TFAP2B
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.
Involvement in disease
Char syndrome
CHAR
An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Sumoylated on Lys-21; which inhibits transcriptional activity.
Sequence Similarities
Belongs to the AP-2 family.
Cellular localization
- Nucleus
- In the brain, localizes to the arcuate hypothalamic nucleus, the ventromedial hypothalamic nucleus and the accumbens nucleus of the ventral striatum.
Alternative names
Transcription factor AP-2-beta, AP2-beta, Activating enhancer-binding protein 2-beta, TFAP2B