Organization and conservation within the GATA2 locus. (A) GATA2 locus. The 3 identified isoforms of human GATA2 are shown with the associated GERP, DNaseI hypersensitive sites, and reported transcription factor binding sites.^36,37  (B) The conserved region within intron 5 including the composite element encompassing an E-box and GATA motifs and the ETS motif. Bold text denotes motifs for transcription factor binding. Underline denotes deletion in patient 6.II.1; *recurrent ETS motif point mutation, c.1017+572C>T. Figure modified from UCSC browser.