SHANK2 Antibody, FITC conjugated

Code CSB-PA892492LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) SHANK2 Polyclonal antibody
Uniprot No.
Target Names
SHANK2
Alternative Names
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
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human SH3 and multiple ankyrin repeat domains protein 2 protein (728-822AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
FITC
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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.

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Target Background

Function
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.
Gene References into Functions
  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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Involvement in disease
Autism 17 (AUTS17)
Subcellular Location
Apical cell membrane. Cytoplasm. Cell junction, synapse. Cell junction, synapse, postsynaptic density. Cell projection, growth cone. Cell projection, dendritic spine.
Protein Families
SHANK family
Tissue Specificity
Isoform 3 is present in epithelial colonic cells (at protein level).
Database Links

HGNC: 14295

OMIM: 603290

KEGG: hsa:22941

STRING: 9606.ENSP00000345193

UniGene: Hs.268726

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