Aliases for DNMT3B Gene
External Ids for DNMT3B Gene
Previous GeneCards Identifiers for DNMT3B Gene
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]
GeneCards Summary for DNMT3B Gene
DNMT3B (DNA (Cytosine-5-)-Methyltransferase 3 Beta) is a Protein Coding gene. Diseases associated with DNMT3B include immunodeficiency-centromeric instability-facial anomalies syndrome 1 and immunodeficiency, centromere instability and facial anomalies syndrome. Among its related pathways are Gene Expression and Metabolism. GO annotations related to this gene include transcription corepressor activity and unmethylated CpG binding. An important paralog of this gene is LOC102724184.
UniProtKB/Swiss-Prot for DNMT3B Gene
Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Function as transcriptional corepressor by associating with ZHX1.
Protein arginine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the arginine residues on histones and other proteins. The dysregulation of this methylation is critical in the development of certain cancers.