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 Chromatin organization and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. 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.