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  4. SETD2 Antibody

SETD2 Antibody

  • 货号：
    CSB-PA458397
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using CSB-PA458397(SETD2 Antibody) at dilution 1/30, on the right is treated with fusion protein. (Original magnification: ×200)
    • The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA458397(SETD2 Antibody) at dilution 1/30, on the right is treated with fusion protein. (Original magnification: ×200)
  • 其他：

产品详情

  • Uniprot No.：
    Q9BYW2
  • 基因名：
  • 别名：
    EC 2.1.1.43 antibody; FLJ16420 antibody; FLJ22472 antibody; FLJ23184 antibody; FLJ45883 antibody; HBP231 antibody; HIF 1 antibody; HIF-1 antibody; HIF1 antibody; HIP-1 antibody; Histone lysine N methyltransferase SETD2 antibody; Histone-lysine N-methyltransferase SETD2 antibody; hSET2 antibody; HSPC069 antibody; Huntingtin interacting protein 1 antibody; Huntingtin interacting protein antibody; Huntingtin interacting protein B antibody; Huntingtin interacting protein HYPB antibody; Huntingtin yeast partner B antibody; Huntingtin-binding protein; 231-KD antibody; Huntingtin-interacting protein 1 antibody; Huntingtin-interacting protein B antibody; HYPB antibody; KIAA1732 antibody; KMT3A antibody; Lysine N methyltransferase 3A antibody; Lysine N-methyltransferase 3A antibody; p231HBP antibody; SET domain containing 2 antibody; SET domain-containing protein 2 antibody; SET2 antibody; SETD2 antibody; SETD2_HUMAN antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Fusion protein of Human SETD2
  • 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 1:1000-1:5000
    IHC 1:50-1:200
  • 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 specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro. Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation. Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A. Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction. Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR). Acts as a tumor suppressor. H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A. H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase. Required during angiogenesis. Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3. In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1. Trimethylates 'Lys-40' of alpha-tubulins such as TUBA1B (alpha-TubK40me3); alpha-TubK40me3 is required for normal mitosis and cytokinesis and may be a specific tag in cytoskeletal remodeling. Involved in interferon-alpha-induced antiviral defense by mediating both monomethylation of STAT1 at 'Lys-525' and catalyzing H3K36me3 on promoters of some interferon-stimulated genes (ISGs) to activate gene transcription.; (Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression.
  • 基因功能参考文献：
    1. Proteasome inhibition rescued SETD2 expression. PMID: 28663576
    2. SETD2 is required to maintain high H3K79 di-methylation and MLL-AF9-binding to critical target genes, such as Hoxa9. PMID: 29777171
    3. This study of patients with ccRCC, pooled analysis and multivariable modeling demonstrated that three recurrently mutated genes, BAP1, SETD2, and TP53, have statistically significant associations with poor clinical outcomes.important clinical confounders, mutations of TP53 and SETD2 were associated with decreased CSS and RFS, respectively. PMID: 28753773
    4. SETD2 regulates tumor growth and chemosensitivity of osteosarcoma. Overexpression of SETD2 significantly inhibited osteosarcoma cell growth in vitro and in vivo. Moreover, SETD2 significantly enhanced cisplatin-induced apoptosis in osteosarcoma cells and inhibited cancer stem cell properties in OS cells. PMID: 29842882
    5. Finally, mutations of H3G34 or H3P38 alleviate the inhibitory effects of H3K36M on H3K36 methylation, demonstrating that the stable interaction of H3K36M with SETD2 is critical for its inhibitory effects. PMID: 28256625
    6. H3G34/R/V/D mutations impair the catalytic activity of SETD2 due to steric clashes that impede optimal SETD2-H3K36 interaction promoting genome instability and tumorigenesis by inhibiting mismatch repair activity. PMID: 30181289
