DISEASES

Disease-gene associations mined from literature

Literature associating TFAP2B and Char syndrome

TFAP2B [ENSP00000377265]

Transcription factor AP-2 beta (activating enhancer binding protein 2 beta); 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.

Synonyms:  TFAP2B,  TFAP2Bp,  hTFAP2B,  A8K557,  Q92481 ...

Linkouts:  STRING  Pharos  UniProt  OMIM