Aliases for DNMT3A Gene
External Ids for DNMT3A 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 that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for DNMT3A Gene
DNMT3A (DNA (Cytosine-5-)-Methyltransferase 3 Alpha) is a Protein Coding gene. Diseases associated with DNMT3A include tall stature-intellectual disability-facial dysmorphism syndrome and tatton-brown-rahman syndrome. Among its related pathways are MicroRNAs in cancer and Metabolism. GO annotations related to this gene include chromatin binding and unmethylated CpG binding. An important paralog of this gene is DNMT3L.
UniProtKB/Swiss-Prot for DNMT3A 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. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated Lys-36 of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity.
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.