Affinage

KMT2B

Histone-lysine N-methyltransferase 2B · UniProt Q9UMN6

Length
2715 aa
Mass
293.5 kDa
Annotated
2026-06-10
98 papers in source corpus 20 papers cited in narrative 20 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

KMT2B (MLL2/MLL4/Wbp7) is a SET-domain histone H3 lysine 4 methyltransferase that deposits H3K4 di- and trimethylation at gene promoters and cis-regulatory elements to establish and maintain transcriptionally active chromatin (PMID:23426673, PMID:34440566). Its catalysis is executed within a complex assembled through the C-terminal SET domain together with the WRAD subunits (WDR5, RbBP5, ASH2L, DPY30), HCF1/2, and Menin (PMID:34440566). At CpG-island promoters KMT2B sustains RNA polymerase II occupancy and protects against de novo DNA methylation, and its re-expression is sufficient to reinstate an active, unmethylated state, defining it as a maintenance factor for the active chromatin landscape (PMID:23358417). Genome-wide, KMT2B occupies both bivalent (H3K27me3-marked) and active or monovalent promoters, and its recruitment to promoters depends on the PRC1 components KDM2B and RING1B, with PRC1 specifically supporting H3K4me3 at bivalent loci (PMID:30504434, PMID:40463144). KMT2B acts non-redundantly with the closely related KMT2A, controlling distinct genomic regions and neuronal-plasticity pathways (PMID:28723559), and is selectively required for hippocampus-dependent memory formation, where its loss depletes H3K4me2/me3 (but not me1) at plasticity genes (PMID:23426673). Beyond the nervous system, KMT2B governs cell-fate transitions including the spermatogonial stem-cell-to-progenitor transition and direct fibroblast-to-neuron transdifferentiation (PMID:30504434, PMID:30355503), and supports GPI-anchor biosynthesis in macrophages by enabling Pigp expression, thereby permitting GPI-anchored CD14 loading and LPS signaling (PMID:22483804). In multiple cancers KMT2B functions through promoter-specific H3K4me3 deposition on target genes such as EGF, FYN, SHPRH, RBBP6, and SNHG12 to drive proliferation, metastasis, angiogenesis, and radioiodine resistance via downstream PI3K-AKT and ubiquitin-degradation cascades (PMID:36594087, PMID:34606908, PMID:40741875, PMID:42011633). KMT2B haploinsufficiency causes early-onset generalized dystonia (DYT-KMT2B), with patient tissues showing genome-wide reduction of H3K4me3 (PMID:38108041, PMID:38810319).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2012 High

    Established that KMT2B controls a defined biological output beyond generic transcription by linking it to a specific essential gene, showing it is required for macrophage GPI-anchor biosynthesis and downstream innate immune signaling.

    Evidence Genomic loss-of-function analysis in Wbp7-/- macrophages with Pigp/GPI-anchor and LPS-signaling readouts

    PMID:22483804

    Open questions at the time
    • Did not establish whether KMT2B acts at the Pigp promoter directly via H3K4 methylation
    • Generalizability beyond macrophages untested at this stage
  2. 2013 High

    Defined KMT2B as a maintenance factor that keeps CpG-island promoters active and DNA-methylation-protected, answering whether its role is to establish versus sustain chromatin state.

    Evidence Conditional KO ESCs with kinetic ChIP, bisulfite sequencing, Pol II binding, and rescue by KMT2B re-expression at the MagohB promoter

    PMID:23358417

    Open questions at the time
    • Single-locus model; genome-wide scope of maintenance role not addressed here
    • Mechanism by which KMT2B blocks DNA methylation not resolved
  3. 2013 High

    Connected KMT2B catalytic specificity to a physiological phenotype, showing it is required for memory and selectively writes H3K4me2/me3 (not me1) at plasticity genes.

    Evidence Forebrain-specific conditional KO mice with behavioral tests, microarray, and H3K4me1/2/3 ChIP

    PMID:23426673

    Open questions at the time
    • Direct promoter occupancy at downregulated plasticity genes not mapped genome-wide
    • Why me1 is unaffected mechanistically unexplained
  4. 2017 High

    Resolved whether KMT2A and KMT2B are functionally redundant, demonstrating they occupy distinct genomic regions and control different neuronal-plasticity programs.

