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 MicroRNAs in cancer and Metabolism. GO annotations related to this gene include transcription corepressor activity and DNA-methyltransferase activity. An important paralog of this gene is DNMT3A.
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.
DNA methyltransferase (DNMT) add methyl groups to DNA to effect gene expression. There are three types of DNMTs. DNMT1 is predominately responsible for hemimethylated CpG island methylation, DNMT2 in fact transfers methyl groups to RNA not DNA, hence has been renamed to tRNA aspartic acid methyltransferase 1 (TRDMT1) and DNMT3 is responsible for unmethylated CpG island methylation.