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SHANK2 Antibody

  • 货号：
    CSB-PA008288
  • 规格：
    ￥880
  • 图片：
    • Western Blot analysis of RAW264.7 cells using Shank 2 Polyclonal Antibody
  • 其他：

产品详情

  • Uniprot No.：
    Q9UPX8
  • 基因名：
  • 别名：
    SHANK2 antibody; CORTBP1 antibody; KIAA1022 antibody; PROSAP1 antibody; SH3 and multiple ankyrin repeat domains protein 2 antibody; Shank2 antibody; Cortactin-binding protein 1 antibody; CortBP1 antibody; Proline-rich synapse-associated protein 1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthesized peptide derived from the Internal region of Human Shank 2.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    ELISA 1:20000
  • 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：
    Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction.
  • 基因功能参考文献：
    1. We report a deletion including the SHANK2 gene in a female child with dysmorphic features, microcephaly, and global developmental delay, providing additional evidence for SHANK2 involvement in intellectual disability PMID: 28211979
    2. In one family, seven siblings with schizophrenia spectrum disorders each carry a novel private missense variant within the SHANK2 gene. PMID: 27001614
    3. The present study demonstrated that depletion of SHANK2 inhibited the osteo/dentinogenic differentiation potentials in human stem cells from apical papilla PMID: 27641545
    4. variants in the SHANK2 gene in a schizophrenia patient cohort PMID: 25560758
    5. Knockdown of endogenous Shank2E or overexpression of a dominant-negative Shank2E mutant inhibited the glucocorticoid-mediated increase in CFTR. PMID: 24811177
    6. syndapin I functions reflected direct, SH3 domain-mediated associations and functional interactions with ProSAP1/Shank2. PMID: 24751538
    7. Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. PMID: 23468870
    8. deletion of ProSAP1/Shank2 results in an early, brain-region-specific upregulation of ionotropic glutamate receptors at the synapse and increased levels of ProSAP2/Shank3 PMID: 22699619
    9. we confirmed that de novo SHANK2 deletions are present in patients with ASD and showed that several SHANK2 variants reduce the number of synapses in vitro PMID: 22346768
    10. dominant negative effect translates into dose-dependent altered cognitive behavior of SHANK2-R462X-expressing mice, with an impact on the penetrance of ASD PMID: 21994763
    11. we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation PMID: 20473310
    12. betaPix up-regulates NHE3 membrane expression and activity by Shank2-mediated protein-protein interaction and by activating Rho GTPases in the apical regions of epithelial cells PMID: 20080968
    13. Shank2 increased the membrane expression and basal activity of NHE3 and attenuated the cAMP-dependent inhibition of NHE3 activity. PMID: 16293618

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  • 相关疾病：
    Autism 17 (AUTS17)
  • 亚细胞定位：
    Apical cell membrane. Cytoplasm. Cell junction, synapse. Cell junction, synapse, postsynaptic density. Cell projection, growth cone. Cell projection, dendritic spine.
  • 蛋白家族：
    SHANK family
  • 组织特异性：
    Isoform 3 is present in epithelial colonic cells (at protein level).
  • 数据库链接：

    HGNC: 14295

    OMIM: 603290

    KEGG: hsa:22941

    STRING: 9606.ENSP00000345193

    UniGene: Hs.268726