Aliases for SETDB2 Gene
External Ids for SETDB2 Gene
Previous HGNC Symbols for SETDB2 Gene
Previous GeneCards Identifiers for SETDB2 Gene
This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
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 Lysine degradation and Chromatin organization. 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.