DISEASES

Disease-gene associations mined from literature

Literature associating TFAP2E and branchiooculofacial syndrome

TFAP2E [ENSP00000362332]

Transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon); 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-epsilon may play a role in the development of the CNS and in cartilage differentiation (By similarity).

Synonyms:  TFAP2E,  TFAP2Ep,  hTFAP2E,  Q6VUC0,  Q6VUC0p ...

Linkouts:  STRING  Pharos  UniProt  OMIM