Aliases for TFAP2A Gene
External Ids for TFAP2A Gene
Previous HGNC Symbols for TFAP2A Gene
Previous GeneCards Identifiers for TFAP2A Gene
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]
GeneCards Summary for TFAP2A Gene
TFAP2A (Transcription Factor AP-2 Alpha) is a Protein Coding gene. Diseases associated with TFAP2A include Branchiooculofacial Syndrome and Lens Subluxation. Among its related pathways are Metabolism of proteins and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is TFAP2B.
UniProtKB/Swiss-Prot Summary for TFAP2A Gene
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.