SETDB2


Description

The SETDB2 (SET domain bifurcated histone lysine methyltransferase 2) is a protein-coding gene located on chromosome 13.

SETDB2 is a histone methyltransferase that plays a crucial role in various cellular processes, including left-right axis specification during early development and mitosis. It specifically trimethylates lysine 9 of histone H3 (H3K9me3), a modification associated with transcriptional repression. This methylation event recruits HP1 proteins (CBX1, CBX3, and/or CBX5) to methylated histones, further reinforcing gene silencing. SETDB2 contributes to H3K9me3 in both interspersed repetitive elements and centromere-associated repeats. Moreover, it is involved in chromosome condensation and proper segregation during mitosis.

SETDB2 is also known as C13orf4, CLLD8, CLLL8, KMT1F.

Associated Diseases


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