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STXBP2 Antibody

  • 货号：
    CSB-PA297913
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA297913(STXBP2 Antibody) at dilution 1/20, on the right is treated with fusion protein. (Original magnification: ×200)
    • The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using CSB-PA297913(STXBP2 Antibody) at dilution 1/20, on the right is treated with fusion protein. (Original magnification: ×200)
  • 其他：

产品详情

  • Uniprot No.：
    Q15833
  • 基因名：
    STXBP2
  • 别名：
    FHL5 antibody; Hunc18b antibody; MUNC18 2 antibody; pp10122 antibody; Protein unc-18 homolog 2 antibody; Protein unc-18 homolog B antibody; STXB2_HUMAN antibody; Stxbp2 antibody; syntaxin binding protein 2 antibody; Syntaxin-binding protein 2 antibody; Unc-18B antibody; UNC18 2 antibody; Unc18-2 antibody; UNC18B antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Fusion protein of Human STXBP2
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:2000-1:5000
    IHC 1:25-1:100
  • 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：
    Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells.
  • 基因功能参考文献：
    1. Neonatal platelets exhibit low levels of the Stx11-Munc18b complex (essential component of the SNARE machinery) and of beta1-tubulin. These developmental deficiencies are associated with defects in platelet adhesion, spreading and secretion. PMID: 29044293
    2. Among these nine polymorphisms, rs188212047 [G/T (L212F)] of STXBP2 was significantly (dominant model; P = 4.84 x 10-8; odds ratio, 2.94) associated with myocardial infarction. STXBP2 may thus be a novel susceptibility locus for myocardial infarction in Japanese. PMID: 28380445
    3. STXBP2 Gene Polymorphism is associated with Hemophagocytic Lymphohistocytosis. PMID: 27513731
    4. Mutation in STXBP2 gene is associated with hemophagocytic lymphohistiocytosis. PMID: 27781387
    5. Data show that Munc18b overexpression increased fusion of not only newcomer secretory granule (SG), but also predocked SGs in type-2 diabetes (T2D) human and Goto-Kakizaki Rat Islets. PMID: 28163042
    6. two novel mutations of STXBP2: c.184A>G and c.577A>C. c.184A>G (p.Asn62Asp) was located within a highly conserved region of the STXBP2 protein and predicted to be deleterious. PMID: 26451869
    7. mutations result in severe chronic active Epstein-Barr virus disease PMID: 25947952
    8. red blood cells express Munc18-2 and that erythroid cells from patients with FHL-5 exhibit intrinsic defects caused by STXBP2/Munc18-2 mutations. PMID: 26320718
    9. Munc18-2(R65Q) and Munc18-2(R65W) retain the ability to interact with and stabilize STX11. However, presence of Munc18-2(R65Q/W) in patient-derived lymphocytes and forced expression in control CTLs and NK cells diminishes degranulation and cytotoxicity. PMID: 25564401
    10. Data show that all but one patient with atypical familial hemophagocytic lymphohistiocytosis carried at least one splice-site mutation in UNC13D or STXBP2. PMID: 20823128
    11. Munc18-2 binds the N-terminal peptide of Stx11 with a ~20-fold higher affinity than Stx3, suggesting a potential role in selective binding. PMID: 24194549
    12. We report that FHL-5 neutrophils have a profound defect in granule mobilization, resulting in inadequate bacterial killing, in particular, of gram-negative Escherichia coli, but not of Staphylococcus aureus. PMID: 23687090
    13. Mutations in STXBP2 do not only affect cytotoxic T lymphocytes but also cause changes in the intestinal and renal epithelium resulting in severe, osmotic diarrhea and renal proximal tubular dysfunction PMID: 23382066
    14. Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity in familial hemophagocytic lymphohistiocytosis. PMID: 22336081
    15. We report the largest cohort of patients with FHL5 so far, describe an extended disease spectrum, and demonstrate for the first time a clear genotype-phenotype correlation. PMID: 22451424
    16. Missense and splice-site sequence variants in PRF1, MUNC13-4, and STXBP2 were found in 25 (14%) of the adult patients. The A91V-PRF1 genotype was found in 12 of these patients (48%). PMID: 21881043
    17. Data show that 3 novel mutations of STXBP2 gene were confirmed. PMID: 21152410
    18. Biallelic STXBP2 mutations were identified in families with familial haemophagocytic lymphohistiocytosis. PMID: 20798128
    19. mutation analysis, clinical presentation, and functional analysis of NK cells in patients with mutations in STXBP2 encoding Munc18-2, recently associated with familial hemophagocytic lymphohistiocytosis type 5 PMID: 20558610
    20. STXBP2 is required at a late step of the secretory pathway for the release of cytotoxic granules by binding syntaxin 11, another component of the intracellular membrane fusion machinery. PMID: 19884660
    21. binds to syntaxins 1A, 2, and 3 and regulates vesicle transport to the apical plasma membrane PMID: 12198139
    22. Munc18-2 acts as a regulator of primary granule exocytosis, while Munc18-3 may preferentially regulate the fusion of secondary granules PMID: 18588921
    23. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11 PMID: 19804848

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  • 相关疾病：
    Familial hemophagocytic lymphohistiocytosis 5 (FHL5)
  • 蛋白家族：
    STXBP/unc-18/SEC1 family
  • 组织特异性：
    Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes.
  • 数据库链接：

    HGNC: 11445

    OMIM: 601717

    KEGG: hsa:6813

    STRING: 9606.ENSP00000221283

    UniGene: Hs.515104