TFAP2B Antibody – Mouse Monoclonal

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]

Function: 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. Ref.6

Subunit structure: Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. Interacts with CITED4. Interacts with UBE2I. Interacts with KCTD1; this interaction represses transcription activation. Interacts with CITED2 (via C-terminus); the interaction stimulates TFAP2B-transcriptional activity. Ref.6 Ref.7 Ref.8 Ref.9 Ref.10

Subcellular location: Nucleus

Probable.

Post-translational modification: Sumoylated on Lys-21; which inhibits transcriptional activity

Probable. Ref.8

Involvement in disease: Char syndrome (CHAR) [MIM:169100]: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12

Sequence similarities: Belongs to the AP-2 family.

Sequence caution: The sequence CAA64990.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence CAA71047.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence CAB41305.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence CAC01130.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.