the protein, the location of its BEN domains, is highly conserved; however, the N-terminus is not well conserved, even within the order of Primates. Function BEND2 is predicted to be a DNA-binding protein due to the presence of BEN domains at its C-terminus, a hypothesis supported by its localization to the nucleus, the transcription factors found in its promoter region, and the nature of the proteins it interacts with. Though the precise function of the BEND2 protein is not yet well understood by the scientific community, BEN domains have been found to be important regulators of transcription. Clinical significance The diseases that have been linked to BEND2 are related to the central nervous system though expression of the gene is not highly observed in these tissues. BEND2 was identified as one of the genes that causes a central nervous system primitive neuroectodermal tumor when fused with the MN1 gene, which is located on chromosome 22. A rare primary central nervous system lymphoma tumor was found to have a high mutation ratio for BEND2; however, the authors do not describe this gene as primarily responsible for the tumor. A young girl diagnosed with severe epileptic encephalopathy was found to have a 300-kb deletion in a region that included BEND2, an extremely rare mutation not found in her parents’ genomes. An individual with adult autism was identified to have a copy-number variant of unknown significance in a region only containing BEND2. References Genes on human chromosome X