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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:602113 Ensembl IDEnsembl:ENSG00000167548 HGNC IDHGNC:HGNC:7133 PHARMGKB IDPA30846 Map Location12q13.12 | |||||
GO terms in KMT2D
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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 |
Gene expression in normal tissue: KMT2D
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KMT2D
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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 |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD12 | Bicalutamide | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KMT2D
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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