    Evidence Parallel hippocampal-neuron knockdown of Kmt2a vs Kmt2b with ChIP-seq and RNA-seq

    PMID:28723559

    Open questions at the time
    • Determinants of paralog-specific targeting not identified
    • Does not explain locus selection mechanism
  5. 2018 High

    Showed KMT2B operates at both bivalent and a novel monovalent promoter class and drives a developmental stem-cell transition, expanding its target repertoire beyond classical bivalent loci.

    Evidence Conditional KO in spermatogonial stem cells with H3K4me3/H3K27me3 ChIP-seq and stem-cell assays

    PMID:30504434

    Open questions at the time
    • Mechanism distinguishing monovalent vs bivalent targeting unknown
    • Temporal control of target activation not mechanistically dissected
  6. 2018 High

    Identified KMT2B as the critical paralog for direct neuronal transdifferentiation and linked its targets to dystonia, providing a cell-fate and translational anchor.

    Evidence Individual/combined Kmt2a/Kmt2b inactivation in transdifferentiating MEFs with expression profiling and patient cohort sequencing (n=225)

    PMID:30355503

    Open questions at the time
    • How KMT2B suppresses the alternative myocyte program mechanistically not defined
    • Direct vs indirect regulation of dystonia candidate genes unresolved
  7. 2020 Medium

    Began defining KMT2B cofactors by showing KDM6A cooperates with it to set H3K4me3, indicating coordinated writer-eraser activity shapes its transcriptional output.

    Evidence Co-IP, KDM6A/KMT2B knockdowns, and H3K4me3 ChIP in NSCLC with tumor assays

    PMID:32879445

    Open questions at the time
    • Single Co-IP without reciprocal structural validation of the interaction
    • Whether cooperation is direct or via shared complex membership unclear
  8. 2021 Medium

    Consolidated the biochemical identity of KMT2B as a SET-domain enzyme operating within a WRAD-HCF-Menin complex responsible for promoter H3K4 trimethylation.

    Evidence Review synthesis of biochemical complex characterization

    PMID:34440566

    Open questions at the time
    • Review-level synthesis rather than new primary complex reconstitution
    • Stoichiometry and KMT2B-specific complex composition not directly assayed here
  9. 2021 Medium

    Provided direct molecular evidence that DYT-KMT2B pathogenesis acts through haploinsufficiency by measuring reduced H3K4me3 in patient tissue.

    Evidence Western blot of purified oral mucosa histones from a patient with a KMT2B premature-stop mutation vs controls

    PMID:38108041

    Open questions at the time
    • Single case limits statistical strength
    • Does not link H3K4me3 loss to specific dysregulated neuronal genes
  10. 2024 Medium

    Strengthened the haploinsufficiency model by replicating reduced H3K4me3 in patient-derived oral keratinocytes and fibroblasts across a cohort.

    Evidence Western blot H3K4me3/H4 ratio in 12 DYT-KMT2B patients vs 12 controls

    PMID:38810319

    Open questions at the time
    • Surrogate peripheral tissue rather than neurons
    • Genome-wide locus-level consequences in disease tissue not mapped
  11. 2025 Medium

    Identified an upstream recruitment determinant, showing PRC1 components KDM2B and RING1B are required for genome-wide KMT2B promoter occupancy and bivalent H3K4me3.

    Evidence ChIP-seq for Kmt2b and H3K4me3 in Kdm2b and Ring1b conditional KO ESCs (preprint)

    PMID:40463144

    Open questions at the time
    • Preprint, not yet peer-reviewed
    • Whether KDM2B recruits KMT2B directly or via intermediary factors unresolved
  12. 2025 Medium

    Distinguished KMT2B's transcriptional output from related chromatin regulators, defining specific target genes and a unique program separate from KDM5C or KDM6A loss.

    Evidence CRISPR/Cas9 KO with ATAC-seq, RNA-seq, and chromatin-bound proteomics in HEK293T

    PMID:41331063

    Open questions at the time
    • Direct promoter binding at JUN/HOXA10 not shown by ChIP here
    • Single cell-line context
  13. 2026 Medium

    Across multiple cancers, mapped KMT2B to defined promoter targets and downstream signaling/degradation cascades, showing its H3K4me3 activity is co-opted for oncogenic and therapy-resistance phenotypes.

