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

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
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Gene expression in normal tissue: KMT2D

Gene-model tissue-cancer distribution: Bubble Plot

LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: Lung Squamous Cell Carcinoma (LUSC) model num: 1

Gene-drug pathway distribution

Prostate cancer1

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
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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

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