SHANK2 Antibody, FITC conjugated

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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HGNC: 14295

OMIM: 603290

KEGG: hsa:22941

STRING: 9606.ENSP00000345193

UniGene: Hs.268726