DNMT3A
Summary: 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. [provided by RefSeq, Mar 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| DNA methyltransferase 3 alpha | MIM:602769 | Ensembl:ENSG00000119772 | HGNC:HGNC:2978 | PA27445 | 2p23.3 |
GO terms in DNMT3A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IEA | GO:0003682 | chromatin binding |
| MF | IDA | GO:0003886 | DNA (cytosine-5-)-methyltransferase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0009008 | DNA-methyltransferase activity |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
| CC | IEA | GO:0000775 | chromosome, centromeric region |
| CC | IDA | GO:0000791 | euchromatin |
| CC | IEA | GO:0001741 | XY body |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005720 | nuclear heterochromatin |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0016363 | nuclear matrix |
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0000278 | mitotic cell cycle |
| BP | IDA | GO:0006306 | DNA methylation |
| BP | IEA | GO:0006346 | methylation-dependent chromatin silencing |
| BP | TAS | GO:0006349 | regulation of gene expression by genetic imprinting |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IEA | GO:0007568 | aging |
| BP | IEA | GO:0010212 | response to ionizing radiation |
| BP | IEA | GO:0010288 | response to lead ion |
| BP | IEA | GO:0010942 | positive regulation of cell death |
| BP | IEA | GO:0030182 | neuron differentiation |
| BP | IEA | GO:0032355 | response to estradiol |
| BP | IEA | GO:0033189 | response to vitamin A |
| BP | IEA | GO:0042220 | response to cocaine |
| BP | IEA | GO:0043045 | DNA methylation involved in embryo development |
| BP | IEA | GO:0043046 | DNA methylation involved in gamete generation |
| BP | TAS | GO:0045814 | negative regulation of gene expression, epigenetic |
| BP | IEA | GO:0071230 | cellular response to amino acid stimulus |
| BP | IEA | GO:0071361 | cellular response to ethanol |
| BP | IEA | GO:0071456 | cellular response to hypoxia |
| BP | IEA | GO:0090116 | C-5 methylation of cytosine |
| BP | IEA | GO:0097284 | hepatocyte apoptotic process |
Gene expression in normal tissue: DNMT3A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DNMT3A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP241 | One Carbon Metabolism |
| wikipathways | WP2525 | Trans-sulfuration and one carbon metabolism |
| wikipathways | WP3657 | Hematopoietic Stem Cell Gene Regulation by GABP alpha-beta Complex |
| wikipathways | WP3940 | One carbon metabolism and related pathways |
| pid | myc_represspathway | Validated targets of C-MYC transcriptional repression |
| kegg | hsa00270 | Cysteine and methionine metabolism - Homo sapiens (human) |
| kegg | hsa05206 | MicroRNAs in cancer - Homo sapiens (human) |
| reactome | R-HSA-212165 | Epigenetic regulation of gene expression |
| reactome | R-HSA-212165 | Epigenetic regulation of gene expression |
| reactome | R-HSA-212300 | PRC2 methylates histones and DNA |
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-3214858 | RMTs methylate histone arginines |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-4655427 | SUMOylation of DNA methylation proteins |
| reactome | R-HSA-4839726 | Chromatin organization |
| reactome | R-HSA-5334118 | DNA methylation |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD74 | Idarubicin | 1 |
| iGMDRD65 | Daunorubicin | 3 |
| iGMDRD176 | Decitabine | 1 |
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DNMT3A
CLASSFICATION
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