Entrez gene ID | | 7020 |
Official gene symbol | | TFAP2A |
Full name | | transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) |
Aliases | | ,AP-2,AP-2alpha,AP2TF,BOFS,FLJ51761,TFAP2, |
Gene 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. |
Location | | Chromosome: 6 Locus: 6p24 |
Gene position | | 10419797 - 10396916 Map Viewer |
Gene orientation | | minus |
Gene size | | 22882 bp |
Gene sequence |
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OMIM ID | | 107580 |