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transcription factor AP-2 beta (AP2-beta, activating enhancer-binding protein 2 beta, TFAP2B)
Function:
1) sequence-specific DNA-binding protein
2) interacts with inducible viral & cellular enhancer elements to regulate transcription of selected genes
3) AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' & activate genes involved in a large spectrum of biological functions including eye, face, body wall, limb & neural tube development
- also suppress genes including MCAM/MUC18, C/EBP alpha & MYC
4) AP-2 beta appears to be required for normal face & limb development & for terminal differentiation of renal tubular epithelia
5) binds DNA as a dimer
6) can form homodimers or heterodimers with other AP-2 family members
7) interacts with CITED4, UBE2I
8) sumoylation on Lys-10 inhibits transcriptional activity
Structure:
- belongs to the AP-2 family
Compartment: nucleus
Alternative splicing: named isoforms=2
Pathology:
- defects in TFAP2B are the cause of Char syndrome
General
DNA-binding protein
phosphoprotein
Properties
SIZE: MW = 49 kD
entity length = 449 aa
COMPARTMENT: cell nucleus
MOTIF: proline-rich region
SITE: 30-120
MOTIF: proline residue (SEVERAL)
Ser phosphorylation site {S247}
FOR-PHOSPHORYLATION-BY: protein kinase A
Database Correlations
OMIM correlations
MORBIDMAP 601601
UniProt Q92481
References
- UniProt :accession Q92481
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAP2B