KMT2D

Description		lysine methyltransferase 2D
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GO Annotations	Cellular Component	Nucleus Nucleoplasm Histone Methyltransferase Complex MLL3/4 Complex
	Molecular Function	Transcription Cis-regulatory Region Binding DNA Binding Transcription Coactivator Activity Protein Binding Methyltransferase Activity Zinc Ion Binding Transferase Activity Histone H3K4 Methyltransferase Activity Metal Ion Binding Histone H3K4 Monomethyltransferase Activity Histone H3K4 Trimethyltransferase Activity
	Biological Process	Oocyte Growth Chromatin Organization Regulation Of DNA-templated Transcription Positive Regulation Of Cell Population Proliferation Heterochromatin Formation Methylation Positive Regulation Of Intracellular Estrogen Receptor Signaling Pathway Response To Estrogen Positive Regulation Of Transcription By RNA Polymerase II Oogenesis Beta-catenin-TCF Complex Assembly
Pathways		Formation of the beta-catenin:TCF transactivating complex PKMTs methylate histone lysines Deactivation of the beta-catenin transactivating complex Activation of anterior HOX genes in hindbrain development during early embryogenesis RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function Formation of WDR5-containing histone-modifying complexes Epigenetic regulation of gene expression by MLL3 and MLL4 complexes MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Loss of Function of KMT2D in MLL4 Complex Formation in Kabuki Syndrome
Drugs
Diseases		Kabuki syndrome
GWAS		Chronotype ( 30696823) General cognitive ability ( 29844566) HDL cholesterol levels in HIV infection ( 33109212) Heel bone mineral density ( 30598549) Intelligence (MTAG) ( 29326435)
Novel Interacting Genes		2 novel interacting genes: SHMT2 TUBA1C
Interacting Genes		16 interacting genes: AKT1 ASH2L CREBBP CTNNB1 ESR1 H2AC4 H2BC3 H3C1 H3C14 H4C1 MEN1 POLR2A SMAD1 SMAD9 UBC USP7
Entrez ID		8085
HPRD ID		03664
Ensembl ID		ENSG00000167548
Uniprot IDs		O14686 Q59FG6 Q6PIA1
PDB IDs		3UVK 4ERQ 4Z4P 6O7G 8U2Y 9ATN
Enriched GO Terms of Interacting Partners?		Chromatin Remodeling Chromatin Organization Nucleus Structural Constituent Of Chromatin Nucleoplasm Nucleosome Protein-containing Complex I-SMAD Binding Protein-DNA Complex Assembly DNA Binding Chromosome Transcription Regulator Complex Stem Cell Differentiation Nucleosome Assembly Chromatin Binding Epigenetic Regulation Of Gene Expression Osteoblast Differentiation Nucleosome Organization Regulation Of Gene Expression Regulation Of Macromolecule Biosynthetic Process Protein Localization To Chromatin Protein Heterodimerization Activity SMAD Protein Complex Nitric-oxide Synthase Regulator Activity Heteromeric SMAD Protein Complex MLL1/2 Complex Cell Fate Commitment Involved In Formation Of Primary Germ Layer Regulation Of Macromolecule Metabolic Process Negative Regulation Of Oxidative Stress-induced Neuron Intrinsic Apoptotic Signaling Pathway Regulation Of Cell Population Proliferation Protein Deubiquitination Post-translational Protein Modification Intracellular Signaling Cassette Kinase Binding Positive Regulation Of Transcription By RNA Polymerase II Protein-containing Complex Assembly CENP-A Containing Nucleosome Protein Localization To CENP-A Containing Chromatin Cellular Response To Growth Factor Stimulus Hindbrain Development Protein Localization To Chromosome Gene Expression Regulation Of Oxidative Stress-induced Neuron Intrinsic Apoptotic Signaling Pathway Transcription By RNA Polymerase II Intracellular Signal Transduction Regulation Of Metabolic Process Protein Modification By Small Protein Removal Ubiquitin Protein Ligase Binding Response To Growth Factor Cellular Component Assembly
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