KMT5B Gene

Name lysine methyltransferase 5B
Description This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KMT5B is a histone lysine methyltransferase that plays a central role in establishing repressive chromatin states by catalyzing the addition of methyl groups to lysine 20 of histone H4. In particular, KMT5B acts on monomethylated H4K20 to generate di‐ and trimethylated forms that are critically involved in heterochromatin formation, genomic stability, and regulation of DNA replication and repair. Its activity is essential for proper chromatin compaction at regions such as pericentric heterochromatin and telomeres, where the precise methylation state contributes to telomere length homeostasis and restricts aberrant recombination events. In addition, KMT5B function is linked to cell cycle control, with its methylation marks serving as platforms for the recruitment of other factors—such as components of the origin recognition complex—that ensure accurate replication and maintenance of genomic integrity. Structural studies have further clarified that KMT5B, along with its close homologues, displays substrate selectivity that underlies its unique role in regulating the “histone code” at specific genomic sites. Collectively, these findings underscore the importance of KMT5B-mediated H4K20 methylation in coordinating chromatin organization, cell cycle progression, and the maintenance of genome stability."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Susana Gonzalo, Marta García-Cao, Mario F Fraga, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Role of the RB1 family in stabilizing histone methylation at constitutive heterochromatin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Cell Biol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncb1235"}], "href": "https://doi.org/10.1038/ncb1235"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15750587"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15750587"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Roberta Benetti, Susana Gonzalo, Isabel Jaco, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Suv4-20h deficiency results in telomere elongation and derepression of telomere recombination."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200703081"}], "href": "https://doi.org/10.1083/jcb.200703081"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17846168"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17846168"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Hongbo Yang, James J Pesavento, Taylor W Starnes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Preferential dimethylation of histone H4 lysine 20 by Suv4-20."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M707974200"}], "href": "https://doi.org/10.1074/jbc.M707974200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18296440"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18296440"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Hong Wu, Alena Siarheyeva, Hong Zeng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Crystal structures of the human histone H4K20 methyltransferases SUV420H1 and SUV420H2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.febslet.2013.10.020"}], "href": "https://doi.org/10.1016/j.febslet.2013.10.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24396869"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24396869"}]}]}]}
NCBI Gene ID 51111
API
Download Associations
Predicted Functions View KMT5B's ARCHS4 Predicted Functions.
Co-expressed Genes View KMT5B's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View KMT5B's ARCHS4 Predicted Functions.

Functional Associations

KMT5B has 3,521 functional associations with biological entities spanning 5 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 44 datasets.

Click the + buttons to view associations for KMT5B from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of KMT5B gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Carcinogenome Chemical Perturbation Carcinogenicity Signatures small molecule perturbations changing expression of KMT5B gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of KMT5B 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 KMT5B gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of KMT5B gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing KMT5B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with KMT5B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DeepCoverMOA Drug Mechanisms of Action small molecule perturbations with high or low expression of KMT5B 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 KMT5B gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DGIdb Drug Targets 2026 interacting drugs for KMT5B protein from the DGIdb Drug Targets 2026 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with KMT5B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
GlyGen Glycosylated Proteins ligands (chemical) binding KMT5B protein from the GlyGen Glycosylated Proteins dataset.
GO Biological Process Annotations 2023 biological processes involving KMT5B gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving KMT5B gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2023 cellular components containing KMT5B protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing KMT5B protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by KMT5B gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by KMT5B gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of KMT5B gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with KMT5B gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by KMT5B gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of KMT5B gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of KMT5B gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
KEGG Pathways 2026 pathways involving KMT5B protein from the KEGG Pathways 2026 dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of KMT5B gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures gene perturbations changing expression of KMT5B gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by KMT5B gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MoTrPAC Rat Endurance Exercise Training tissue samples with high or low expression of KMT5B gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of KMT5B gene from the NIBR DRUG-seq U2OS MoA Box dataset.
PFOCR Pathway Figure Associations 2023 pathways involving KMT5B protein from the PFOCR Pathway Figure Associations 2023 dataset.
PFOCR Pathway Figure Associations 2024 pathways involving KMT5B protein from the Wikipathways PFOCR 2024 dataset.
Reactome Pathways 2024 pathways involving KMT5B protein from the Reactome Pathways 2024 dataset.
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of KMT5B gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset.
Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of KMT5B gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset.
Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of KMT5B gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of KMT5B gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of KMT5B gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of KMT5B gene from the RummaGEO Gene Perturbation Signatures dataset.
Sci-Plex Drug Perturbation Signatures drug perturbations changing expression of KMT5B gene from the Sci-Plex Drug Perturbation Signatures dataset.
Tahoe Therapeutics Tahoe 100M Perturbation Atlas drug perturbations changing expression of KMT5B gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of KMT5B protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of KMT5B protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with KMT5B protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2024 pathways involving KMT5B protein from the WikiPathways Pathways 2024 dataset.