From large scale sequencing of a human fetal brain cDNA library, Cheng et al. (2002) identified a novel cDNA encoding transcription factor AP2-delta. The deduced 452-amino acid TFAP2D protein has a molecular mass of 49.6 kD. It shares homology with the transcription factor AP2 family of genes, especially within the C-terminal region, which contains the DNA-binding domain and homodimerization domain of AP2. RT-PCR indicated that the TFAP2D gene is highly expressed in brain, placenta, skeletal muscle, thymus, small intestine, and prostate. Low expression was detected in leukocytes, spleen, ovary, and colon, and almost no expression was observed in heart, kidney, liver, lung, and pancreas.

Cheng et al. (2002) determined that the TFAP2D gene contains 8 exons and spans approximately 60 kb of genomic DNA.

By sequence analysis, Cheng et al. (2002) mapped the TFAP2D gene to chromosome 6p21.1-p12.1. They noted that the TFAP2B gene (601601) maps to the same region.

Kaur et al. (2025) found that conditional double knockout of Sox4 (184430) and Sox11 (600898) postmitotic expression in mouse cerebral excitatory neurons disrupted laminar organization and axonal projections of cortical excitatory neurons, affecting development of ventrolateral pallial (VLp) in brain. Sox4 and Sox11 regulated development of VLp by regulating expression of Tfap2d in VLp. Tfap2d expression in VLp excitatory neurons was highly conserved across a broad spectrum of species, including human, and Tfap2d regulated basolateral and lateral development of VLp. Tfap2d -/- and Tfap2d +/- mice survived to adulthood, but the absence of 1 or both Tfap2d alleles resulted in altered connection between basolateral amygdala complex and prefrontal cortex, and Tfap2d-related BLC deficits increased threat response.