    Evidence ChIP/ChIP-re-ChIP, Co-IP, GST pull-down, and in vivo tumor models for EGF, FYN, SHPRH, RBBP6 targets and PI3K-AKT/ubiquitination axes

    PMID:34606908 PMID:35597996 PMID:36594087 PMID:40741875 PMID:42011633

    Open questions at the time
    • Each cascade established in a single lab/tumor type
    • Whether KMT2B-target promoter binding is direct versus complex-mediated not uniformly shown

Open questions

Synthesis pass · forward-looking unresolved questions
  • How KMT2B achieves locus selectivity and the precise molecular chain from genome-wide H3K4me3 loss to the neuronal dysfunction of dystonia remain unresolved.
  • No structural model of the KMT2B-WRAD-Menin complex on chromatin in the corpus
  • Mechanism linking H3K4me3 loss to specific dystonia neural circuits unestablished
  • Reported mitochondrial phenotype in patient fibroblasts lacks a mechanistic rescue

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 3 GO:0140110 transcription regulator activity 3 GO:0016740 transferase activity 2 GO:0042393 histone binding 1
Localization
GO:0000228 nuclear chromosome 3 GO:0005634 nucleus 2
Pathway
R-HSA-4839726 Chromatin organization 4 R-HSA-74160 Gene expression (Transcription) 4 R-HSA-1266738 Developmental Biology 2
Partners
ASH2LDPY30HCF1KDM2BKDM6AMENINRBBP5WDR5
Complex memberships
KMT2B-WRAD-Menin-HCF complex (WDR5, RbBP5, ASH2L, DPY30, HCF1/2, Menin)

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2012 KMT2B (Wbp7/MLL4) is required in macrophages for expression of Pigp, an essential component of the GPI-GlcNAc transferase catalyzing the first step of GPI anchor synthesis; loss of Wbp7 abolishes GPI anchor-dependent loading of proteins (including CD14) on the cell membrane, markedly attenuating LPS-triggered intracellular signaling and gene expression Genomic approach in Wbp7-/- macrophages; loss-of-function with defined cellular phenotype (loss of GPI-anchored proteins, impaired LPS signaling) Immunity High 22483804
2013 KMT2B is required for RNA polymerase II association and H3K4 trimethylation at the MagohB CpG island promoter; in cells lacking Kmt2b, the MagohB promoter loses active chromatin marks, RNA Pol II binding, and becomes DNA-methylated; re-expression of KMT2B is sufficient to reinstate an active, unmethylated MagohB promoter, demonstrating that KMT2B maintains transcriptionally active and DNA-methylation-protected states at CpG island promoters Conditional knockout ESCs with kinetic studies; ChIP, bisulfite sequencing, RNA Pol II binding assays, rescue by KMT2B re-expression Molecular and cellular biology High 23358417
2013 KMT2B (mll2/kmt2b) is required for hippocampus-dependent memory formation; forebrain-specific conditional knockout mice show impaired memory, downregulation of 152 hippocampal genes, and a specific deficit in H3K4 di- and trimethylation at plasticity genes, while H3K4 monomethylation is unaffected Forebrain excitatory neuron-specific conditional KO mice; behavioral memory tests; DNA microarray; ChIP for H3K4me1/2/3 The Journal of neuroscience High 23426673
2016 KMT2B is specifically recruited to the IL-20 promoter by estrogen receptor alpha (ERα) in MCF-7 cells, where it mediates H3K4 methylation to activate IL-20 transcription; depletion of KMT2B disrupts estrogen signaling, attenuates cell proliferation, reduces colony formation, and causes cell cycle arrest; other MLL family members are not recruited to this promoter ChIP with KMT2B-specific antibody; siRNA knockdown; cell proliferation and colony formation assays; cell cycle analysis PloS one Medium 27806114
2017 KMT2A and KMT2B control largely distinct genomic regions and different molecular pathways linked to neuronal plasticity; knockdown of Kmt2b in hippocampal neurons causes H3K4 methylation loss and gene deregulation at different loci than Kmt2a knockdown, indicating non-redundant functions of these closely related H3K4 methyltransferases Hippocampal neuron-specific knockdown of Kmt2a or Kmt2b; ChIP-seq for H3K4 methylation; RNA-seq; comparative genomic analysis Cell reports High 28723559
2018 Kmt2b catalyzes H3K4me3 at both bivalent (H3K27me3-marked) promoters and at a novel class of monovalent promoters (lacking H3K27me3) in spermatogonial stem cells (SSCs); monovalent targets are activated in late spermatogenesis while bivalent targets are activated during embryonic development; Kmt2b is required for the SSC-to-progenitor transition Kmt2b conditional KO in SSCs; ChIP-seq for H3K4me3 and H3K27me3; RNA-seq; functional stem cell assays Development (Cambridge, England) High 30504434
2018 KMT2B is selectively required for direct neuronal transdifferentiation (fibroblast to induced neurons) by suppressing the alternative myocyte program and inducing neuronal maturation genes; combined Kmt2a/Kmt2b inactivation shows Kmt2b as the critical factor for this process; loss of Kmt2b exposes candidate dystonia genes whose variants are found in dystonia patients Individual and combined Kmt2a/Kmt2b inactivation in MEFs undergoing BAM (Brn2/Ascl1/Myt1l)-driven transdifferentiation; iN conversion efficiency; gene expression profiling; patient cohort sequencing (n=225) Cell reports High 30355503
2020 KDM6A co-localizes and cooperates with KMT2B to reprogram the transcriptional network in NSCLC via regulation of H3K4me3 (but not H3K27me2/3 or H3K4me1/2); KDM6A knockdown reduces H3K4me3 levels, indicating KMT2B-dependent H3K4me3 deposition is the key epigenetic output of this cooperation Co-immunoprecipitation; siRNA knockdown of KDM6A or KMT2B; H3K4me3 ChIP; in vitro and in vivo tumor assays Oncogene Medium 32879445
2021 KMT2B forms a protein complex with WRAD (WDR5, RbBP5, ASH2L, DPY30), HCF1/2, and Menin through its C-terminal SET domain, and this complex is responsible for H3K4 trimethylation at specific gene promoters and cis-regulatory sites; the SET domain is the catalytic domain for methyltransferase activity Literature synthesis (review) with reference to biochemical complex characterization studies Life (Basel, Switzerland) Medium 34440566
2022 KMT2B promotes RFK gene transcription by upregulating H3K4 methylation at the RFK promoter, which activates the TNF-α/NOX2 axis; KMT2B knockdown attenuates cardiomyocyte apoptosis and ferroptosis in myocardial ischemia-reperfusion injury; immunoprecipitation confirmed interaction between KMT2B and RFK siRNA knockdown and plasmid overexpression in H9C2 cardiomyocytes; adenoviral delivery in rats; ChIP for H3K4 methylation at RFK promoter; co-immunoprecipitation; cell apoptosis and infarct area assays Journal of molecular and cellular cardiology Medium 36162497
