Protein Domain : Transcription factor AP-2 beta IPR008122

Type	Family
Description	Activator protein-2 (AP-2) transcription factors constitute a family of closely related and evolutionarily conserved proteins that bind to the DNA consensus sequence 5'-GCCNNNGGC-3' and stimulate target gene transcription [, ]. Five different isoforms of AP-2 have been identified in mammals, termed AP-2 alpha, beta, gamma, delta and epsilon. Each family member shares a common structure, possessing a proline/glutamine-rich domain in the N-terminal region, which is responsible for transcriptional activation [], and a helix-span-helix domain in the C-terminal region, which mediates dimerisation and site-specific DNA binding [].The AP-2 family have been shown to be critical regulators of gene expression during embryogenesis. They regulate the development of facial prominence and limb buds, and are essential for cranial closure and development of the lens [ , ]; they have also been implicated in tumorigenesis. AP-2 protein expression levels have been found to affect cell transformation, tumour growth and metastasis, and may predict survival in some types of cancer [, ]. Mutations in human AP-2 have been linked with bronchio-occular-facial syndrome and Char Syndrome, congenital birth defects characterised by craniofacial deformities and patent ductus arteriosus, respectively []. AP-2 beta was originally isolated by cDNA screening of a human genomic library []. The protein was designated AP-2 beta on the basis of its high sequence similarity to AP-2 alpha, its site-specific DNA binding, and its ability to stimulate transcription []. Defects in AP-2 beta have been shownto cause Char syndrome, an autosomal dominant trait characterised by patent ductus arteriosus, facial dysmorphism and hand anomalies.
Short Name	TF_AP2_beta