H2BC3 and KMT2D

Number of citations: 84 (PubMedID 36598580)
Data Source: BioGRID (pull down)

		H2BC3	KMT2D
Name		H2B clustered histone 3	lysine methyltransferase 2D
Structure
GO Annotations	Cellular Component	Chromosome, Telomeric Region Nucleosome Nucleus Nucleoplasm Chromosome Cytosol	Nucleus Nucleoplasm Histone Methyltransferase Complex MLL3/4 Complex
	Molecular Function	DNA Binding Protein Binding Structural Constituent Of Chromatin Protein Heterodimerization Activity	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	Nucleosome Assembly	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		Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Cleavage of the damaged purine Meiotic synapsis Packaging Of Telomere Ends Pre-NOTCH Transcription and Translation Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex PRC2 methylates histones and DNA Condensation of Prophase Chromosomes Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) DNA Damage/Telomere Stress Induced Senescence HDACs deacetylate histones HATs acetylate histones HATs acetylate histones SIRT1 negatively regulates rRNA expression ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression NoRC negatively regulates rRNA expression NoRC negatively regulates rRNA expression B-WICH complex positively regulates rRNA expression DNA methylation Transcriptional regulation by small RNAs Activation of anterior HOX genes in hindbrain development during early embryogenesis Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 Ub-specific processing proteases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Nonhomologous End-Joining (NHEJ) Processing of DNA double-strand break ends Deposition of new CENPA-containing nucleosomes at the centromere Assembly of the ORC complex at the origin of replication G2/M DNA damage checkpoint RNA Polymerase I Promoter Opening RNA Polymerase I Promoter Escape E3 ubiquitin ligases ubiquitinate target proteins RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Meiotic recombination HCMV Early Events HCMV Late Events Transcriptional regulation of granulopoiesis Inhibition of DNA recombination at telomere Defective pyroptosis Negative Regulation of CDH1 Gene Transcription Amyloid fiber formation Chromatin modifications during the maternal to zygotic transition (MZT) Replacement of protamines by nucleosomes in the male pronucleus MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Regulation of endogenous retroelements by KRAB-ZFP proteins Regulation of endogenous retroelements by KRAB-ZFP proteins Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) Regulation of PD-L1(CD274) transcription	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
Diseases		None	Kabuki syndrome
GWAS		No GWAS studies recorded	Chronotype ( 30696823 ) General cognitive ability ( 29844566 ) HDL cholesterol levels in HIV infection ( 33109212 ) Heel bone mineral density ( 30598549 ) Intelligence (MTAG) ( 29326435 )
Novel Interactors		None recorded	2 novel interactors: SHMT2 TUBA1C
Interacting Genes		49 interacting genes: AKT1 ANAPC11 APP BAP1 BARD1 BMI1 BRCA1 CDC20 CDK1 CDK2 CHD4 CREBBP DNMT1 DYRK1A EID1 EP300 ERCC6 FANCD2 HUWE1 KAT2A KAT2B KMT2A KMT2C KMT2D MYB PALB2 PIAS1 PSMD4 PTPN6 RHBDD2 RNF168 RNF2 RNF20 RNF40 RNF8 RPS6KA5 SMYD5 TSPYL5 UBE2A UBR7 UHRF1 USP16 USP2 USP21 USP22 USP36 USP43 USP51 USP7	16 interacting genes: AKT1 ASH2L CREBBP CTNNB1 ESR1 H2AC4 H2BC3 H3C1 H3C14 H4C1 MEN1 POLR2A SMAD1 SMAD9 UBC USP7
Entrez ID		3018	8085
HPRD ID		07536	03664
Ensembl ID		ENSG00000276410	ENSG00000167548
Uniprot IDs		P33778	O14686 Q59FG6 Q6PIA1
PDB IDs		3X1S 3X1U 9C62 9FGQ	3UVK 4ERQ 4Z4P 6O7G 8U2Y 9ATN
GO Terms Enriched among Interactors		Chromatin Remodeling Chromatin Organization Post-translational Protein Modification Protein Modification Process Nucleoplasm Protein Metabolic Process Macromolecule Metabolic Process Epigenetic Regulation Of Gene Expression Protein Deubiquitination DNA Repair Chromatin Binding Protein Modification By Small Protein Removal DNA Damage Response Positive Regulation Of Metabolic Process Positive Regulation Of Macromolecule Metabolic Process Transferase Activity Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Regulation Of RNA Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Primary Metabolic Process Proteolysis Nucleus DNA Metabolic Process Cellular Response To Stress Regulation Of Macromolecule Metabolic Process Regulation Of Metabolic Process Regulation Of Cell Cycle Regulation Of Gene Expression Negative Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Transcription By RNA Polymerase II Negative Regulation Of RNA Metabolic Process Regulation Of Macromolecule Biosynthetic Process Response To Radiation Negative Regulation Of Metabolic Process Negative Regulation Of Macromolecule Metabolic Process Positive Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of Macromolecule Biosynthetic Process Protein Modification By Small Protein Conjugation Cysteine-type Deubiquitinase Activity Negative Regulation Of Biosynthetic Process Protein Ubiquitination Transcription Coactivator Activity Positive Regulation Of DNA-templated Transcription Positive Regulation Of RNA Biosynthetic Process Double-strand Break Repair Regulation Of DNA Metabolic Process Positive Regulation Of Macromolecule Biosynthetic Process Regulation Of Mitotic Cell Cycle Negative Regulation Of DNA-templated Transcription	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