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 Familial Patent Arterial Duct. Among its related pathways are Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors and Gene Expression. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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.