DNMT3A

DNMT3A

Identifiers Symbols DNMT3A; DNMT3A2; M.HsaIIIA External IDs OMIM: 602769 MGI: 1261827 HomoloGene: 7294 ChEMBL: 1992 GeneCards: DNMT3A Gene EC number 2.1.1.37

Gene Ontology
Molecular function	• DNA binding • chromatin binding • DNA (cytosine-5-)-methyltransferase activity • protein binding • unmethylated CpG binding • metal ion binding • DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates
Cellular component	• chromosome, centromeric region • euchromatin • nucleus • nuclear heterochromatin • nucleolus • cytoplasm • nuclear matrix
Biological process	• negative regulation of transcription from RNA polymerase II promoter • DNA methylation • methylation-dependent chromatin silencing • regulation of gene expression by genetic imprinting • spermatogenesis • DNA methylation on cytosine within a CG sequence • DNA methylation involved in embryo development • DNA methylation involved in gamete generation • hypermethylation of CpG island • S-adenosylhomocysteine metabolic process • S-adenosylmethioninamine metabolic process • cellular response to amino acid stimulus
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 1788 13435 Ensembl ENSG00000119772 ENSMUSG00000020661 UniProt Q9Y6K1 O88508 RefSeq (mRNA) NM_022552 NM_001271753 RefSeq (protein) NP_072046 NP_001258682 Location (UCSC) Chr 2:
25.46 – 25.57 Mb Chr 12:
3.81 – 3.91 Mb PubMed search

DNA (cytosine-5)-methyltransferase 3A is an enzyme that in humans is encoded by the 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 the maintenance of existing methylated sites. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms.