Disease-gene associations mined from literature

Literature associating TFAP2C and branchiooculofacial syndrome

TFAP2C [ENSP00000201031]

Transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma); 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. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.

Synonyms:  TFAP2C,  TFAP2Cp,  hTFAP2C,  A2A2R7,  B4DWK3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM