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
- X-linked severe congenital neutropenia
- autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- isolated agammaglobulinemia
- recurrent Neisseria infections due to factor D deficiency
- autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