    7. SETD2 is a potential prognostic biomarker for overall survival and progression-free survival prediction in patients with metastatic renal cell carcinoma receiving targeted therapy PMID: 27288695
    8. This study describes SETD2 inactivation as EATL-II molecular hallmark, supports EATL-I and -II being two distinct entities, and defines potential new targets for therapeutic intervention. PMID: 27600764
    9. SETD2 and KDM5C mutations were associated with prolonged overall survival in patients with metastatic clear cell renal cell carcinoma PMID: 28408295
    10. SETD2 expression was decreased in gastric cancer. Low-level expression of SETD2 in patients was significantly correlated with poor prognosis. Overexpression of SETD2 inhibited proliferation, migration, and invasion significantly in Gastric Cancer cell lines. PMID: 29522714
    11. The fusion transcript codes for a protein in which the last 114 amino acids of SETD2, i.e., the entire Set2 Rpb1 interacting (SRI) domain of SETD2, are replaced by 30 amino acids encoded by the NF1 sequence. PMID: 28498454
    12. Our work defines SETD2 as a tumor suppressor gene in Hepatosplenic T-cell lymphoma (HSTL)and implicates genes including INO80 and PIK3CD in the disease PMID: 28122867
    13. The findings, specifically frequent mutations of STAT5B, PIK3CD, and the histone methyltransferase SETD2, may help guide translational efforts to target hepatosplenic T-cell lymphoma PMID: 28373165
    14. SETD2 Mutation is associated with Clear Cell Renal Cell Carcinomas. PMID: 28754676
    15. SETD2 downregulation affects the alternative splicing of a subset of genes implicated in intestinal tumorigenesis PMID: 28825595
    16. frequently mutated in enteropathy-associated T cell lymphoma and plays a role in T cell development PMID: 28424246
    17. SETD2 aberration as a recurrent, early loss-of-function event in CLL pathobiology linked to aggressive disease PMID: 27282254
    18. Setd2 as a potent tumor suppressor in lung adenocarcinoma. PMID: 28202515
    19. This study reports a new role for SETD2 in promoting IFNalpha-induced antiviral immune response by directly methylating STAT1 on lysine 525 and catalyzing H3K36me3 on the promoters of some IFN-stimulated genes (ISGs such as ISG15) to activate gene transcription. Thus, SETD2 enhances host antiviral immunity by strengthening IFNalpha signaling both post-translationally and epigenetically. PMID: 28753426
    20. SETD2 is a novel GIST tumour suppressor gene associated with disease progression. PMID: 26338826
    21. Results identified new role for SETD2 in the methylation of K40 of alpha-tubulin. Loss of SETD2 abolishes methylation of K40 of alpha-tubulin and results in a dysfunctional mitotic spindle and abnormalities in cytokinesis. Thus, SETD2 links chromatin and cytoskeleton homeostasis through its methyltransferase activity. PMID: 27528705
    22. Data suggest post-translational modifications of histones, trimethylation of lysine 36 in H3 (H3K36me3) and acetylation of lysine 16 in H4 (H4K16ac), have roles in DNA damage repair; H3K36me3 stimulates H4K16ac upon DNA double-strand break; SETD2, LEDGF, and KAT5 are required for these epigenetic changes. (SETD2 = SET domain containing 2; LEDGF = lens epithelium-derived growth factor; KAT5 = lysine acetyltransferase 5) PMID: 28546430
    23. SETD2 gene deletion is associated with chordoma. PMID: 27072194
    24. SPOP-containing complex regulates SETD2 stability and H3K36me3-coupled alternative splicing. PMID: 27614073
    25. one of these mutations (R2510H), located in the Set2 Rpb1 interaction domain, did not result in an observable defect in SETD2 enzymatic function, a second mutation in the catalytic domain of this enzyme (R1625C) resulted in a complete loss of histone H3 Lys-36 trimethylation (H3K36me3). PMID: 27528607
    26. functional loss of SETD2 enables renal primary tubular epithelial cells to bypass the senescence barrier by maintaining CDKN2A-E2F signaling, facilitating a malignant transformation toward Clear Cell Renal Cell Carcinoma. PMID: 27292023
    27. Mutation in SETD2 gene is associated with renal cell carcinoma. PMID: 26646321