2022 KMT2B upregulates SNHG12 lncRNA expression through H3K4me3 modification at the SNHG12 promoter in renal cell carcinoma, promoting tumor growth and angiogenesis; ChIP confirmed increased H3K4me3 at the SNHG12 promoter in KMT2B-overexpressing cells, and KMT2B knockdown reduced SNHG12 expression ChIP-seq and ChIP-qPCR for H3K4me3; siRNA knockdown of KMT2B; RIP assay; in vivo xenograft model Cancer cell international Medium 35597996
2023 KMT2B promotes metastasis and angiogenesis of cervical cancer by increasing H3K4me3 at the EGF promoter, upregulating EGF expression and activating the PI3K-AKT pathway; KMT2B showed increased binding to EGF promoter by ChIP-qPCR; blocking EGFR abolished KMT2B-induced PI3K-AKT signaling, migration, and invasion H3K4me3 ChIP-seq; ChIP-qPCR; KMT2B overexpression; EGFR inhibitor treatment; in vivo subcutaneous and tail-vein metastasis models International journal of biological sciences Medium 36594087
2021 KMT2B loss in DYT-KMT2B patients results in markedly reduced H3K4me3 levels detectable in oral mucosa; Western blotting of purified histone proteins from oral mucosal cells confirmed reduction of H3K4me3 in a patient with de novo KMT2B mutation causing premature stop codon compared to controls Western blotting of purified histone proteins from oral mucosa using anti-H3K4me3 antibody; patient with verified KMT2B loss-of-function mutation vs. controls Molecular syndromology Medium 38108041
2024 KMT2B loss results in reduced H3K4me3 in oral keratinocytes and gingival fibroblasts of DYT-KMT2B patients; analysis of 12 patients vs. 12 controls showed markedly reduced H3K4me3/H4 ratio in DYT-KMT2B oral mucosa, supporting KMT2B haploinsufficiency as the pathogenic mechanism Western blotting of purified oral mucosa histone proteins; anti-H3K4me3 and anti-H4 antibodies; 12 patients vs. 12 controls Parkinsonism & related disorders Medium 38810319
2021 KMT2B promotes SHPRH expression via H3K4me3 modification at the SHPRH promoter in thyroid carcinoma; SHPRH then modulates FYN ubiquitination, promoting FYN protein degradation; loss of KMT2B reduces SHPRH expression, stabilizes FYN, and confers radioiodine (131I) resistance; overexpression of KMT2B sensitizes cells to 131I ChIP for H3K4me3 at SHPRH promoter; overexpression and knockdown experiments; ubiquitination assays; in vitro and in vivo tumor assays Cellular signalling Medium 34606908
2025 Fbxl10/Kdm2b (a PRC1 component) is required for genome-wide occupancy of Kmt2b/Mll2 at promoters; loss of Kdm2b depletes Mll2 from both bivalent and active promoters genome-wide; loss of Kdm2b or Ring1b (core PRC1) reduces H3K4me3 specifically at bivalent promoters, revealing direct cooperation between PRC1 and Kmt2b at bivalent promoters ChIP-seq for Kmt2b and H3K4me3 in Kdm2b and Ring1b conditional KO ESCs; computational correlation analysis; genome-wide occupancy measurements bioRxivpreprint Medium 40463144
2025 KMT2B loss in CRISPR/Cas9 KO HEK293T cells causes depletion of H3K4me3 at specific loci, upregulation of JUN and downregulation of HOXA10, and impacts cytokine signaling; chromatin accessibility, transcriptomics, and chromatin-bound proteomics show KMT2B loss has a distinct transcriptional output compared to KDM5C or KDM6A loss CRISPR/Cas9 KO; multi-omics profiling (ATAC-seq, RNA-seq, chromatin-bound proteomics) in HEK293T cells Communications biology Medium 41331063
2024 KMT2B exerts oncogenic effects in pancreatic ductal adenocarcinoma by regulating the downstream target gene FYN through histone H3K4 trimethylation at the FYN promoter, leading to activation of the PI3K/Akt signaling pathway; KMT2B was significantly upregulated in PDAC and promoted malignant behaviors in vitro and in vivo ChIP-seq and RNA-seq in PDAC cell lines; KMT2B knockdown/overexpression; subcutaneous and orthotopic mouse models; PI3K/Akt pathway analysis Clinical and translational medicine Medium 40741875
2026 KMT2B induces H3K4me3 modification at the RBBP6 promoter to enhance RBBP6 expression; RBBP6 then facilitates ubiquitinated degradation of STAT1, suppressing STAT1-driven DPP4 transcription and restoring radioiodine sensitivity in thyroid carcinoma; sequential ChIP-re-ChIP confirmed co-binding of KMT2B and H3K4me3 at the RBBP6 promoter Sequential ChIP-re-ChIP; co-immunoprecipitation for STAT1 ubiquitination; GST pull-down for RBBP6-STAT1 interaction; ChIP for STAT1 at DPP4 promoter; functional 131I resistance assays Epigenomics Medium 42011633
2024 KMT2B variants in DYT-KMT2B patient fibroblasts cause differentially expressed genes significantly enriched for mitochondria-related biological processes, and patient fibroblasts show altered mitochondrial morphology and impaired aerobic respiration Transcriptomics and proteomics in patient-derived fibroblasts; mitochondrial morphology imaging; aerobic respiration assays; KMT2B genotyping by NGS Parkinsonism & related disorders Low 39418857

Source papers

Stage 0 corpus · 98 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1994 YAP1 dependent activation of TRX2 is essential for the response of Saccharomyces cerevisiae to oxidative stress by hydroperoxides. The EMBO journal 401 8313910
2002 Thioredoxin-2 (TRX-2) is an essential gene regulating mitochondria-dependent apoptosis. The EMBO journal 258 11927553
2016 Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature genetics 181 27992417
2016 Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. American journal of human genetics 127 27839873
2013 Histone-methyltransferase MLL2 (KMT2B) is required for memory formation in mice. The Journal of neuroscience : the official journal of the Society for Neuroscience 108 23426673
2020 KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain : a journal of neurology 87 33150406
2017 KMT2A and KMT2B Mediate Memory Function by Affecting Distinct Genomic Regions. Cell reports 74 28723559
2012 The histone methyltransferase Wbp7 controls macrophage function through GPI glycolipid anchor synthesis. Immunity 74 22483804
2002 Thioredoxin-2 but not thioredoxin-1 is a substrate of thioredoxin peroxidase-1 from Drosophila melanogaster: isolation and characterization of a second thioredoxin in D. Melanogaster and evidence for distinct biological functions of Trx-1 and Trx-2. The Journal of biological chemistry 70 11877442
2019 Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Movement disorders : official journal of the Movement Disorder Society 60 31216378
2022 Brown adipose TRX2 deficiency activates mtDNA-NLRP3 to impair thermogenesis and protect against diet-induced insulin resistance. The Journal of clinical investigation 52 35202005
2019 Update on KMT2B-Related Dystonia. Current neurology and neuroscience reports 48 31768667
2014 CERKL interacts with mitochondrial TRX2 and protects retinal cells from oxidative stress-induced apoptosis. Biochimica et biophysica acta 46 24735978
2010 Reduction of oxidative cellular damage by overexpression of the thioredoxin TRX2 gene improves yield and quality of wine yeast dry active biomass. Microbial cell factories 45 20152017
2018 Kmt2b conveys monovalent and bivalent H3K4me3 in mouse spermatogonial stem cells at germline and embryonic promoters. Development (Cambridge, England) 38 30504434
2017 KMT2B rare missense variants in generalized dystonia. Movement disorders : official journal of the Movement Disorder Society 38 28520167
2015 Age-related changes in mitochondrial antioxidant enzyme Trx2 and TXNIP-Trx2-ASK1 signal pathways in the auditory cortex of a mimetic aging rat model: changes to Trx2 in the auditory cortex. The FEBS journal 37 25996168
2013 GluR6-FasL-Trx2 mediates denitrosylation and activation of procaspase-3 in cerebral ischemia/reperfusion in rats. Cell death & disease 37 23949220
2018 Phenotype variability and allelic heterogeneity in KMT2B-Associated disease. Parkinsonism & related disorders 36 29653907
2017 The Role of NOX4 and TRX2 in Angiogenesis and Their Potential Cross-Talk. Antioxidants (Basel, Switzerland) 35 28594389
2022 KMT2B-dependent RFK transcription activates the TNF-α/NOX2 pathway and enhances ferroptosis caused by myocardial ischemia-reperfusion. Journal of molecular and cellular cardiology 34 36162497
2020 Histone 3 lysine-27 demethylase KDM6A coordinates with KMT2B to play an oncogenic role in NSCLC by regulating H3K4me3. Oncogene 34 32879445
2022 Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. Brain : a journal of neurology 33 34590685
2010 Loss of Trx-2 enhances oxidative stress-dependent phenotypes in Drosophila. FEBS letters 33 20600005
2013 The histone methyltransferase KMT2B is required for RNA polymerase II association and protection from DNA methylation at the MagohB CpG island promoter. Molecular and cellular biology 31 23358417
2021 Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile. Clinical epigenetics 30 34380541
2018 KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes. Cell reports 30 30355503
2017 Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 29 29289525
2021 Structure, Activity and Function of the MLL2 (KMT2B) Protein Lysine Methyltransferase. Life (Basel, Switzerland) 25 34440566
2019 Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. Journal of human genetics 25 31165786
2016 Regulation of IL-20 Expression by Estradiol through KMT2B-Mediated Epigenetic Modification. PloS one 22 27806114
2015 Single nucleotide polymorphisms in the Trx2/TXNIP and TrxR2 genes of the mitochondrial thioredoxin antioxidant system and the risk of diabetic retinopathy in patients with Type 2 diabetes mellitus. Journal of diabetes and its complications 22 26763822
