KMT2E Gene

HGNC Family	Zinc fingers, Chromatin-modifying enzymes
Name	lysine (K)-specific methyltransferase 2E
Description	This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KMT2E (also known as MLL5) is a member of the trithorax group of chromatin regulators that helps orchestrate transcriptional programs by modulating histone H3K4 methylation and engaging other epigenetic factors. Although its intrinsic methyltransferase activity appears to be weak relative to other MLL family enzymes, KMT2E plays important roles in recruiting or stabilizing chromatin regulators at key promoters to control cell‐cycle progression, differentiation, and cellular homeostasis. In hematopoietic systems, studies in mouse models have shown that loss of MLL5 leads to defects in stem/progenitor cell renewal and differentiation, along with abnormalities in cell cycle regulation and stress responses."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": " In addition, recent human genetic studies have delineated a neurodevelopmental disorder associated with de novo KMT2E variants; individuals with protein‐truncating mutations typically present with mild intellectual disability, autism, macrocephaly, hypotonia, and gastrointestinal issues, whereas those with missense changes often suffer from more severe developmental delays, treatment‐resistant epilepsy, and microcephaly."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Together, these findings underscore the multifaceted functions of KMT2E in mediating chromatin architecture and gene expression programs that are critical for normal cell cycle control, hematopoietic integrity, and neurodevelopment.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Michael Heuser, Damian B Yap, Malina Leung, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of MLL5 results in pleiotropic hematopoietic defects, reduced neutrophil immune function, and extreme sensitivity to DNA demethylation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2008-06-162263"}], "href": "https://doi.org/10.1182/blood-2008-06-162263"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18854576"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18854576"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Lih-Wen Deng, Isaac Chiu, Jack L Strominger "}, {"type": "b", "children": [{"type": "t", "text": "MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.2036345100"}], "href": "https://doi.org/10.1073/pnas.2036345100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14718661"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14718661"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Peipei Zhou, Zhilong Wang, Xiujie Yuan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mixed lineage leukemia 5 (MLL5) protein regulates cell cycle progression and E2F1-responsive gene expression via association with host cell factor-1 (HCF-1)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M112.439729"}], "href": "https://doi.org/10.1074/jbc.M112.439729"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23629655"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23629655"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yan Zhang, Jasmine Wong, Mark Klinger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MLL5 contributes to hematopoietic stem cell fitness and homeostasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2008-05-159905"}], "href": "https://doi.org/10.1182/blood-2008-05-159905"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18818388"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18818388"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Xiaodan Ding, Wei Jiang, Peipei Zhou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mixed Lineage Leukemia 5 (MLL5) Protein Stability Is Cooperatively Regulated by O-GlcNac Transferase (OGT) and Ubiquitin Specific Protease 7 (USP7)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0145023"}], "href": "https://doi.org/10.1371/journal.pone.0145023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26678539"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26678539"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Anne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2019.03.021"}], "href": "https://doi.org/10.1016/j.ajhg.2019.03.021"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31079897"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31079897"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Masaru Katoh "}, {"type": "b", "children": [{"type": "t", "text": "Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Expert Rev Proteomics (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1586/14789450.2015.1033409"}], "href": "https://doi.org/10.1586/14789450.2015.1033409"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25835095"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25835095"}]}]}]}
Synonyms	HDCMC04P, MLL5, NKP44L
Proteins	KMT2E_HUMAN
NCBI Gene ID	55904
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

KMT2E has 12,916 functional associations with biological entities spanning 7 categories (molecular profile, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 120 datasets.

Click the + buttons to view associations for KMT2E from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

KMT2E Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of KMT2E gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of KMT2E gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of KMT2E gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of KMT2E gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of KMT2E gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of KMT2E gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of KMT2E gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of KMT2E gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of KMT2E gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of KMT2E gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with KMT2E protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with KMT2E gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of KMT2E gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of KMT2E gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of KMT2E gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with KMT2E gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing KMT2E protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing KMT2E protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing KMT2E protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing KMT2E protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with KMT2E protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with KMT2E protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of KMT2E gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with KMT2E gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with KMT2E gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with KMT2E gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with KMT2E gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of KMT2E protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by KMT2E gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with KMT2E gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with KMT2E gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with KMT2E gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with KMT2E gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with KMT2E gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at KMT2E gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of KMT2E gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of KMT2E gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing KMT2E from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with KMT2E gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with KMT2E gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.