DNMT3B
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 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| DNA methyltransferase 3 beta | MIM:602900 | Ensembl:ENSG00000088305 | HGNC:HGNC:2979 | PA27446 | 20q11.21 |
GO terms in DNMT3B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | NAS | GO:0006306 | DNA methylation |
| BP | TAS | GO:0006306 | DNA methylation |
| BP | IEA | GO:0009636 | response to toxic substance |
| BP | IEA | GO:0010212 | response to ionizing radiation |
| BP | IMP | GO:0010628 | positive regulation of gene expression |
| BP | IEA | GO:0014823 | response to activity |
| BP | IEA | GO:0031000 | response to caffeine |
| 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:0045666 | positive regulation of neuron differentiation |
| BP | TAS | GO:0045814 | negative regulation of gene expression, epigenetic |
| BP | IMP | GO:0051571 | positive regulation of histone H3-K4 methylation |
| BP | IMP | GO:0051573 | negative regulation of histone H3-K9 methylation |
| BP | IEA | GO:0071455 | cellular response to hyperoxia |
| BP | IEA | GO:0071549 | cellular response to dexamethasone stimulus |
| BP | IEA | GO:0090116 | C-5 methylation of cytosine |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0003677 | DNA binding |
| MF | IEA | GO:0003682 | chromatin binding |
| MF | IDA | GO:0003714 | transcription corepressor activity |
| MF | IMP | GO:0003714 | transcription corepressor activity |
| MF | IDA | GO:0003886 | DNA (cytosine-5-)-methyltransferase activity |
| MF | NAS | GO:0003886 | DNA (cytosine-5-)-methyltransferase activity |
| MF | TAS | GO:0003886 | DNA (cytosine-5-)-methyltransferase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | NAS | GO:0009008 | DNA-methyltransferase activity |
| MF | TAS | GO:0009008 | DNA-methyltransferase activity |
| MF | IEA | GO:0042826 | histone deacetylase binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: DNMT3B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DNMT3B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| 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-392499 | Metabolism of proteins |
| reactome | R-HSA-427413 | NoRC negatively regulates rRNA expression |
| reactome | R-HSA-4655427 | SUMOylation of DNA methylation proteins |
| reactome | R-HSA-5250941 | Negative epigenetic regulation of rRNA expression |
| 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) |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP241 | One Carbon Metabolism |
| wikipathways | WP2525 | Trans-sulfuration and one carbon metabolism |
| wikipathways | WP2857 | Mesodermal Commitment Pathway |
| wikipathways | WP3657 | Hematopoietic Stem Cell Gene Regulation by GABP alpha-beta Complex |
| kegg | hsa00270 | Cysteine and methionine metabolism - Homo sapiens (human) |
| kegg | hsa05206 | MicroRNAs in cancer - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD77 | Itraconazole | 3 |
| iGMDRD887 | Compound 23 citrate | 1 |
| iGMDRD399 | Selumetinib | 2 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD871 | BRD6368 | 2 |
| iGMDRD414 | MST-312 | 3 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD640 | CAY10618 | 1 |
| iGMDRD147 | Prima-1 | 1 |
| iGMDRD554 | CHEMBL1434137 | 1 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD599 | Salermide | 3 |
| iGMDRD446 | LY 2183240 | 2 |
| iGMDRD237 | ABT-751 | 3 |
| iGMDRD152 | 179324-69-7 | 2 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD394 | BX-795 | 2 |
| iGMDRD945 | ML214 | 2 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DNMT3B
CLASSFICATION
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