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TFAP2A

Synonyms
AP-2, AP-2alpha, AP2TF, BOFS, TFAP2
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
772
Likely benign
630
Benign
854

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TFAP2A gene.

Phenotype class
Patients in 3billion (%)

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