TFAP2B

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]

TFAP2B

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.

Biological Process anatomical structure developmentSource:GO_Central1 Publication
Biological Process aorta morphogenesisSource:UniProtKB
Biological Process calcium ion homeostasisSource:UniProtKB
Biological Process cellular ammonium homeostasisSource:UniProtKB
Biological Process cellular creatinine homeostasisSource:UniProtKB
Biological Process cellular urea homeostasisSource:UniProtKB
Biological Process collecting duct developmentSource:UniProtKB
Biological Process distal tubule developmentSource:UniProtKB
Biological Process ductus arteriosus closureSource:UniProtKB
Biological Process fat cell differentiationSource:UniProtKB1 Publication
Biological Process forelimb morphogenesisSource:UniProtKB
Biological Process glucose homeostasisSource:UniProtKB
Biological Process glucose metabolic processSource:UniProtKB3 Publications
Biological Process hindlimb morphogenesisSource:UniProtKB
Biological Process kidney developmentSource:UniProtKB
Biological Process magnesium ion homeostasisSource:UniProtKB
Biological Process metanephric nephron developmentSource:Ensembl
Biological Process negative regulation of apoptotic processSource:GO_Central1 Publication
Biological Process negative regulation of cell population proliferationSource:UniProtKB1 Publication
Biological Process negative regulation of DNA-templated transcriptionSource:UniProtKB1 Publication
Biological Process negative regulation of neuron apoptotic processSource:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IISource:UniProtKB1 Publication
Biological Process neuron apoptotic processSource:Ensembl
Biological Process phosphate ion homeostasisSource:UniProtKB
Biological Process positive regulation of cell population proliferationSource:UniProtKB1 Publication
Biological Process positive regulation of DNA-templated transcriptionSource:GO_Central1 Publication
Biological Process positive regulation of neuron apoptotic processSource:UniProtKB1 Publication
Biological Process positive regulation of transcription by RNA polymerase IISource:HGNC-UCL2 Publications
Biological Process positive regulation of urine volumeSource:UniProtKB
Biological Process potassium ion homeostasisSource:UniProtKB
Biological Process regulation of BMP signaling pathwaySource:UniProtKB
Biological Process regulation of cell differentiationSource:UniProtKB1 Publication
Biological Process regulation of cell population proliferationSource:GO_Central1 Publication
Biological Process regulation of insulin secretionSource:UniProtKB2 Publications
Biological Process regulation of transcription by RNA polymerase IISource:GO_Central1 Publication
Biological Process renal water homeostasisSource:UniProtKB
Biological Process response to xenobiotic stimulusSource:Ensembl
Biological Process retina layer formationSource:UniProtKB1 Publication
Biological Process skin developmentSource:Ensembl
Biological Process smooth muscle tissue developmentSource:Ensembl
Biological Process sodium ion homeostasisSource:UniProtKB
Biological Process sympathetic nervous system developmentSource:UniProtKB
Biological Process transcription by RNA polymerase IISource:Ensembl

Nucleus
In the brain, localizes to the arcuate hypothalamic nucleus, the ventromedial hypothalamic nucleus and the accumbens nucleus of the ventral striatum.

Char syndrome (CHAR):
An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
Patent ductus arteriosus 2 (PDA2):
A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth.

Sumoylated on Lys-21; which inhibits transcriptional activity.