DISEASES

Disease-gene associations mined from literature

Literature associating TFAP2A and microphthalmia

TFAP2A [ENSP00000368924]

Transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha); 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-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region.

Synonyms:  TFAP2A,  TFAP2Ap,  hTFAP2A,  C1K3N0,  C9J6N8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM