TFAP2A/TFAP2B

alternative products:Experimental confirmation may be lacking for some isoforms,disease:Defects in TFAP2A are the cause of branchiooculofacial syndrome (BOFS) [MIM:113620]; also known as branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging or lip pseudocleft-hemangiomatous branchial cyst syndrome. BOFS is a rare autosomal dominant cleft palate craniofacial disorder with variable expressivity. The major features include cutaneous anomalies, ocular anomalies, characteristic facial appearance (malformed pinnae, oral clefts), and, less commonly, renal and ectodermal (dental and hair) anomalies.,domain:The WW-binding motif mediates interaction with WWOX.,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 alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle.,online information:Activatin protein 2 entry,PTM:Sumoylated on Lys-10; which inhibits transcriptional activity.,similarity:Belongs to the AP-2 family.,subunit:Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. Interacts with WWOX. Interacts with CITED4. Interacts with UBE2I. Interacts with RALBP1 in a complex also containing EPN1 and NUMB during interphase and mitosis.,

skeletal system development, embryonic epithelial tube formation, neural tube formation, neural tube closure,morphogenesis of an epithelium, transcription, regulation of transcription, DNA-dependent, regulation of transcription from RNA polymerase II promoter, ectoderm development, embryonic development ending in birth or egg hatching,primary neural tube formation, morphogenesis of embryonic epithelium, anterior neuropore closure, neural tube development, neuropore closure, tube lumen formation, tube morphogenesis, tube development, chordate embryonic development, regulation of transcription, embryonic organ morphogenesis, embryonic organ development, embryonic morphogenesis, embryonic cranial skeleton morphogenesis, embryonic skeletal system morphogenesis, skeletal system morphogenesis, embryonic skeletal system development, tissue morphogenesis, regulation of RNA metabolic process, epithelium development, epithelial tube morphogenesis, tube closure,

Nucleus .