SHANK2 Antibody, FITC conjugated

說明書

中文名稱：

SHANK2兔多克隆抗體, FITC偶聯
貨號：

CSB-PA892492LC01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) SHANK2 Polyclonal antibody
Uniprot No.：

Q9UPX8
基因名：

SHANK2
別名：

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
反應種屬：

Human
免疫原：

Recombinant Human SH3 and multiple ankyrin repeat domains protein 2 protein (728-822AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

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.
基因功能參考文獻：
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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相關疾病：

Autism 17 (AUTS17)
亞細胞定位：

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
組織特異性：

Isoform 3 is present in epithelial colonic cells (at protein level).
數據庫鏈接：

HGNC: 14295

OMIM: 603290

KEGG: hsa:22941

STRING: 9606.ENSP00000345193

UniGene: Hs.268726

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