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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(xiàn):
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
In one family, seven siblings with schizophrenia spectrum disorders each carry a novel private missense variant within the SHANK2 gene. PMID: 27001614
The present study demonstrated that depletion of SHANK2 inhibited the osteo/dentinogenic differentiation potentials in human stem cells from apical papilla PMID: 27641545
variants in the SHANK2 gene in a schizophrenia patient cohort PMID: 25560758
Knockdown of endogenous Shank2E or overexpression of a dominant-negative Shank2E mutant inhibited the glucocorticoid-mediated increase in CFTR. PMID: 24811177
syndapin I functions reflected direct, SH3 domain-mediated associations and functional interactions with ProSAP1/Shank2. PMID: 24751538
Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. PMID: 23468870
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
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
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
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
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
Shank2 increased the membrane expression and basal activity of NHE3 and attenuated the cAMP-dependent inhibition of NHE3 activity. PMID: 16293618