KMT2A
Summary: This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| lysine methyltransferase 2A | MIM:159555 | Ensembl:ENSG00000118058 | HGNC:HGNC:7132 | PA241 | 11q23.3 |
GO terms in KMT2A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0006306 | DNA methylation |
| BP | TAS | GO:0006366 | transcription by RNA polymerase II |
| BP | IEA | GO:0006915 | apoptotic process |
| BP | IEA | GO:0008285 | negative regulation of cell proliferation |
| BP | IEA | GO:0008542 | visual learning |
| BP | IEA | GO:0009791 | post-embryonic development |
| BP | IEA | GO:0009952 | anterior/posterior pattern specification |
| BP | IEA | GO:0018026 | peptidyl-lysine monomethylation |
| BP | IMP | GO:0032411 | positive regulation of transporter activity |
| BP | ISS | GO:0032922 | circadian regulation of gene expression |
| BP | TAS | GO:0035162 | embryonic hemopoiesis |
| BP | IEA | GO:0035640 | exploration behavior |
| BP | IEA | GO:0035864 | response to potassium ion |
| BP | IMP | GO:0043984 | histone H4-K16 acetylation |
| BP | IEA | GO:0044648 | histone H3-K4 dimethylation |
| BP | TAS | GO:0045652 | regulation of megakaryocyte differentiation |
| BP | IMP | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048172 | regulation of short-term neuronal synaptic plasticity |
| BP | IEA | GO:0048536 | spleen development |
| BP | IEA | GO:0048873 | homeostasis of number of cells within a tissue |
| BP | IDA | GO:0051568 | histone H3-K4 methylation |
| BP | IMP | GO:0051568 | histone H3-K4 methylation |
| BP | ISS | GO:0051571 | positive regulation of histone H3-K4 methylation |
| BP | IEA | GO:0051899 | membrane depolarization |
| BP | IEA | GO:0060216 | definitive hemopoiesis |
| BP | IDA | GO:0065003 | protein-containing complex assembly |
| BP | ISS | GO:0071440 | regulation of histone H3-K14 acetylation |
| BP | IDA | GO:0080182 | histone H3-K4 trimethylation |
| BP | IEA | GO:1901674 | regulation of histone H3-K27 acetylation |
| BP | TAS | GO:1902036 | regulation of hematopoietic stem cell differentiation |
| BP | IMP | GO:1905642 | negative regulation of DNA methylation |
| BP | ISS | GO:2000615 | regulation of histone H3-K9 acetylation |
| BP | IMP | GO:2001040 | positive regulation of cellular response to drug |
| CC | IDA | GO:0005634 | nucleus |
| CC | NAS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0035097 | histone methyltransferase complex |
| CC | IDA | GO:0071339 | MLL1 complex |
| MF | ISS | GO:0000980 | RNA polymerase II distal enhancer sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0003680 | AT DNA binding |
| MF | IEA | GO:0003682 | chromatin binding |
| MF | NAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008270 | zinc ion binding |
| MF | TAS | GO:0018024 | histone-lysine N-methyltransferase activity |
| MF | EXP | GO:0042800 | histone methyltransferase activity (H3-K4 specific) |
| MF | IDA | GO:0042800 | histone methyltransferase activity (H3-K4 specific) |
| MF | IMP | GO:0042800 | histone methyltransferase activity (H3-K4 specific) |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | IDA | GO:0044212 | transcription regulatory region DNA binding |
| MF | IDA | GO:0045322 | unmethylated CpG binding |
| MF | IDA | GO:0070577 | lysine-acetylated histone binding |
Gene expression in normal tissue: KMT2A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KMT2A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3214841 | PKMTs methylate histone lysines |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
| reactome | R-HSA-4839726 | Chromatin organization |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8936459 | RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function |
| reactome | R-HSA-8939236 | RUNX1 regulates transcription of genes involved in differentiation of HSCs |
| reactome | R-HSA-8939236 | RUNX1 regulates transcription of genes involved in differentiation of HSCs |
| wikipathways | WP2369 | Histone Modifications |
| wikipathways | WP615 | Senescence and Autophagy in Cancer |
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
| kegg | hsa04934 | Cushing,s syndrome - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD420 | Leucascandrolide A | 2 |
| iGMDRD554 | CHEMBL1434137 | 1 |
| iGMDRD151 | CHM-1 | 1 |
| iGMDRD483 | SCH-529074 | 1 |
| iGMDRD779 | PRL-3 Inhibitor I | 1 |
| iGMDRD546 | BMS-754807 | 1 |
| iGMDRD678 | Tubastatin A | 1 |
| iGMDRD152 | 179324-69-7 | 3 |
| iGMDRD193 | Fqi1 | 3 |
| iGMDRD61 | Kinetin riboside | 5 |
| iGMDRD639 | YK 4-279 | 2 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD380 | Pifithrin-alpha | 1 |
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD280 | CYTOCHALASIN B | 2 |
| iGMDRD802 | 4-methylfasudil | 3 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD260 | FQI-2 | 1 |
| iGMDRD247 | Blebbistatin | 4 |
| iGMDRD318 | PAC-1 | 8 |
| iGMDRD224 | Necrostatin-1 | 2 |
| iGMDRD506 | Fedratinib | 2 |
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD835 | BET inhibitor | 1 |
| iGMDRD893 | DOT1L inhibitor | 1 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD60 | Quinoclamine | 6 |
| iGMDRD690 | PRIMA-1MET | 2 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD84 | Lovastatin acid | 2 |
| iGMDRD424 | Tamatinib | 6 |
| iGMDRD560 | MK-2206 | 2 |
| iGMDRD219 | Bax channel blocker | 7 |
| iGMDRD57 | Chloropentafluorobenzene | 3 |
| iGMDRD85 | Ursolic acid | 2 |
| iGMDRD511 | CHEMBL399379 | 2 |
| iGMDRD65 | Daunorubicin | 1 |
| iGMDRD177 | Teniposide | 2 |
| iGMDRD917 | HDAC inhibitor | 1 |
| iGMDRD434 | BMS-536924 | 4 |
| iGMDRD6 | AM-580 | 2 |
| iGMDRD221 | Tamoxifen | 1 |
| iGMDRD289 | Parthenolide | 1 |
| iGMDRD366 | PI-103 | 2 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD286 | Nsc 632839 | 4 |
| iGMDRD82 | Quiflapon | 1 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD42 | Vorinostat | 2 |
| iGMDRD552 | AZD-1775 | 2 |
| iGMDRD505 | Pevonedistat | 5 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KMT2A
CLASSFICATION
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