KMT2D
Summary: The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| lysine methyltransferase 2D | MIM:602113 | Ensembl:ENSG00000167548 | HGNC:HGNC:7133 | PA30846 | 12q13.12 |
GO terms in KMT2D
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0003677 | DNA binding |
| MF | IBA | GO:0003713 | transcription coactivator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0018024 | histone-lysine N-methyltransferase activity |
| MF | IBA | GO:0042393 | histone binding |
| MF | IBA | GO:0042800 | histone methyltransferase activity (H3-K4 specific) |
| MF | TAS | GO:0042800 | histone methyltransferase activity (H3-K4 specific) |
| MF | IDA | GO:0044212 | transcription regulatory region DNA binding |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | ISS | GO:0001555 | oocyte growth |
| BP | ISS | GO:0006342 | chromatin silencing |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | NAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IMP | GO:0008284 | positive regulation of cell proliferation |
| BP | IMP | GO:0033148 | positive regulation of intracellular estrogen receptor signaling pathway |
| BP | IDA | GO:0043627 | response to estrogen |
| BP | TAS | GO:0045652 | regulation of megakaryocyte differentiation |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0048477 | oogenesis |
| BP | ISS | GO:0051568 | histone H3-K4 methylation |
| BP | TAS | GO:1904837 | beta-catenin-TCF complex assembly |
| CC | NAS | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IPI | GO:0035097 | histone methyltransferase complex |
| CC | IBA | GO:0044666 | MLL3/4 complex |
| CC | IDA | GO:0044666 | MLL3/4 complex |
Gene expression in normal tissue: KMT2D
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KMT2D
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
| kegg | hsa04934 | Cushing,s syndrome - Homo sapiens (human) |
| wikipathways | WP2369 | Histone Modifications |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-201722 | Formation of the beta-catenin:TCF transactivating complex |
| 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-3769402 | Deactivation of the beta-catenin transactivating complex |
| reactome | R-HSA-4839726 | Chromatin organization |
| reactome | R-HSA-5617472 | Activation of anterior HOX genes in hindbrain development during early embryogenesis |
| reactome | R-HSA-5619507 | Activation of HOX genes during differentiation |
| 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 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KMT2D
CLASSFICATION
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