Gene: TFAP2A

Alternate names for this Gene: AP-2|AP-2alpha|AP2TF|BOFS|TFAP2

Gene Summary: The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.3

Description of this Gene: transcription factor AP-2 alpha

Type of Gene: protein-coding

Gene: TFAP2A-AS2

Alternate names for this Gene: HIPSTR

Gene Summary: The product of this intronless gene is a capped lncRNA that is nuclear-enriched and associated with chromatin. The encoded transcript may be involved in the regulation of developmental gene expression in a context-dependent manner, functioning as a repressor in non-pluripotent cells and an activator in pluripotent cells. Transcription of this gene is activated in 8-cell human embryos during the major wave of zygotic genome activation, independently of and prior to the activation of TFAP2A, an overlapping gene found on the opposite strand. Expression of this gene is characterized by high cell-to-cell variability in the cells of totipotent human embryos and in stable cell lines.

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.3

Description of this Gene: TFAP2A antisense RNA 2

Type of Gene: ncRNA