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    GENE:

    KMT2B (Lysine Methyltransferase 2B)

    i
    Other names: KMT2B, Lysine Methyltransferase 2B, MLL2, TRX2, HRX2, WBP7, MLL4, Histone-Lysine N-Methyltransferase 2B, KIAA0304, CXXC10, MLL1B, Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) 4, Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 4, Lysine (K)-Specific Methyltransferase 2B, WBP-7, Histone-Lysine N-Methyltransferase MLL4, Mixed Lineage Leukemia Gene Homolog 2, Lysine N-Methyltransferase 2B, WW Domain Binding Protein 7, WW Domain-Binding Protein 7, Trithorax Homologue 2, Trithorax Homolog 2, DYT28, MRD68
    5d
    Aberrant epithelial differentiation may contribute to endometrial polyp formation: insights from single-cell analysis. (PubMed, Syst Biol Reprod Med)
    Study limitations include scRNA-seq restricted to the proliferative phase, which may limit generalizability. Nevertheless, future functional studies using primary epithelial organoids derived from EPs may provide a physiologically relevant model to evaluate targeted therapeutic strategies including hormonal interventions with potential applications in infertility management.
    Journal
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    MECOM (MDS1 And EVI1 Complex Locus) • KMT2B (Lysine Methyltransferase 2B)
    18d
    Clinicopathological and molecular features of acquired cystic disease-associated renal cell carcinoma (PubMed, Zhonghua Bing Li Xue Za Zhi)
    ACD-RCC is a rare renal cell carcinoma that occurs in patients with end-stage renal disease and has unique morphological features. It is often associated with favorable prognosis and alterations in genes related to the MTOR/TSC pathway or chromatin modification.
    Journal
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    ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • KMT2C (Lysine Methyltransferase 2C) • TSC2 (TSC complex subunit 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • TSC1 (TSC complex subunit 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • MME (Membrane Metalloendopeptidase) • KMT2B (Lysine Methyltransferase 2B) • GATA3 (GATA binding protein 3) • PAX8 (Paired box 8) • TFEB (Transcription Factor EB 2)
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    TP53 mutation
    1m
    Genetic profiling of mammary periductal stromal tumors with histologic correlation highlights high-grade and low-grade groups and similarities to phyllodes tumors. (PubMed, Mod Pathol)
    In summary, we describe herein the genetic landscape of PDST, demonstrate correlation of genetic features with high-grade versus low-grade histology, and identify TP53 among key oncogenic drivers of HGPDST, including in Li-Fraumeni Syndrome. The genetics of HGPDST overlap with borderline or malignant PT, consistent with their classification as PT variants that arise through a MED12-independent pathway.
    Journal
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    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CD34 (CD34 molecule) • ARID2 (AT-Rich Interaction Domain 2) • HMGA2 (High mobility group AT-hook 2) • KMT2B (Lysine Methyltransferase 2B) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    3ms
    Multi-omics elucidation of KDM5C, KDM6A, and KMT2B roles in cancer epigenetic dysregulation and transcriptional reprogramming. (PubMed, Commun Biol)
    Finally, integrative analyzes demonstrated strong correlations between promoter accessibility, transcription factor occupancy, and gene expression, and uncovered cooperation between epigenetic and genetic drivers. Together, these findings reveal context-dependent functional hierarchies among HMEs and underscore the necessity of multi-layered analyses to resolve the complexity of epigenetic regulation in cancer.
    Journal
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    KDM6A (Lysine Demethylase 6A) • KDM5C (Lysine Demethylase 5C) • GATA2 (GATA Binding Protein 2) • KMT2B (Lysine Methyltransferase 2B) • TP73 (Tumor Protein P73) • JUNB (JunB Proto-Oncogene AP-1 Transcription Factor Subunit) • PATZ1 (POZ/BTB And AT Hook Containing Zinc Finger 1) • HOXA10 (Homeobox A10)
    3ms
    Hypoxia Rewires Histone Methylation in Glioblastoma Cells via Enzyme Reprogramming Despite Disruption of One-Carbon Metabolism. (PubMed, Biochemistry)
    Instead, we observed site-specific changes driven by altered expression of methyltransferases and demethylases, particularly decreased KMT1F (H3K9 methylation) and KMT2B (H3K4 methylation) and increased KDM2A (H3K36 demethylation), KDM3A (H3K9 demethylation), and KMT5A/SETD8 (H4K20 monomethylation). These findings reveal that the histone methylation landscape under hypoxia is governed by a compensatory interplay between one-carbon metabolism and chromatin-modifying enzyme regulation.
    Journal
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    KMT2B (Lysine Methyltransferase 2B) • KDM3A (Lysine Demethylase 3A) • KMT5A (Lysine Methyltransferase 5A)
    4ms
    Genetic landscape of non-UV-induced cutaneous squamous cell carcinomas. (PubMed, J Pathol)
    Taken together, this study provides a comprehensive description of non-UV-induced cSCC and identifies that KMT2B is mutated and involved in non-UV-induced cSCC carcinogenesis.
    Journal • Tumor mutational burden
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • NOTCH1 (Notch 1) • KMT2B (Lysine Methyltransferase 2B)
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    TP53 mutation
    4ms
    Comparative analysis reveals recurrent molecular alterations in low-risk HPV6 and HPV11-associated squamous cell carcinoma of the uterine cervix and vulva. (PubMed, Mod Pathol)
    We provide evidence that SCCs associated with low-risk HPV are distinct entities, differing from those related to high-risk HPV and more closely resembling HPV-independent neoplasms. Given that low-risk HPV-associated SCCs of the cervix and vulva exhibit unique morphological and molecular features, they should either be described separately within existing classification systems or classified as a distinct new entity.
    Journal
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    TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • FGFR2 (Fibroblast growth factor receptor 2) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • TERT (Telomerase Reverse Transcriptase) • ASXL1 (ASXL Transcriptional Regulator 1) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2) • NOTCH2 (Notch 2) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • CARD11 (Caspase Recruitment Domain Family Member 11) • NOTCH3 (Notch Receptor 3) • STAG2 (Stromal Antigen 2) • KMT2B (Lysine Methyltransferase 2B) • EPHA5 (EPH Receptor A5) • FNDC1 (Fibronectin Type III Domain Containing 1) • BCORL1 (BCL6 Corepressor Like 1)
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    ARID1A mutation • FGFR2 mutation
    5ms
    Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma. (PubMed, BMC Cancer)
    Our analysis revealed distinct architectures and actionable alterations in UDEC. The identification of molecular subgroups provides a promising framework for prognostic stratification. Collectively, our findings not only advance our understanding of UDEC biology but also illuminate potential translational applications.
    Journal
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    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • ARID1B (AT-Rich Interaction Domain 1B) • KMT2B (Lysine Methyltransferase 2B)
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    PTEN mutation
    7ms
    Analysis of hepatitis B virus integration identifies KMT2B as a novel cancer-related gene in pancreatic cancer. (PubMed, Clin Transl Med)
    Hepatitis B virus (HBV) integrates in both tumour and adjacent para-tumour tissues of pancreatic ductal adenocarcinoma (PDAC). KMT2B, a target gene of HBV integration, promotes PDAC proliferation and metastasis in vivo and in vitro experiments. KMT2B exerts its oncogenic effects by regulating the downstream target gene FYN via histone H3K4 trimethylation, activating the PI3K/Akt signalling pathway.
    Journal
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    KMT2D (Lysine Methyltransferase 2D) • KMT2B (Lysine Methyltransferase 2B) • FYN (FYN Proto-Oncogene, Src Family Tyrosine Kinase)
    8ms
    Comprehensive assessment of genomic heterogeneity, coalterations, and outcomes of patients with colorectal cancer: An AACR GENIE project analysis. (PubMed, Surgery)
    Genomic alterations and coalteration patterns varied relative to race/ethnicity, sex, and age at disease onset. Differences in genomic alteration patterns of colorectal cancer somatic tumor cells are an important consideration to help address disparities among different demographic groups.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • CREBBP (CREB binding protein) • FAT1 (FAT atypical cadherin 1) • KMT2B (Lysine Methyltransferase 2B)
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    TP53 mutation • KRAS mutation • BRAF mutation
    11ms
    The Status of SOX2 Expression in Gastric Cancers with Induction of CDX2 Defines Groups with Different Genomic Landscapes. (PubMed, Genes (Basel))
    Notable differences are present in the genomic landscape of CDX2-induced gastric cancer depending on the level of expression of SOX2 mRNA. Despite this, SOX2 mRNA expression levels were not prognostic.
    Journal • Tumor mutational burden • MSi-H Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • FGFR1 (Fibroblast growth factor receptor 1) • ARID1A (AT-rich interaction domain 1A) • CCNE1 (Cyclin E1) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • SOX2 • CDX2 (Caudal Type Homeobox 2) • KMT2B (Lysine Methyltransferase 2B)
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    TP53 mutation • TMB-H • MSI-H/dMMR • HER-2 amplification • HER-2 mutation
    12ms
    Comprehensive genomic analysis in sporadic early-onset colorectal adenocarcinoma patients. (PubMed, BMC Cancer)
    Overall, the genomic landscape between early- and adult-onset CRC appears similar. However, our study revealed the enrichment of NOTCH1, FBXW7, PIK3CA, and FGFR3 along with KRAS G12 mutations, were more frequent in early-onset compared to adult-onset cases. Further studies with a larger cohort of patients on the comprehensive analysis of genetic/epigenetic signatures are required.
    Journal
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    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • FGFR3 (Fibroblast growth factor receptor 3) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • KMT2B (Lysine Methyltransferase 2B)
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    TP53 mutation • KRAS mutation • EGFR mutation • BRAF mutation • NRAS mutation • PIK3CA mutation • ARID1A mutation • KRAS G12
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