Aliases for TFAP2B Gene
External Ids for TFAP2B Gene
Previous GeneCards Identifiers for TFAP2B Gene
This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]
GeneCards Summary for TFAP2B Gene
TFAP2B (Transcription Factor AP-2 Beta) is a Protein Coding gene. Diseases associated with TFAP2B include Char Syndrome and Patent Ductus Arteriosus 2. Among its related pathways are SUMOylation and Metabolism of proteins. 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 TFAP2A.
UniProtKB/Swiss-Prot for TFAP2B 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-beta appears to be required for normal face and limb development and for proper terminal differentiation and function of renal tubular epithelia.