DISEASES

Disease-gene associations mined from literature

Literature associating TFAP2D and branchiooculofacial syndrome

TFAP2D [ENSP00000008391]

Transcription factor AP-2 delta (activating enhancer binding protein 2 delta); 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 (By similarity).

Synonyms:  TFAP2D,  TFAP2Dp,  hTFAP2D,  Q7Z6R9,  TFAP2D-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM