Aliases for SETDB2 Gene
External Ids for SETDB2 Gene
Previous HGNC Symbols for SETDB2 Gene
Previous GeneCards Identifiers 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. Among its related pathways are Chromatin organization and Lysine degradation. GO annotations related to this gene include histone-lysine N-methyltransferase activity and 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.