Affinage

KMT2D

Histone-lysine N-methyltransferase 2D · UniProt O14686

Length
5537 aa
Mass
593.4 kDa
Annotated
2026-06-10
100 papers in source corpus 45 papers cited in narrative 45 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

KMT2D is the major mammalian H3K4 mono-/di-methyltransferase that establishes active enhancer chromatin states and coordinates cell-type-specific transcription programs across development, differentiation, immunity, and metabolism (PMID:28669924, PMID:24240169). Its C-terminal SET domain catalyzes H3K4 methylation and is itself required for KMT2D protein stability; the protein assembles into a COMPASS-like complex with the WRAD module (WDR5, RbBP5, ASH2L, DPY30), NCOA6, PTIP, PA1, and the H3K27 demethylase UTX, for which KMT2D acts as a stabilizing scaffold (PMID:28669924). KMT2D co-localizes with lineage-determining transcription factors (p63, FOXA1/PBX1/ER, MEF2A, EBF2) at enhancers and is required for recruitment of the CBP/p300 acetyltransferases that deposit H3K27ac, with CREBBP reciprocally acetylating KMT2D to sustain H3K4me1 and enhancer output (PMID:28669924, PMID:28336670, PMID:29440247, PMID:36893259). Phase separation driven by KMT2D low-complexity domains stabilizes WDR5 and promotes catalytic complex assembly, and the H3K4me1 it deposits is read by partners including YBX1 and EBF2 to drive target gene activation (PMID:34758724, PMID:38967349, PMID:38015024). KMT2D activity is tuned post-translationally by AKT-mediated phosphorylation (attenuating activity), SMYD2 methylation at K1330 adjacent to the AKT site (modulating chromatin binding), and FBXW7-directed proteasomal degradation that is blocked by ROS/p38-MAPK phosphorylation (PMID:28336670, PMID:38700982, PMID:32350066, PMID:32599142). Beyond transcription, KMT2C/D-dependent H3K4me1 regulates DNA replication timing and origin firing during cell fate transitions (PMID:39908143). Germline missense and loss-of-function variants that impair KMT2D enzymatic activity and WRAD complex assembly cause Kabuki syndrome, and TASP1 cleavage of KMT2D is required for its activation, with TASP1 loss producing an overlapping developmental disorder (PMID:30107592, PMID:31209944, PMID:31949313). Loss of KMT2D causes broad enhancer collapse, impaired differentiation, and glycolytic/metabolic reprogramming across tissues, underlying its tumor-suppressor function in B-cell, epithelial, and other cancers (PMID:32243837, PMID:33086062, PMID:32668765, PMID:39117659).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2013 High

    Established that KMT2D is required to maintain global H3K4 monomethylation and that its binding sites map predominantly to enhancers, defining its core genomic function.

    Evidence SET-domain mutagenesis and genome-wide ChIP in isogenic cancer cell lines

    PMID:24240169

    Open questions at the time
    • Did not resolve the full complex composition
    • Did not address mono- versus di-methylation preference at specific loci
  2. 2017 High

    Defined KMT2D as a catalytic scaffold whose SET domain confers H3K4 methyltransferase activity and protein stability, and which assembles WRAD/UTX/NCOA6/PTIP/PA1 to enable lineage-TF co-localization and CBP/p300 recruitment at enhancers.

    Evidence Biochemical complex characterization, SET-domain mutagenesis, ChIP-seq, and protein-stability assays

    PMID:28669924

    Open questions at the time
    • Mechanism of TF-directed targeting to specific enhancers not resolved
    • Stoichiometry of the complex not defined
  3. 2017 High

    Revealed that KMT2D is post-translationally restrained by AKT phosphorylation downstream of PI3Kalpha, linking growth signaling to enhancer methyltransferase output and ER-dependent transcription.

    Evidence Reciprocal Co-IP, in vitro kinase assay, ChIP-seq, and pharmacological PI3Kalpha inhibition

    PMID:28336670

    Open questions at the time
    • Phosphosite-to-activity mechanism on catalysis not fully defined
    • Generality beyond ER target loci not established
  4. 2015 High

    Showed that lymphoma-associated KMT2D mutations are enzymatically deficient and that early Kmt2d loss expands germinal center B cells, framing KMT2D as a context-dependent tumor suppressor.

    Evidence Enzymatic activity assays on mutant alleles plus conditional mouse knockout

    PMID:26366712

    Open questions at the time
    • Direct target enhancers driving GC expansion not fully cataloged
    • Stage-dependence mechanism unresolved
  5. 2016 High

    Connected KMT2D to signaling-pathway corepressor switching and to tissue-specific enhancer methylation, showing it competes with NCoR on SHARP (Notch) and is the predominant H3K4 di-methyltransferase at cardiac enhancers.

    Evidence Phospho-binding Co-IP and Drosophila genetics; cardiac conditional KO with ChIP-seq

    PMID:26912830 PMID:26932671

    Open questions at the time
    • Whether SPOC competition operates genome-wide in mammals unresolved
    • Direct cardiac target genes incompletely mapped
  6. 2018 High

    Defined KMT2D as a determinant of epithelial differentiation timing and confirmed Kabuki-syndrome variants act by impairing both catalysis and WRAD assembly.

    Evidence Keratinocyte knockdown with ChIP-seq/RNA-seq and p63 Co-IP; in vitro methyltransferase and complex-binding assays on 14 patient variants

    PMID:29440247 PMID:30107592

    Open questions at the time
    • How loss of H3K4me1 triggers premature differentiation mechanistically unresolved
    • Genotype-phenotype correlation for variant classes incomplete
  7. 2019 Medium

    Identified upstream activation and oxidative-stress functions: TASP1 cleavage activates KMT2D, and KMT2D enables FOXO3-dependent antioxidative transcription.

    Evidence Human genetics of TASP1 active-site variants; FOXO3 ChIP/DNA-binding and ROS assays after KMT2D knockdown

    PMID:31209944 PMID:31232159

    Open questions at the time
    • No direct in vitro TASP1 cleavage assay reported
    • FOXO3 dependence shown in a single cancer context
  8. 2020 High

    Established that KMT2D loss causes genome-wide enhancer/super-enhancer collapse driving glycolytic and metabolic reprogramming, and identified FBXW7 as the E3 ligase controlling KMT2D turnover.

    Evidence Conditional/GEMM KO models with ChIP-seq, RNA-seq, Seahorse and metabolic flux assays; Co-IP and proteasome-inhibition degradation assays

    PMID:32243837 PMID:32350066 PMID:32668765 PMID:33086062

    Open questions at the time
    • FBXW7 degron and recognition motif on KMT2D not mapped
    • Causal chain from enhancer loss to specific metabolic genes varies by tissue
  9. 2020 High

    Defined a dominant-negative variant class in Kabuki syndrome and showed KMT2D loss elevates immunogenicity, sensitizing tumors to checkpoint blockade.

    Evidence Circular dichroism on patient variants; in vivo CRISPR-GEMM screen with WGS, RNA-seq, and immune profiling

    PMID:31949313 PMID:32887696

    Open questions at the time
    • Structural model of full-length KMT2D unavailable
    • Mechanism linking enhancer loss to transposable-element activation incomplete
  10. 2021 Medium

    Showed that KMT2D low-complexity domains drive liquid-liquid phase separation that stabilizes WDR5 and promotes catalytic complex assembly and enhancer H3K4me1.

    Evidence LCD-deletion cell lines, 1,6-hexanediol treatment, Co-IP and H3K4me1 ChIP, xenografts

    PMID:34758724

    Open questions at the time
    • In vitro reconstitution of phase separation not shown
    • 1,6-hexanediol is a non-specific LLPS perturbant
  11. 2022 Medium

    Identified cofactors and TF partners that enhance KMT2D-p300 cooperativity at enhancers, including DBC1 (enabling chromatin recruitment) and MEF2A (driving CTNNB1/WNT output).

    Evidence Reciprocal Co-IP and ChIP-seq for H3K4me1/2/3 and H3K27ac; Co-IP, luciferase reporter, and organoid models

    PMID:35477537 PMID:35801925

    Open questions at the time
    • DBC1 recruitment mechanism to specific enhancers unresolved
    • MEF2A cooperation shown in single tumor context
  12. 2023 High

    Resolved that CREBBP directly acetylates KMT2D to sustain H3K4me1, establishing the biochemical basis for co-mutation in lymphoma and mutually dependent enhancer binding.

    Evidence In vitro acetylation, reciprocal Co-IP, ChIP-seq, and combined haploinsufficiency mouse models

    PMID:36893259

    Open questions at the time
    • Acetylation site(s) on KMT2D and their direct effect on catalysis not pinpointed
    • Selectivity for particular enhancers not fully explained
  13. 2023 Medium

    Demonstrated diverse developmental and disease-context roles via direct enhancer/promoter targets, including a WNT3A niche enhancer in brain organoids, VEGF-A in cardiomyocytes, DDIT4/mTOR in AML, and Notch-FBXW7-MYC circuitry in DLBCL.

    Evidence KO organoids with single-cell multiomics and enhancer-deletion phenocopy; cardiomyocyte KO with CUT&Tag; AML KO with ChIP; B-lymphoma knockdown with pathway analysis

    PMID:36947365 PMID:37142882 PMID:39113693 PMID:39327125

    Open questions at the time
    • Direct versus indirect target distinctions vary across studies
    • Tissue-specificity of these axes not unified mechanistically
  14. 2024 High

    Defined H3K4me1 'reader' partners (YBX1, EBF2) and a second activating PTM (SMYD2 methylation at K1330), linking the histone mark to downstream transcriptional effectors and tuning chromatin binding near the AKT phosphosite.

    Evidence H3K4me1-peptide Co-IP with reader-disrupting point mutants and ChIP-seq; MS-mapped K1330 methylation with mutagenesis, ChIP-seq, organoids, and xenografts

    PMID:38015024 PMID:38700982 PMID:38967349

    Open questions at the time
    • Hierarchy among multiple readers at a given enhancer unresolved
    • Crosstalk between K1330 methylation and S1331 phosphorylation not structurally defined
  15. 2024 High

    Showed that KMT2D loss reprograms signaling and immune microenvironments in cancer—activating RTK-RAS via phosphatase repression, conferring FA/BRCA synthetic lethality under glycolytic stress, and impairing immune-synapse super-enhancers with CREBBP.

    Evidence Organoid transformation with phosphoproteomics/ChIP-seq/PDX; KO models with ChIP-seq and PARP/crosslinker assays; combined Crebbp/Kmt2d mice with multi-omics

    PMID:36525973 PMID:38570506 PMID:39117659

    Open questions at the time
    • Direct enhancer targets bridging KMT2D loss to each downstream phenotype incompletely mapped
    • Therapeutic generalizability across tumor types untested
  16. 2025 High

    Extended KMT2D function beyond transcription by showing KMT2C/D-dependent H3K4me1 controls DNA replication timing and origin firing during differentiation, and revealed epistasis with KMT2A-menin redistribution governing lineage enhancers.

    Evidence KO/enzymatic-mutant ESCs with RT mapping and origin assays; urothelium-specific GEMMs with ChIP-seq and nascent RNA-seq

    PMID:39806204 PMID:39908143

    Open questions at the time
    • Mechanism coupling H3K4me1 to origin licensing unresolved
    • How KMT2D restrains KMT2A-menin spreading not mechanistically defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How KMT2D is targeted to specific lineage enhancers, how its multiple PTMs are integrated, and the structural basis of full-length complex assembly and phase separation remain open.
  • No high-resolution structure of full-length KMT2D or its complex
  • Rules governing TF-directed enhancer selection unknown
  • Integration of AKT/SMYD2/CREBBP/FBXW7 inputs into a unified regulatory logic undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 4 GO:0140110 transcription regulator activity 3 GO:0016740 transferase activity 2 GO:0042393 histone binding 2 GO:0060090 molecular adaptor activity 2
Localization
GO:0000228 nuclear chromosome 3 GO:0005634 nucleus 2
Pathway
R-HSA-1266738 Developmental Biology 4 R-HSA-1643685 Disease 3 R-HSA-168256 Immune System 3 R-HSA-4839726 Chromatin organization 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-69306 DNA Replication 1
Partners
AKT1CREBBPDBC1EP300SMYD2UTXWDR5YBX1
Complex memberships
KMT2D-COMPASS-like complex (WRAD: WDR5, RbBP5, ASH2L, DPY30; UTX; NCOA6; PTIP; PA1)

Evidence

Reading pass · 45 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2017 KMT2D is a major mammalian H3K4 mono-methyltransferase; its C-terminal SET domain is responsible for H3K4 methyltransferase activity and is necessary for maintaining KMT2D protein stability in cells. KMT2D associates with WRAD (WDR5, RbBP5, ASH2L, DPY30), NCOA6, PTIP, PA1, and H3K27 demethylase UTX in one protein complex, acting as a scaffold that maintains UTX stability. KMT2D co-localizes with lineage-determining transcription factors on transcriptional enhancers and is required for binding of histone H3K27 acetyltransferases CBP and p300 on enhancers. Biochemical complex characterization, SET domain mutagenesis, ChIP-seq, protein stability assays Gene High 28669924
2013 KMT2D is essential for maintaining global H3K4 monomethylation levels; its enzymatic SET domain is directly responsible for this function. KMT2D binding sites are predominantly located at potential enhancer elements in human cells. Homologous recombination and nuclease-mediated gene editing in isogenic cancer cell lines; histone H3 modification analysis; ChIP Oncotarget High 24240169
2015 FL- and DLBCL-associated KMT2D mutations impair KMT2D enzymatic activity, leading to diminished global H3K4 methylation in germinal center B cells. Conditional deletion of Kmt2d early during B cell development (but not after GC initiation) increases GC B cell numbers and enhances proliferation in mice. Enzymatic activity assays on mutant KMT2D alleles; conditional mouse knockout; H3K4 methylation analysis by ChIP/western Nature medicine High 26366712
2017 AKT (downstream of PI3Kα) binds and phosphorylates KMT2D, attenuating its methyltransferase activity and ER-dependent transcription. PI3Kα inhibition enhances KMT2D activity and mediates an open chromatin state at ER target loci. KMT2D is required for FOXA1, PBX1, and ER recruitment and activation at these loci. Co-immunoprecipitation, in vitro phosphorylation assay, ChIP-seq, pharmacological PI3Kα inhibition, KMT2D knockdown Science (New York, N.Y.) High 28336670
2016 The RBP-J interacting factor SHARP interacts with both the NCoR corepressor complex and the KMT2D coactivator complex; KMT2D and NCoR compete for the C-terminal SPOC domain of SHARP. The SPOC domain exclusively binds phosphorylated NCoR, and the balance is shifted by mutating NCoR phosphorylation sites or inhibiting the NCoR kinase CK2β. Drosophila homologs of SHARP and KMT2D also physically interact and control Notch-mediated functions in vivo. Co-immunoprecipitation, phospho-specific binding assays, kinase inhibition, Drosophila genetic epistasis Nucleic acids research High 26912830
2016 Myocardial deletion of Kmt2d in mice leads to decreased H3K4me1 and H3K4me2 at enhancers and promoters of cardiac genes, primarily via H3K4 di-methylation, affecting ion transport, hypoxia-reoxygenation, and cell cycle genes. Conditional cardiac-specific mouse knockout, ChIP-seq for H3K4me1/me2, gene expression analysis, KMT2D ChIP Development (Cambridge, England) High 26932671
2018 KMT2D depletion from undifferentiated keratinocytes causes loss of enhancer histone modifications H3K4me1 and H3K27ac, reduces expression of p63 target genes, reduces proliferation, and causes premature activation of terminal differentiation genes. KMT2D interacts with p63 genome-wide and is enriched at p63 target enhancers. KMT2D knockdown in keratinocytes, ChIP-seq for H3K4me1 and H3K27ac, RNA-seq, Co-IP with p63 Genes & development High 29440247
2020 Kmt2d loss widely impairs epigenomic signals for super-enhancers/enhancers, including the super-enhancer for the circadian rhythm repressor PER2. Loss of Kmt2d decreases PER2 expression, which in turn regulates multiple glycolytic genes, conferring dependence on glycolysis in lung cancer. Lung-specific conditional Kmt2d KO mice, ChIP-seq for H3K4me1/H3K27ac, RNA-seq, metabolic assays Cancer cell High 32243837
2020 KMT2D loss causes genome-wide reduction of H3K4me1-marked active enhancer chromatin states; enhancer loss and repression of IGFBP5 activates IGF1R-AKT to increase glycolysis in KMT2D-deficient melanoma cells. In vivo RNAi screen, conditional melanocyte-specific GEMM, ChIP-seq for H3K4me1, metabolic profiling, IGF signaling assays Cell reports High 33086062
2020 FBXW7 targets KMT2D for proteasomal degradation via the ubiquitin pathway, regulating gene expression signatures related to oxidative phosphorylation in B-cell malignancies. Co-immunoprecipitation, proteasome inhibition, KMT2D protein level analysis, loss-of-function studies in DLBCL cells Cancer research Medium 32350066
2023 CREBBP directly acetylates KMT2D in GC-derived B cells; FL/DLBCL-associated CREBBP mutations abrogate KMT2D acetylation. Decreased KMT2D acetylation leads to reduced H3K4me1 levels. CREBBP and KMT2D form a biochemical complex on select enhancers/superenhancers critical for immune signaling in the GC light zone. Co-immunoprecipitation, in vitro acetylation assay, ChIP-seq, combined mouse haploinsufficiency models Proceedings of the National Academy of Sciences of the United States of America High 36893259
2018 KMT2D missense variants in Kabuki syndrome impair H3K4 methyltransferase activity and disrupt protein complex formation with WRAD complex members. Functional dissection of 14 missense variants showed 9/14 had reduced enzymatic activity. In vitro H3K4 methyltransferase assay on mutant alleles, co-immunoprecipitation with WRAD complex members Human molecular genetics High 30107592
2020 Kmt2d loss in neural crest cells (NCCs) causes hypoplasia of frontonasal bones, cleft palate, mandible hypoplasia, and defective endochondral ossification. KMT2D NCC loss-of-function leads to defective secondary palatal shelf elevation with reduced extracellular matrix gene expression, and defective osteochondral progenitor differentiation. Neural-crest-specific Kmt2d conditional knockout mice, histological analysis, marker analysis Development (Cambridge, England) High 32541010
2020 Kmt2d loss-of-function in Xenopus inhibits neural crest (NC) formation and migration, recapitulating craniofacial malformations of Kabuki syndrome. Kmt2d is required for cell dispersion but not protrusion formation during NC migration. Kmt2d knockdown correlates with decreased H3K4 monomethylation and H3K27 acetylation, and reduces Sema3F expression; Sema3F overexpression partially rescues the migration defect. Xenopus morpholino knockdown, transplantation experiments, in vitro NC migration assay, H3K4me1/H3K27ac western blot, candidate gene rescue Human molecular genetics High 31813957
2019 KMT2D knockdown in Xenopus leads to hypoplastic hearts lacking the three-chambered structure, with severely affected first and second heart field development and cardiac differentiation. Kmt2d is ubiquitously expressed at early cardiogenesis stages with enrichment in cardiac precursor cells. Xenopus morpholino-mediated knockdown, cardiac marker analysis, heart field staging Developmental dynamics Medium 30980591
2021 KMT2D low-complexity domains (LCDs) drive liquid-liquid phase separation (LLPS), which stabilizes WDR5 protein and promotes protein-protein interactions within the KMT2D catalytic complex (WDR5, RBBP5, ASH2L). Loss of LCDs or LLPS inhibition with 1,6-hexanediol reduces H3K4me1 at enhancers and downregulates target gene expression. LCD-deletion cell lines, LLPS inhibitor (1,6-hexanediol), Co-IP, H3K4me1 ChIP, xenograft models Cellular & molecular biology letters Medium 34758724
2022 DBC1 interacts directly with KMT2D and p300, enhances KMT2D-mediated H3K4 methylation (H3K4me1/2/3), and is required for genome-wide chromatin binding and enhancer recruitment of KMT2D and p300. DBC1 facilitates super-enhancer formation and function through promoting KMT2D-p300 cooperative cross-talk. Co-immunoprecipitation, ChIP-seq for H3K4me1/2/3 and H3K27ac, DBC1 knockdown/knockout Nucleic acids research High 35801925
2024 SMYD2 methylates KMT2D at K1330, adjacent to the AKT phosphorylation site S1331. SMYD2 loss attenuates PI3K inhibitor (alpelisib)-induced KMT2D chromatin binding and ER-dependent transcriptional changes. SMYD2 inhibition sensitizes breast cancer cells to PI3K/AKT inhibition, partly through KMT2D K1330 methylation. Mass spectrometry identification of methylation site, mutagenesis at K1330, ChIP-seq, SMYD2 knockdown/pharmacological inhibition, patient-derived organoids, in vivo xenografts Cell reports High 38700982
2024 Loss of Kmt2d or Kmt2c in TNBC drives brain metastasis through KDM6A-dependent upregulation of MMP3. KMT2C/D loss alters H3K4me1, H3K27ac, and H3K27me3 marks genome-wide and leads to enhanced binding of H3K27me3 demethylase KDM6A; KDM6A downregulation or inhibition prevents MMP3 upregulation and brain metastasis. Conditional KO in murine TNBC models, ChIP-seq for H3K4me1/H3K27ac/H3K27me3, RNA-seq, KDM6A pharmacological inhibition, metastasis assays Nature cell biology High 38926506
2023 KMT2D deficiency in AML leads to activation of the mTOR pathway; KMT2D directly regulates expression of DDIT4 (a negative regulator of mTOR). Kmt2d loss results in enhanced ribosome biogenesis, enlarged nucleolus, and increased rRNA and protein synthesis rates. shRNA/CRISPR KD/KO in mouse and human AML, mTOR pathway analysis, ribosome biogenesis assays, ChIP for KMT2D at Ddit4 locus Advanced science Medium 37142882
2023 KMT2D links TGF-β to the activin A pathway: TGF-β upregulates miR-147b, which post-transcriptionally silences KMT2D. KMT2D loss induces expression and secretion of activin A, which activates a noncanonical p38 MAPK-mediated pathway to modulate cancer cell plasticity and promote a mesenchymal phenotype in pancreatic cancer. miRNA overexpression/inhibition, KMT2D knockdown, activin A ELISA and rescue experiments, p38 MAPK inhibition, invasion/metastasis assays in mice International journal of cancer Medium 37140208
2023 KMT2D directly regulates IL-6 enhancer regions (confirmed by ChIP-PCR showing KMT2D and H3K4me1 occupancy at the IL-6 enhancer), and KMT2D knockdown suppresses IL-6 expression in prostate cancer cells, attenuating paracrine pro-tumorigenic signaling. ChIP-PCR for KMT2D and H3K4me1 at IL-6 enhancer, KMT2D knockdown, cytokine array, conditioned medium experiments Biochemical and biophysical research communications Medium 36924677
2019 TASP1 (taspase 1) cleaves and activates both KMT2A and KMT2D; loss-of-function variants in TASP1 cause a developmental syndrome with features overlapping Kabuki syndrome, functionally linking TASP1 cleavage to KMT2D activation. Human genetics (homozygous TASP1 variants), active-site missense affecting catalytic residue, phenotypic comparison with KMT2D/KMT2A disorders Human mutation Medium 31209944
2020 KMT2D deficiency leads to significant reduction in mitochondrial oxygen consumption rate and glycolytic flux in Kmt2d KO MEFs and Kabuki patient fibroblasts. KMT2D loss results in inhibition of respiratory chain complexes CI (NADH dehydrogenase) and CIV (cytochrome c oxidase), increased ROS production, and impaired glucose oxidation with increased reliance on long-chain fatty acid oxidation. Seahorse metabolic flux assay, mass spectrometry metabolomics, respiratory chain complex activity assays, Kmt2d KO MEFs and patient fibroblasts Cells High 32668765
2019 KMT2D loss reduces enhancer activity markers H3K4me1 and H3K27ac, blocks DNA binding of FOXO3 (a mediator of oxidative stress response) at antioxidative gene regulatory regions, and suppresses antioxidative gene transcription, leading to increased ROS and sensitization to DNA damage in prostate cancer. KMT2D knockdown, ChIP for H3K4me1/H3K27ac, FOXO3 ChIP/DNA-binding assay, ROS measurement, DNA damage assays Epigenetics Medium 31232159
2024 KMT2D deficiency promotes HNSCC growth through increasing glycolysis. Under glycolytic inhibition, KMT2D occupies promoter/enhancer regions of Fanconi Anemia (FA)/BRCA pathway genes and activates their expression. KMT2D loss reprograms epigenomic landscapes of FA genes from active to inactive states under glycolytic inhibition, conferring synthetic lethality with DNA crosslinking agents or PARP inhibitors. KMT2D KO mouse models, ChIP-seq for enhancer/promoter marks at FA genes, glucose uptake assays, PDX studies Nature communications High 39117659
2022 KMT2D loss in LUSC increases activation of RTKs EGFR and ERBB2, partly through chromatin landscape reprogramming that represses expression of protein tyrosine phosphatases. This provokes elevated RTK-RAS signaling. Combining SHP2 inhibitor with pan-ERBB inhibitor inhibits tumor growth in Kmt2d-deficient LUSC models. Kmt2d deletion in lung basal cell organoids (CRISPR), phosphoproteomic analysis, ChIP-seq, PDX testing Cancer cell High 36525973
2017 KMT2D epigenetically activates PI3K/Akt pathway and EMT by targeting the enhancers of LIFR (activating PI3K/Akt) and KLF4 (regulating EMT) in prostate cancer; integrative RNAseq and ChIPseq identified these two genes as directly regulated by KMT2D. RNAseq, ChIP-seq, KMT2D knockdown, in vivo xenograft Oncogene Medium 29269867
2020 H2O2-induced phosphorylation of KMT2D (mediated by p38/MAPK) blocks ubiquitin-mediated degradation of KMT2D. KMT2D directly regulates expression of MMP3, MMP9, and MMP13 via H3K4me1 and H3K4me2 modifications; KMT2D activity promotes NP degeneration through transcriptional upregulation of matrix-degrading enzymes. Co-IP for KMT2D-ubiquitin interaction, H2O2 treatment, p38/MAPK inhibition, siRNA knockdown, H3K4me1/me2 western blotting, ex vivo disc model Biochimica et biophysica acta. Molecular basis of disease Medium 32599142
2023 KMT2D targets a roof-plate-like niche cell and activates the niche cell-specific WNT3A enhancer, providing the microenvironment for neural crest and neuronal development. KMT2D-KO organoids show neural crest deformities and GABAergic overproduction; WNT3A enhancer deletion phenocopies KMT2D depletion; WNT signaling reactivation in KMT2D-KO rescues lineage defects. Brain organoids (KMT2D-KO and patient-derived), single-cell RNA-seq, single-cell multiomic integration (GREE), WNT3A enhancer deletion, WNT pathway rescue Science bulletin High 39327125
2023 KDM6A recruits KMT2D via its TPR domain; the KDM6A-KMT2D-p300 complex localizes to proximal and distal enhancers of ACE2 and regulates receptor expression, thereby promoting coronavirus susceptibility. KMT2D is required for this KDM6A-dependent transcriptional regulation. Co-immunoprecipitation (TPR domain of KDM6A), ChIP-seq at ACE2 enhancers, KMT2D knockdown, pharmacological p300 inhibition, viral infection assays PLoS pathogens Medium 37410700
2024 KMT2D-mediated H3K4me1 recruits YBX1 as a 'reader' of H3K4me1; a point mutation in YBX1 (E121A) disrupts this interaction. KMT2D and YBX1 co-localize at the c-Myc and SENP1 promoter regions and cooperatively activate their expression to promote TNBC proliferation and metastasis. Co-IP of YBX1 with H3K4me1 peptides, E121A mutagenesis, ChIP-seq, RNA-seq, in vitro and in vivo tumor models Clinical and translational medicine High 38967349
2025 KMT2C/D-dependent H3K4me1 is a key regulator of DNA replication timing (RT) and replication origin firing during cell fate transitions. Loss of KMT2C/D or their enzymatic activities impairs RT changes during ESC differentiation, correlating with local H3K4me1 loss and reduced replication origin activity, while transcription remains largely unaffected. KMT2C/D knockout ESCs, enzymatic activity mutants, machine learning-based RT prediction, replication origin assays, ChIP-seq for H3K4me1 Cell reports High 39908143
2025 KMT2D localizes to active enhancers and CpG-poor promoters of the urothelial lineage program. Kmt2c/d KO leads to diminished H3K4me1, H3K27ac, and nascent RNA transcription at these sites, impairing differentiation. Kmt2c/d KO also leads to KMT2A-menin redistribution from KMT2D-localized enhancers to CpG-high and bivalent promoters, derepressing immediate early genes. Kmt2c/d knockout GEMMs (urothelium-specific), ChIP-seq for H3K4me1/H3K27ac, nascent RNA sequencing, KMT2A-menin ChIP-seq Nature genetics High 39806204
2024 KMT2D deficiency in T cells leads to decreased expression of a cluster of leukocyte-specific integrins (at both transcriptional and translational levels), perturbing T-cell activation, maturation, adhesion/localization, and effector function. H3K4me3 ChIP-PCR indicates these integrin genes are under direct KMT2D control. KMT2D loss also leads to accumulation of CD8+ SP thymocytes and shifts in peripheral T-cell populations. Constitutive and conditional Kmt2d KO mice, RNA-seq, flow cytometry, H3K4me3 ChIP-PCR Frontiers in immunology Medium 38765012
2023 Kmt2d directly regulates Vegf-a expression by H3K4me1 enrichment on the Vegf-a promoter; KMT2D deficiency in cardiomyocytes reduces VEGF-A secretion and attenuates paracrine angiogenic signaling. KMT2D loss in both cardiomyocytes and endothelial cells attenuates angiogenesis and exacerbates heart failure after myocardial infarction. Cardiomyocyte-specific Kmt2d KO mice, CUT&Tag for H3K4me1 at Vegf-a promoter, ELISA, cross-talk conditioned medium assay, echocardiography Journal of cardiovascular translational research Medium 36947365
2021 KMT2D deficiency disturbs proliferation and cell cycle activity in dental epithelial cells (LS8) partially via reduction of Wnt/β-catenin signaling; Kmt2d knockdown reduces nuclear translocation of β-catenin, and LiCl (Wnt activator) partially rescues proliferation and G1 arrest. Kmt2d siRNA knockdown in LS8 cells, RNA-seq, KEGG pathway analysis, TOP/FOP reporter assay, β-catenin localization, LiCl rescue Bioscience reports Medium 34724040
2024 Combined haploinsufficiency of Crebbp and Kmt2d induces an immune-evasive lymphoma microenvironment (CD8+ T-cell exhaustion, reduced infiltration) linked to repression of immune synapse genes. CREBBP and KMT2D show mutually dependent binding on chromatin; their combined deficiency preferentially impairs activation of immune synapse-responsive super-enhancers. Combined Crebbp/Kmt2d haploinsufficient mice, ChIP-seq, ATAC-seq, single-cell RNA-seq, co-dependency analysis Nature communications High 38570506
2024 KMT2D mutations in DLBCL inhibit H3K4 methylation, downregulate FBXW7, activate NOTCH signaling and downstream MYC/TGF-β1, resulting in altered tumor-induced regulatory T cell trafficking. KMT2D knockdown in B-lymphoma cells, NOTCH pathway analysis, TGF-β1 measurement, murine subcutaneous tumor models International journal of biological sciences Medium 39113693
2023 Heterozygous loss of Kmt2d in SHH-medulloblastoma mouse models causes decreased expression of differentiation genes and tumor suppressors and increased expression of TGFβ, Notch, Atoh1, Sox2, and Myc pathway genes, shifting the transcriptional/chromatin landscape toward a pro-metastatic state. Genetic SHH-MB mouse models with Kmt2d heterozygous deletion, RNA-seq, ChIP-seq, histological analysis of metastasis iScience Medium 37822508
2020 Kmt2d loss in Kmt2d-mutant cells leads to increased DNA damage and mutation burden, chromatin remodeling, intron retention, and activation of transposable elements, increasing tumor immunogenicity and sensitizing tumors to immune checkpoint blockade. CRISPR-GEMM pooled in vivo screen, whole-genome sequencing, RNA-seq, transposable element analysis, immune infiltration analysis Cancer discovery High 32887696
2022 KMT2D cooperates with MEF2A to promote transcription activity of CTNNB1 (β-catenin/WNT signaling) in OSCC; dual-luciferase reporter and Co-IP assays confirmed the KMT2D-MEF2A interaction and the effect on CTNNB1 transcription, enhancing WNT signaling and stem-like properties. Co-immunoprecipitation, dual-luciferase reporter assay, KMT2D knockdown, patient-derived organoids, in vitro/in vivo models Cell & bioscience Medium 35477537
2020 Missense KMT2D variants spanning exons 38-39 perturb KMT2D secondary structure through increased disordered-to-α-helical transition (shown by circular dichroism spectroscopy), suggesting a dominant negative mechanism distinct from the haploinsufficiency mechanism in classic Kabuki syndrome. Circular dichroism spectroscopy, DNA methylation profiling, phenotypic analysis Genetics in medicine Medium 31949313
2024 KMT2D promotes IDI1 expression by catalyzing H3K4me1 modification near the IDI1 promoter in hepatocytes, linking KMT2D epigenetic activity to cholesterol/lipid metabolism; exercise training downregulates the KMT2D/IDI1 axis to reduce lipid accumulation in NASH. ChIP for H3K4me1 at IDI1 promoter, KMT2D overexpression/knockdown in AML12 cells, RNA sequencing in exercise-trained mice Experimental cell research Medium 39332515
2023 EBF2 is identified as a binding protein of KMT2D-catalyzed H3K4me1. KMT2D-dependent H3K4me1 and EBF2 co-occupy the TSS of the KLLN gene in pancreatic cancer cells; KMT2D and EBF2 cooperatively inhibit PDAC progression through KLLN upregulation. Co-IP/pulldown for EBF2-H3K4me1 binding, ChIP-seq and RNA-seq integration, KMT2D/EBF2 knockdown functional assays, GSK-LSD1 treatment Advanced science Medium 38015024

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2015 Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis. Nature medicine 381 26366712
2017 Histone H3 lysine 4 methyltransferase KMT2D. Gene 256 28669924
2017 PI3K pathway regulates ER-dependent transcription in breast cancer through the epigenetic regulator KMT2D. Science (New York, N.Y.) 218 28336670
2020 KMT2D Deficiency Impairs Super-Enhancers to Confer a Glycolytic Vulnerability in Lung Cancer. Cancer cell 192 32243837
2016 Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Human mutation 159 27302555
2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Human molecular genetics 154 25972376
2019 COMPASS Ascending: Emerging clues regarding the roles of MLL3/KMT2C and MLL2/KMT2D proteins in cancer. Cancer letters 125 31128216
2020 CRISPR-GEMM Pooled Mutagenic Screening Identifies KMT2D as a Major Modulator of Immune Checkpoint Blockade. Cancer discovery 118 32887696
2016 KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation. Development (Cambridge, England) 118 26932671
2013 KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation. Oncotarget 110 24240169
2017 Histone methyltransferase KMT2D sustains prostate carcinogenesis and metastasis via epigenetically activating LIFR and KLF4. Oncogene 99 29269867
2016 Reduced Expression of Histone Methyltransferases KMT2C and KMT2D Correlates with Improved Outcome in Pancreatic Ductal Adenocarcinoma. Cancer research 84 27280393
2018 KMT2D regulates p63 target enhancers to coordinate epithelial homeostasis. Genes & development 82 29440247
2016 Small Cell Lung Cancer Exhibits Frequent Inactivating Mutations in the Histone Methyltransferase KMT2D/MLL2: CALGB 151111 (Alliance). Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 80 28007623
2022 KMT2D deficiency drives lung squamous cell carcinoma and hypersensitivity to RTK-RAS inhibition. Cancer cell 77 36525973
2016 A phospho-dependent mechanism involving NCoR and KMT2D controls a permissive chromatin state at Notch target genes. Nucleic acids research 70 26912830
2018 Dissecting KMT2D missense mutations in Kabuki syndrome patients. Human molecular genetics 59 30107592
2020 A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 56 31949313
2015 Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene. Genes, chromosomes & cancer 54 26032282
2020 Enhancer Reprogramming Confers Dependence on Glycolysis and IGF Signaling in KMT2D Mutant Melanoma. Cell reports 52 33086062
2018 KMT2D/MLL2 inactivation is associated with recurrence in adult-type granulosa cell tumors of the ovary. Nature communications 52 29950560
2021 KDM5 inhibition offers a novel therapeutic strategy for the treatment of KMT2D mutant lymphomas. Blood 48 33786580
2014 Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. Journal of human genetics 47 24739679
2016 Recurrent mutations in NF-κB pathway components, KMT2D, and NOTCH1/2 in ocular adnexal MALT-type marginal zone lymphomas. Oncotarget 46 27566587
2020 The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology. Development (Cambridge, England) 45 32541010
2020 The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration. Human molecular genetics 44 31813957
2014 Immunologic assessment and KMT2D mutation detection in Kabuki syndrome. Clinical genetics 43 25142838
2024 Loss of Kmt2c or Kmt2d drives brain metastasis via KDM6A-dependent upregulation of MMP3. Nature cell biology 38 38926506
2018 Downregulation of KMT2D suppresses proliferation and induces apoptosis of gastric cancer. Biochemical and biophysical research communications 36 30177394
2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Clinical genetics 36 28295206
2020 Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. American journal of medical genetics. Part A 34 32083401
2019 Loss of KMT2D induces prostate cancer ROS-mediated DNA damage by suppressing the enhancer activity and DNA binding of antioxidant transcription factor FOXO3. Epigenetics 34 31232159
2018 Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs. International journal of biological sciences 34 29725259
2019 KMT2D inhibits the growth and metastasis of bladder Cancer cells by maintaining the tumor suppressor genes. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 33 31100540
2019 Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D. Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al] 32 31123786
2018 A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. Journal of human genetics 31 30459467
2016 Growth pattern in Kabuki syndrome with a KMT2D mutation. American journal of medical genetics. Part A 30 27530205
2019 MiRNA-217 accelerates the proliferation and migration of bladder cancer via inhibiting KMT2D. Biochemical and biophysical research communications 29 31547991
2016 Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas. Genes, chromosomes & cancer 28 26841698
2023 KMT2D Deficiency Promotes Myeloid Leukemias which Is Vulnerable to Ribosome Biogenesis Inhibition. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 27 37142882
2020 Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome. American journal of medical genetics. Part A 27 32803813
2020 FBXW7 Triggers Degradation of KMT2D to Favor Growth of Diffuse Large B-cell Lymphoma Cells. Cancer research 26 32350066
2018 Comprehensive pharmacogenomic profiling of human papillomavirus-positive and -negative squamous cell carcinoma identifies sensitivity to aurora kinase inhibition in KMT2D mutants. Cancer letters 26 29807113
2024 Loss of CREBBP and KMT2D cooperate to accelerate lymphomagenesis and shape the lymphoma immune microenvironment. Nature communications 24 38570506
2021 The low-complexity domains of the KMT2D protein regulate histone monomethylation transcription to facilitate pancreatic cancer progression. Cellular & molecular biology letters 24 34758724
2018 MLL2/KMT2D and MLL3/KMT2C expression correlates with disease progression and response to imatinib mesylate in chronic myeloid leukemia. Cancer cell international 24 29483845
2017 Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature. International journal of molecular sciences 24 29283410
2019 Analysis of the role of mutations in the KMT2D histone lysine methyltransferase in bladder cancer. FEBS open bio 23 30984543
2024 KMT2C and KMT2D aberrations in breast cancer. Trends in cancer 22 38453563
2020 Oxidative stress abrogates the degradation of KMT2D to promote degeneration in nucleus pulposus. Biochimica et biophysica acta. Molecular basis of disease 22 32599142
2019 Genetic mutational status of genes regulating epigenetics: Role of the histone methyltransferase KMT2D in triple negative breast tumors. PloS one 20 30990809
2019 KMT2D deficiency enhances the anti-cancer activity of L48H37 in pancreatic ductal adenocarcinoma. World journal of gastrointestinal oncology 19 31435462
2017 Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report. Frontiers in genetics 19 29321794
2023 KMT2D suppresses Sonic hedgehog-driven medulloblastoma progression and metastasis. iScience 18 37822508
2022 Histone methyltransferase KMT2D cooperates with MEF2A to promote the stem-like properties of oral squamous cell carcinoma. Cell & bioscience 18 35477537
2021 KMT2D deficiency disturbs the proliferation and cell cycle activity of dental epithelial cell line (LS8) partially via Wnt signaling. Bioscience reports 18 34724040
2018 Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review. BMC medical genetics 18 29482518
2024 KMT2D-mediated H3K4me1 recruits YBX1 to facilitate triple-negative breast cancer progression through epigenetic activation of c-Myc. Clinical and translational medicine 17 38967349
2022 KMT2D loss drives aggressive tumor phenotypes in cutaneous squamous cell carcinoma. American journal of cancer research 17 35411237
2022 Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders. Epigenomics 17 35506254
2021 Pseudogene ACTBP2 increases blood-brain barrier permeability by promoting KHDRBS2 transcription through recruitment of KMT2D/WDR5 in Aβ1-42 microenvironment. Cell death discovery 17 34127651
2020 Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration. Cells 17 32668765
2019 Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome. Genes, brain, and behavior 17 30891914
2021 KMT2D promotes proliferation of gastric cancer cells: evidence from ctDNA sequencing. Journal of clinical laboratory analysis 16 33793001
2024 Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome. EBioMedicine 15 38768529
2024 KMT2D mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-induced regulatory T cell trafficking via FBXW7-NOTCH-MYC/TGF-β1 axis. International journal of biological sciences 15 39113693
2023 KMT2D acetylation by CREBBP reveals a cooperative functional interaction at enhancers in normal and malignant germinal center B cells. Proceedings of the National Academy of Sciences of the United States of America 15 36893259
2023 EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 15 38015024
2018 A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report. BMC medical genetics 15 29914387
2025 Loss of Kmt2c or Kmt2d primes urothelium for tumorigenesis and redistributes KMT2A-menin to bivalent promoters. Nature genetics 14 39806204
2024 Histone-methyltransferase KMT2D deficiency impairs the Fanconi anemia/BRCA pathway upon glycolytic inhibition in squamous cell carcinoma. Nature communications 14 39117659
2023 Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome. Human molecular genetics 14 37043208
2019 Novel heterozygous variants in KMT2D associated with holoprosencephaly. Clinical genetics 14 31282990
2023 Histone methyltransferase KMT2D promotes prostate cancer progression through paracrine IL-6 signaling. Biochemical and biophysical research communications 13 36924677
2023 KMT2D links TGF-β signaling to noncanonical activin pathway and regulates pancreatic cancer cell plasticity. International journal of cancer 13 37140208
2019 Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis. Developmental dynamics : an official publication of the American Association of Anatomists 13 30980591
2019 Expression pattern of Kmt2d in murine craniofacial tissues. Gene expression patterns : GEP 13 31228576
2022 DBC1 is a key positive regulator of enhancer epigenomic writers KMT2D and p300. Nucleic acids research 12 35801925
2016 A novel KMT2D mutation resulting in Kabuki syndrome: A case report. Molecular medicine reports 12 27573763
2024 Methylation of the chromatin modifier KMT2D by SMYD2 contributes to therapeutic response in hormone-dependent breast cancer. Cell reports 11 38700982
2024 KMT2D regulates activation, localization, and integrin expression by T-cells. Frontiers in immunology 11 38765012
2020 Merkel Cell Polyomavirus in Merkel Cell Carcinoma: Integration Sites and Involvement of the KMT2D Tumor Suppressor Gene. Viruses 11 32878339
2019 Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. Human mutation 11 31209944
2023 Lysine methyltransferase Kmt2d regulates naive CD8+ T cell activation-induced survival. Frontiers in immunology 9 36741385
2021 Histone Methyltransferase KMT2D Regulates H3K4 Methylation and is Involved in the Pathogenesis of Ovarian Cancer. Cell transplantation 9 34705580
2020 Small molecule inhibitors of the prostate cancer target KMT2D. Biochemical and biophysical research communications 9 32988590
2024 DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism. European journal of human genetics : EJHG 8 38528056
2024 KMT2D deficiency leads to cellular developmental disorders and enhancer dysregulation in neural-crest-containing brain organoids. Science bulletin 8 39327125
2023 Effects of KMT2D mutation and its exon 39 mutation on the immune microenvironment and drug sensitivity in colorectal adenocarcinoma. Heliyon 8 36846668
2023 Loss of Histone Methyltransferase KMT2D Attenuates Angiogenesis in the Ischemic Heart by Inhibiting the Transcriptional Activation of VEGF-A. Journal of cardiovascular translational research 8 36947365
2023 Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1. Birth defects research 8 37158694
2022 The methyltransferase enzymes KMT2D, SETD1B, and ASH1L are key mediators of both metabolic and epigenetic changes during cellular senescence. Molecular biology of the cell 8 35196069
2020 Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders. Gene 8 31935506
2025 KMT2C/KMT2D-dependent H3K4me1 mediates changes in DNA replication timing and origin activity during a cell fate transition. Cell reports 7 39908143
2024 Exercise training alleviates cholesterol and lipid accumulation in mice with non-alcoholic steatohepatitis: Reduction of KMT2D-mediated histone methylation of IDI1. Experimental cell research 7 39332515
2023 The KDM6A-KMT2D-p300 axis regulates susceptibility to diverse coronaviruses by mediating viral receptor expression. PLoS pathogens 7 37410700
2022 LncRNA NORAD mediates KMT2D expression by targeting miR-204-5p and affects the growth of gastric cancer. Journal of gastrointestinal oncology 7 36636064
2021 Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D. Frontiers in molecular biosciences 7 34336928
2021 Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. American journal of medical genetics. Part A 7 34369642
2021 KMT2D deficiency confers a therapeutic vulnerability to glycolytic and IGFR inhibitors in melanoma. Molecular & cellular oncology 7 34859145

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