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KMT2B Antibody

  • 货号：
    CSB-PA590426
  • 规格：
    ￥2024
  • 图片：
    • Immunohistochemical analysis of paraffin-embedded Human brain tissue using at dilution 1/40.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) KMT2B Polyclonal antibody
  • Uniprot No.：
    Q9UMN6
  • 基因名：
    KMT2B
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthetic peptide corresponding to residues near the N terminal of Human lysine (K)-specific methyltransferase 2D
  • 免疫原种属：
    Homo sapiens (Human)
  • 克隆类型：
    Polyclonal
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:50-1:100
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place. Likely plays a redundant role with KMT2C in enriching H3K4me1 marks on primed and active enhancer elements. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation.
  • 基因功能参考文献：
    1. Gene silencing experiments of MLL4 and the subunits PA1 and PTIP confirm TGF-beta-specific genes to be regulated by the MLL4 complex, which links TGF-beta signaling to transcription regulation by the MLL4 methyltransferase complex. PMID: 28976802
    2. Summary of variants in KMT2B associated with dystonia, as well as the clinical phenotype (review) PMID: 29289525
    3. Rare missense variation in KMT2B represents an additional cause of generalized dystonia. PMID: 28520167
    4. In the univariate analyses, TP53, PPP1R3A, and KMT2B were significantly more frequently mutated in interval cancers than in screen-detected cancers. PMID: 27587435
    5. we describe a method to seamlessly modify a putative CDK2 phosphorylation site on MLL2 to restrict its phosphorylation and activation. Specifically, by utilizing dimeric CRISPR RNA-guided nucleases, RFNs (commercially known as the NextGENtrade mark CRISPR), in combination with an excision-only piggyBactrade mark transposase, we demonstrate how to generate a point mutation of threonine-542, a predicted site to prevent M... PMID: 27075976
    6. The crucial role of KMT2B in the physiological control of voluntary movement. PMID: 27992417
    7. MLL4 mutation along with BRCA1 mutation confers chemoresistance in breast cancer. PMID: 28124401
    8. Results show that KMT2B interacts with ERalpha to bind the ERalpha-binding sites of IL-20 and other ERalpha target genes with H3K4 modifications suggesting an important role for KMT2B in the epigenetic transcriptional regulation of cytokine IL-20, and other ERalpha-responsive genes, in breast cancer cells. PMID: 27806114
    9. findings thus establish generalized dystonia as the human phenotype associated with haploinsufficiency of KMT2B; moreover, we provide evidence for a causative role of disordered histone modification, chromatin states, and transcriptional deregulation in dystonia pathogenesis PMID: 27839873
    10. The results explain how the MLL SET domains of MLL1 and MLL4 are able to add multiple methyl groups to the target histone H3 lysine. PMID: 26320581
    11. The Aven RGG/RG motif bound G4 structures within the coding regions of the MLL1 and MLL4 mRNAs increasing their polysomal association and translation, resulting in the induction of transcription of leukemic genes. PMID: 26267306
    12. We propose that MLL3 and MLL4 are broadly required for controlling MAFA and MAFB transactivation during development and postnatally. PMID: 26180087
    13. HBV-MLL4 integration occurred frequently in Chinese HCC patients, representing a unique molecular segment for HCC with HBV infection PMID: 25901726
    14. Chromosomal translocation in a pediatric undifferentiated spindle cell sarcoma have characterized this alteration to show rearrangement of the MLL4 and GPS2 genes, resulting in fusion gene MLL4-GPS2, the expression of which promotes independent growth. PMID: 25139254
    15. KMT2B transgene mediates hippocampal histone 3 lysine 4 di- and trimethylation and is a critical player for memory formation. PMID: 23426673
    16. knockdown of MLL4 severely affects cell-cycle progression and induces apoptotic cell death in cultured tumour cells. PMID: 22713656
    17. Alterations of the CxxC domain preclude oncogenic activation of mixed-lineage leukemia 2 PMID: 19060922
    18. data suggest that the translocation breakpoint of MLL4 gene is one of the preferential targets for HBV DNA integration into the MLL4 gene and the HBV DNA integration may be involved in liver oncogenesis PMID: 18320596

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  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    Class V-like SAM-binding methyltransferase superfamily, Histone-lysine methyltransferase family, TRX/MLL subfamily
  • 组织特异性：
    Widely expressed. Highest levels in testis. Also found in brain with higher expression in the cerebellum than in any other region, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocyte
  • 数据库链接：

    HGNC: 15840

    OMIM: 606834

    KEGG: hsa:9757

    STRING: 9606.ENSP00000222270

    UniGene: Hs.676457