transcription factor AP 2 alpha (activating enhancer binding protein 2 alpha); Transcription factor AP-2-alpha; Transcription factor AP2 alpha

Target Background

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.