Fig. 3: Schematic diagram of CTCF domain structure and the distribution of various disease-associated mutations.
From: Enhancer–promoter specificity in gene transcription: molecular mechanisms and disease associations
CTCF is characterized by a central 11 zinc-finger (ZnF) DNA-binding domain. ZnF3-7 (green) mediate binding to the core CTCF DNA motif. The IUPred3 disorder plot168 indicates the presence of an intrinsically disordered region (IDR) in the C-terminus. ZnF1, ZnF10, and part of the IDR domain are involved in RNA binding (orange). The relative position of a subset of documented disease-linked CTCF mutations is also indicated, with those implicated in neurodevelopmental disorders and diverse cancers colored in blue and red, respectively132,134,135,169,170,171,172.
