TFAP2A, Official Symbol TFAP2Aprovided by HGNC Official Full Name transcription factor AP-2 alphaprovided by HGNC Primary source HGNC:HGNC:11742 See related Ensembl:ENSG00000137203 MIM:107580; AllianceGenome:HGNC:11742 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AP-2; BOFS; AP2TF; TFAP2; AP-2alpha 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.[provided by RefSeq, Dec 2009] Expression Biased expression in skin (RPKM 17.3), placenta (RPKM 12.3) and 5 other tissues See more Orthologs mouse all