SHMT2 and KMT2D

		SHMT2	KMT2D
Description		serine hydroxymethyltransferase 2	lysine methyltransferase 2D
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GO Annotations	Cellular Component	Nucleus Cytoplasm Mitochondrion Mitochondrial Inner Membrane Mitochondrial Matrix Microtubule Cytoskeleton Membrane Mitochondrial Nucleoid Intracellular Organelle Lumen Extracellular Exosome BRISC Complex	Nucleus Nucleoplasm Histone Methyltransferase Complex MLL3/4 Complex
	Molecular Function	Chromatin Binding Glycine Hydroxymethyltransferase Activity Protein Binding L-allo-threonine Aldolase Activity Amino Acid Binding Transferase Activity Pyridoxal Phosphate Binding Identical Protein Binding	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	Regulation Of Oxidative Phosphorylation Regulation Of Translation Glycine Metabolic Process Glycine Biosynthetic Process L-serine Metabolic Process L-serine Biosynthetic Process One-carbon Metabolic Process Positive Regulation Of Cell Population Proliferation Formate Biosynthetic Process Glycine Biosynthetic Process From Serine Response To Type I Interferon Tetrahydrofolate Interconversion Tetrahydrofolate Metabolic Process Protein Tetramerization Protein Homotetramerization Regulation Of Mitochondrial Translation Protein K63-linked Deubiquitination Regulation Of Aerobic Respiration	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		Metabolism of folate and pterines RHOG GTPase cycle Mitochondrial protein degradation	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		Pyridoxal phosphate Tetrahydrofolic acid Glycine Artenimol
Diseases			Kabuki syndrome
GWAS		Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) ( 31835028) Asthma ( 31619474) Autism spectrum disorder or schizophrenia ( 28540026) Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) ( 31374203) Schizophrenia ( 25056061 29483656)	Chronotype ( 30696823) General cognitive ability ( 29844566) HDL cholesterol levels in HIV infection ( 33109212) Heel bone mineral density ( 30598549) Intelligence (MTAG) ( 29326435)
Interacting Genes		15 interacting genes: APP ARL6IP1 BRCC3 CAB39 CLEC2D CMTM5 CREB3 CSNK2B DUX4 ESR1 KASH5 MAL2 NDRG1 OGT PPARD	16 interacting genes: AKT1 ASH2L CREBBP CTNNB1 ESR1 H2AC4 H2BC3 H3C1 H3C14 H4C1 MEN1 POLR2A SMAD1 SMAD9 UBC USP7
Entrez ID		6472	8085
HPRD ID		00717	03664
Ensembl ID		ENSG00000182199	ENSG00000167548
Uniprot IDs		B4DJQ3 B4DLV4 P34897 Q5BJF5 V9HW06	O14686 Q59FG6 Q6PIA1
PDB IDs		4PVF 5V7I 5X3V 6DK3 6H3C 6M5O 6QVG 6QVL 6R8F 7BYI 8AQL 8FJT 8FJU 8GKS 8GKT 8GKU 8GKW 8GKY 8GKZ 8QI7 8SSJ 8T4O 8T4P 8TLC 9BOX	3UVK 4ERQ 4Z4P 6O7G 8U2Y 9ATN
Enriched GO Terms of Interacting Partners?		Negative Regulation Of MiRNA Transcription Signal Transduction Release From Viral Latency Positive Regulation Of Activin Receptor Signaling Pathway Regulation Of Glycolytic Process Regulation Of Carbohydrate Catabolic Process Regulation Of ATP Metabolic Process Regulation Of MiRNA Transcription Neuron Remodeling Regulation Of Purine Nucleotide Metabolic Process Protein Kinase Regulator Activity Regulation Of MiRNA Metabolic Process Peptidyl-threonine Phosphorylation Serine/threonine Protein Kinase Complex Intracellular Signal Transduction Protein Serine/threonine Kinase Binding Positive Regulation Of Monocyte Chemotaxis Nuclear Steroid Receptor Activity Protein-containing Complex Regulation Of Activin Receptor Signaling Pathway Amyloid-beta Complex Regulation Of Endoplasmic Reticulum Stress-induced Intrinsic Apoptotic Signaling Pathway Growth Cone Lamellipodium Positive Regulation Of Nitric Oxide Biosynthetic Process Regulation Of Toll-like Receptor Signaling Pathway Regulation Of Response To Calcium Ion Regulation Of Cell Population Proliferation Amylin Binding Neuron Maturation Cell Maturation Positive Regulation Of Toll Signaling Pathway Regulation Of Small Molecule Metabolic Process Positive Regulation Of Small Molecule Metabolic Process Protein-containing Complex Assembly Regulation Of Generation Of Precursor Metabolites And Energy Regulation Of Monocyte Chemotaxis Positive Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Insulin Secretion Involved In Cellular Response To Glucose Stimulus 14-3-3 Protein Binding Developmental Process Involved In Reproduction Cellular Response To Stress Intracellularly ATP-gated Chloride Channel Activity Positive Regulation Of Voltage-gated Chloride Channel Activity Sec61 Translocon Complex Binding Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Hormone-mediated Signaling Pathway Negative Regulation Of Myoblast Differentiation NF-kappaB Binding Linoleic Acid Binding Beta-catenin-TCF Complex Assembly	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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