KMT2E
Summary: This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| lysine methyltransferase 2E | MIM:608444 | Ensembl:ENSG00000005483 | HGNC:HGNC:18541 | PA38568 | 7q22.3 |
GO terms in KMT2E
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0018024 | histone-lysine N-methyltransferase activity |
| MF | TAS | GO:0018024 | histone-lysine N-methyltransferase activity |
| MF | IPI | GO:0019899 | enzyme binding |
| MF | IDA | GO:0035064 | methylated histone binding |
| MF | IMP | GO:0035064 | methylated histone binding |
| MF | IEA | GO:0046872 | metal ion binding |
| CC | IDA | GO:0000785 | chromatin |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IEA | GO:0005815 | microtubule organizing center |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0016607 | nuclear speck |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | IDA | GO:0035327 | transcriptionally active chromatin |
| BP | ISS | GO:0002446 | neutrophil mediated immunity |
| BP | ISS | GO:0006306 | DNA methylation |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0007050 | cell cycle arrest |
| BP | ISS | GO:0030218 | erythrocyte differentiation |
| BP | IEA | GO:0034968 | histone lysine methylation |
| BP | ISS | GO:0042119 | neutrophil activation |
| BP | TAS | GO:0045652 | regulation of megakaryocyte differentiation |
| BP | IMP | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IMP | GO:1900087 | positive regulation of G1/S transition of mitotic cell cycle |
| BP | IMP | GO:1905437 | positive regulation of histone H3-K4 trimethylation |
Gene expression in normal tissue: KMT2E
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KMT2E
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| 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-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8936459 | RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function |
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
| wikipathways | WP2369 | Histone Modifications |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KMT2E
CLASSFICATION
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