Aliases for SETDB2 Gene
External Ids for SETDB2 Gene
Previous Symbols for SETDB2 Gene
Proteins that contain a SET domain, such as SETDB2, modulate gene expression epigenetically through histone H3 (see MIM 601128) methylation. SETDB2 is likely a histone H3 methyltransferase, as it contains both the active site and flanking cysteine residues required for catalytic activity (Zhang et al., 2003 [PubMed 12754510]).[supplied by OMIM, Mar 2008]
GeneCards Summary for SETDB2 Gene
SETDB2 (SET Domain, Bifurcated 2) is a Protein Coding gene. Diseases associated with SETDB2 include chronic lymphocytic leukemia and leukemia. Among its related pathways are Lysine degradation. GO annotations related to this gene include histone methyltransferase activity (H3-K9 specific). An important paralog of this gene is EHMT1.
UniProtKB/Swiss-Prot for SETDB2 Gene
Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates Lys-9 of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and segregation during mitosis.