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 Neuroscience and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. 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.