Vectors for Human LOC106014249

This region encompasses cis-acting enhancers and other elements that regulate transcription from the P0 and P1 promoters of the paired box 6 (PAX6) gene. These elements are bound by transcription factors such as Tfcp2 (transcription factor CP2). Binding by the Pax6 protein may allow for autoregulation of PAX6 transcription. Studies of the corresponding sequence in mouse suggest that enhancers in this region may function to direct expression of PAX6 to specific tissues, such as the lens and pancreas. Five subregions were validated as active enhancers by ChIP-STARR-seq in human embryonic stem cells, where one is associated with both the OCT4 and NANOG transcription factors, two are marked by the H3K27ac and H3K4me1 histone modifications, one is marked by H3K4me1 only, and one is associated with NANOG and marked by both H3K27ac and H3K4me1. [provided by RefSeq, Nov 2022]