2018 Targeting of TRX2 by miR-330-3p in melanoma inhibits proliferation. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 21 30257313
1992 Thioredoxin genes in Saccharomyces cerevisiae: map positions of TRX1 and TRX2. Yeast (Chichester, England) 20 1561834
2025 Estrogen-dependent activation of TRX2 reverses oxidative stress and metabolic dysfunction associated with steatotic disease. Cell death & disease 17 39890799
2022 Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders. Epigenomics 17 35506254
2019 A Unique SUMO-Interacting Motif of Trx2 Is Critical for Its Mitochondrial Presequence Processing and Anti-oxidant Activity. Frontiers in physiology 17 31555141
2023 Histone Methyltransferase KMT2B Promotes Metastasis and Angiogenesis of Cervical Cancer by Upregulating EGF Expression. International journal of biological sciences 16 36594087
2011 Increase in Trx2/Prx3 redox system immunoreactivity in the spinal cord and hippocampus of aged dogs. Experimental gerontology 16 21871553
2020 Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia. Journal of movement disorders 15 32241076
2020 Molecular and functional explication of thioredoxin mitochondrial-like protein (Trx-2) from big-belly seahorse (Hippocampus abdominalis) and expression upon immune provocation. Fish & shellfish immunology 14 32081809
2020 Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants. Parkinsonism & related disorders 14 32634684
2023 Histone demethylase KDM6A coordinating with KMT2B regulates self-renewal and chemoresistance of non-small cell lung cancer stem cells. Translational oncology 13 37683307
2012 Modification of the TRX2 gene dose in Saccharomyces cerevisiae affects hexokinase 2 gene regulation during wine yeast biomass production. Applied microbiology and biotechnology 13 22223102
2024 Zbtb16 increases susceptibility of atrial fibrillation in type 2 diabetic mice via Txnip-Trx2 signaling. Cellular and molecular life sciences : CMLS 11 38349408
2022 Adult-onset KMT2B-related dystonia. Brain communications 11 36483457
2021 Nrg1β Released in Remote Ischemic Preconditioning Improves Myocardial Perfusion and Decreases Ischemia/Reperfusion Injury via ErbB2-Mediated Rescue of Endothelial Nitric Oxide Synthase and Abrogation of Trx2 Autophagy. Arteriosclerosis, thrombosis, and vascular biology 11 34039018
2016 Doxycycline Protects Thymic Epithelial Cells from Mitomycin C-Mediated Apoptosis In Vitro via Trx2-NF-κB-Bcl-2/Bax Axis. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 11 26828432
2020 Rivaroxaban ameliorates angiotensin II-induced cardiac remodeling by attenuating TXNIP/Trx2 interaction in KKAy mice. Thrombosis research 10 32521334
2024 Txnrd2 Attenuates Early Brain Injury by Inhibition of Oxidative Stress and Endoplasmic Reticulum Stress via Trx2/Prx3 Pathway after Intracerebral Hemorrhage in Rats. Neuroscience 9 38513765
2024 Mutations of ARID1B, PIK3C2B, KMT2B, and FAT1 genes influence clinical outcome in newly diagnosed myeloma. Cancer genetics 9 39536425
2022 KMT2B promotes the growth of renal cell carcinoma via upregulation of SNHG12 expression and promotion of CEP55 transcription. Cancer cell international 9 35597996
2021 Mechanisms of Trx2/ASK1-Mediated Mitochondrial Injury in Pemphigus Vulgaris. BioMed research international 9 33763469
2020 Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation. BMC neurology 9 32546208
2024 Gastric Adenocarcinomas with CDX2 Induction Show Higher Frequency of TP53 and KMT2B Mutations and MYC Amplifications but Similar Survival Compared with Cancers with No CDX2 Induction. Journal of clinical medicine 8 39768557
2019 Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing. Frontiers in neurology 8 31338059
2024 Perillaldehyde pretreatment alleviates cerebral ischemia-reperfusion injury by improving mitochondrial structure and function via the Nrf2/Keap1/Trx2 axis. Phytomedicine : international journal of phytotherapy and phytopharmacology 7 39765034
2023 KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort. Journal of movement disorders 7 37309110
2022 TRX2/Rab35 Interaction Impairs Exosome Secretion by Inducing Rab35 Degradation. International journal of molecular sciences 7 35743001
2021 Yixin-Shu Capsules Ameliorated Ischemia-Induced Heart Failure by Restoring Trx2 and Inhibiting JNK/p38 Activation. Oxidative medicine and cellular longevity 7 33643519
2021 Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype. Clinical genetics 7 34477219
2021 Pallidal Deep Brain Stimulation for KMT2B Related Dystonia in An Indian Patient. Annals of Indian Academy of Neurology 7 34728955
2021 KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment. Molecular syndromology 7 35418819
2020 Edaravone inhibits procaspase-3 denitrosylation and activation through FasL-Trx2 pathway in KA-induced seizure. Fundamental & clinical pharmacology 7 32215950
2022 A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing. Molecular genetics & genomic medicine 6 35293157
2024 Hepatitis B Virus-KMT2B Integration Drives Hepatic Oncogenic Processes in a Human Gene-edited Induced Pluripotent Stem Cells-derived Model. Cellular and molecular gastroenterology and hepatology 5 39419394
2015 Overexpression of yeast thioredoxin TRX2 reduces p53-mediated cell death in yeast. Applied microbiology and biotechnology 5 26264138
2010 Thioredoxin and redox signaling in vasculature-studies using Trx2 endothelium-specific transgenic mice. Methods in enzymology 5 20609919
2022 Irisin Ameliorates Oxidative Stress-Induced Injury in Pancreatic Beta-Cells by Inhibiting Txnip and Inducing Stat3-Trx2 Pathway Activation. Oxidative medicine and cellular longevity 4 36111165
2020 Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases. Molecular biology reports 4 33300088
2022 Dystonic Tremor in Adult-onset DYT-KMT2B. Internal medicine (Tokyo, Japan) 3 35022352
2021 KMT2B promotes SHPRH expression to regulate 131I sensitivity in thyroid carcinoma cells by affecting FYN protein stability. Cellular signalling 3 34606908
2025 Multi-omics elucidation of KDM5C, KDM6A, and KMT2B roles in cancer epigenetic dysregulation and transcriptional reprogramming. Communications biology 2 41331063
2024 Novel KMT2B gene mutation in MUC4 positive low-grade fibromyxoid sarcoma. Diagnostic pathology 2 38347522
2024 Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool. Clinical epigenetics 2 39587624
2024 Coral calcium hydride promotes peripheral mitochondrial division and reduces AT-II cells damage in ARDS via activation of the Trx2/Myo19/Drp1 pathway. Journal of pharmaceutical analysis 2 40177064
2023 Child Neurology: KMT2B-Related Dystonia in a Young Child With Worsening Gait Abnormality. Neurology 2 37041082
2023 Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia. Molecular syndromology 2 38108041
2021 A Novel Mutation in KMT2B Gene Causing Childhood-onset Generalized Dystonia with Expanded Phenotype from India. Neurology India 2 34747823
2020 A severe case of status dystonicus caused by a de novo KMT2B missense mutation. European journal of medical genetics 2 32877735
2025 Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders. Parkinsonism & related disorders 1 39933316
2025 Fbxl10/Kdm2b is required for Kmt2b/Mll2 binding across the genome and regulates H3K4 methylation on bivalent promoters. bioRxiv : the preprint server for biology 1 40463144
2025 Analysis of hepatitis B virus integration identifies KMT2B as a novel cancer-related gene in pancreatic cancer. Clinical and translational medicine 1 40741875
2024 Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B. Parkinsonism & related disorders 1 38810319
2024 The clinical spectrum and pathogenesis associated with KMT2B variants in Chinese pediatric patients. Parkinsonism & related disorders 1 39418857
2022 Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: Case report. Biomedica : revista del Instituto Nacional de Salud 1 36122281
2020 KMT2B and Neuronal Transdifferentiation: Bridging Basic Chromatin Mechanisms to Disease Actionability. Neuroscience insights 1 32596666
2012 [Cloning and expression of fusion gene of amyloid beta binding alcohol dehydrogenase decoy peptide aptamer (TRX1-ABAD-DP-TRX2)]. Zhonghua yi xue za zhi 1 22490659
2026 Clinical, imaging and genetic profile of KMT2B-related dystonia: a review of published cases. Journal of neural transmission (Vienna, Austria : 1996) 0 41925783
2026 KMT2B induces the H3K4 trimethylation of RBBP6 promoter to enhance the 131I sensitivity in thyroid carcinoma by restraining STAT1/DPP4 axis. Epigenomics 0 42011633
2025 KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. ArXiv 0 39990802
2025 [Dystonia caused by a mutation in the KMT2B gene]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 0 41524375
2024 Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report. Frontiers in genetics 0 38425714
2024 [Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients]. Revista de neurologia 0 38743022
2024 Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation. Annals of neurosciences 0 39840144
2022 [A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene]. Rinsho shinkeigaku = Clinical neurology 0 36288966
2020 Effect of Bugu granules in a drug-containing serum on chondrocyte apoptosis and the Trx2 signaling pathway. Zeitschrift fur Rheumatologie 0 31468163
2019 Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia. Journal of human genetics 0 31388109

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