TFAP2C
Description
The TFAP2C (transcription factor AP-2 gamma) is a protein-coding gene located on chromosome 20.
TFAP2C encodes a protein called AP-2 gamma, which is a member of the activating protein 2 family of transcription factors. AP-2 gamma plays a crucial role in early development, particularly in morphogenesis, the formation of shape. It regulates gene transcription by binding to the sequence 5'-GCCNNNGGC-3' and interacting with viral and cellular enhancing components. AP-2 gamma activates genes essential for placenta development and retinoic acid-mediated differentiation of the eyes, face, body wall, limbs, and neural tube. It also suppresses genes such as MYC and C/EBP alpha. Furthermore, it represses CD44 expression, a cell marker for some breast and prostate cancers. Mutations in TFAP2C can result in poorly developed placenta and tissues. A mutated TFAP2C gene is known to cause branchiooculofacial syndrome (BOFS), a disease characterized by facial and neck abnormalities, including cleft lip or anophthalmia (lack of eyeballs), that develop before birth. Complete knockout of the TFAP2C gene leads to placenta malformation and embryonic/fetal death.
TFAP2C encodes a sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. The protein binds to the consensus sequence 5'-GCCNNNGGC-3' and activates genes involved in various developmental processes, including eye, face, body wall, limb, and neural tube development. It also suppresses several genes including MCAM/MUC18, C/EBP alpha, and MYC. TFAP2C is involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer.
TFAP2C is also known as AP2-GAMMA, ERF1, TFAP2G, hAP-2g.