    28. Data identify SETD2 as a dual-function methyltransferase for both chromatin and the cytoskeleton and show a requirement for methylation in maintenance of genomic stability and the integrity of both the tubulin and histone codes. PMID: 27518565
    29. This study provides evidence for HOTAIR to promote tumorigenesis via downregulating SETD2 in liver cancer stem cells. PMID: 26172293
    30. Use bioinformatic tools to predict the molecular effects of all mutations lying in SETD2 genes. PMID: 26452128
    31. This study provide the evidence SETD2 mutation releate to Autism Spectrum Disorder. PMID: 26637798
    32. Data show that SETD2 mutations are not associated with microsatellite instability in renal cancer and suggest a role for SETD2 in maintaining genome integrity through nucleosome stabilization, DNA repair and suppression of replication stress. PMID: 25728682
    33. Findings extend the knowledge about the regulation of SETD2 at the posttranscriptional level by miRNA and regulatory mechanism downstream of SETD2 in ccRCC. PMID: 25714014
    34. loss of SETD2 may afford an alternative mechanism for the inactivation of the p53-mediated checkpoint without the need for additional genetic mutations in TP53. PMID: 24843002
    35. Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia. PMID: 24662245
    36. miRNA network regulates SETD2 in in colorectal metastasis tissues. PMID: 26069251
    37. Both ASH1L and SETD2 are H3K36 specific methyltransferases but only SETD2 can trimethylate this mark. PMID: 26002201
    38. found that SETD2 mutation also mediated MMR via AKT-induced PMS2 decrease and co-loss of MLH1 loss in renal clear cell carcinoma PMID: 25528216
    39. HYPB interacts with the proline-rich region of HTT protein. PMID: 24412394
    40. association of SETD2 mutations with multiple major chromosomal translocations implies a common mechanism in various subtypes of leukemia with SETD2 mutations PMID: 25077743
    41. Data establish a presynaptic role for SETD2 methyltransferase in HR; it facilitates the recruitment of C-terminal binding protein interacting protein and promotes DSB resection, allowing Replication Protein A (RPA) and RAD51 binding to DNA damage sites. PMID: 24931610
    42. Identified two heterozygous mutations in the SETD2 gene in two patients with 'Sotos-like' syndrome. PMID: 24852293
    43. Results implicate SETD2 as a tumor suppressor gene and demonstrate that loss-of-function SETD2 mutations can facilitate the initiation and maintenance of leukemias with chromosomal translocations through a global reduction of H3K36me3. PMID: 24706662
    44. These results directly link mutations in SETD2 to chromatin accessibility changes and RNA processing defects in cancer PMID: 24158655
    45. loss-of-function point mutations in SETD2 were recurrent (6.2%) in 241 patients with acute leukemia and were associated with multiple major chromosomal aberrations PMID: 24509477
    46. Mutation frequencies among CT images of clear cell RCCs were as follows: SETD2, 7.3% (17 of 233). PMID: 24029645
    47. PBRM1, KDM6A, SETD2 and BAP1 were unmethylated in all tumor and normal specimens. PMID: 23644518
    48. BAP1 and SETD2 mutations (6%-12%) are associated with worse cancer-specific survival , suggesting their roles in disease progression. PMID: 23620406
    49. SETD3 exhibits histone methyltransferases activity on nucleosomal histone 3 in a SET-domain dependent manner. We propose that this newly identified Setd3 gene may play an important role in carcinogenesis. PMID: 23065515
    50. SETD2 mutations were found to be specific to high-grade gliomas affecting 15% of pediatric tumors(11/73) and 8% of adult high-grade gliomas (5/65), while no SETD2 mutations were identified in low-grade diffuse gliomas. PMID: 23417712

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  • 相关疾病：
    Renal cell carcinoma (RCC); Luscan-Lumish syndrome (LLS); Leukemia, acute lymphoblastic (ALL); Leukemia, acute myelogenous (AML)
  • 亚细胞定位：
    Nucleus. Chromosome.
  • 蛋白家族：
    Class V-like SAM-binding methyltransferase superfamily, Histone-lysine methyltransferase family, SET2 subfamily
  • 组织特异性：
    Ubiquitously expressed.
  • 数据库链接：

    HGNC: 18420

    OMIM: 144700

    KEGG: hsa:29072

    STRING: 9606.ENSP00000386759

    UniGene: Hs.517941