Ap-2 Beta (TFAP2B) Antibody – Rabbit Polyclonal

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]

AP-2 beta: 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. 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. Belongs to the AP-2 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 6p12

Cellular Component: nucleus

Molecular Function: protein dimerization activity; protein binding; protein homodimerization activity; DNA binding; protein heterodimerization activity; sequence-specific DNA binding; transcription coactivator activity; caspase inhibitor activity; chromatin binding; transcription corepressor activity; transcription factor activity

Biological Process: skin development; fat cell differentiation; transcription from RNA polymerase II promoter; hindlimb morphogenesis; response to lithium ion; positive regulation of transcription, DNA-dependent; regulation of BMP signaling pathway; negative regulation of transcription from RNA polymerase II promoter; negative regulation of caspase activity; glucose homeostasis; calcium ion homeostasis; forelimb morphogenesis; negative regulation of cell proliferation; sympathetic nervous system development; regulation of transcription, DNA-dependent; regulation of cell differentiation; positive regulation of neuron apoptosis; positive regulation of cell proliferation; sodium ion homeostasis; phosphate ion homeostasis; negative regulation of neuron apoptosis; kidney development; potassium ion homeostasis; response to drug; glucose metabolic process; renal water homeostasis; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; regulation of insulin secretion; negative regulation of apoptosis

Disease: Char Syndrome