Recombinant Human SH3 and multiple ankyrin repeat domains protein 3 (SHANK3), partial

1. SHANK3 haploinsufficiency due to point mutations alone is sufficient to cause a broad range of phenotypic features associated with Phelan-McDermid syndrome. PMID:29719671
2. Our report details a 10-year-old boy with a de novo heterozygous c.1231del, p.Arg411Val frameshift variant in SHANK3, a high-risk candidate autism gene. We report significant speech delay and seizures as an association with this phenotype. PMID:29939863
3. SHANK3 expression correlated with ZO-1 and PKCepsilon in colonic tissue of patients with Crohn's disease. The expression level of SHANK3 affects ZO-1 expression and the barrier function in intestinal epithelial cells. PMID:28906292
4. We report a family with four affected individuals including the 37 year-old mother, her 12 year-old male monozygotic twins and 8 year-old daughter harboring a novel SHANK3 interstitial microdeletion PMID:28754298
5. the present study did not provide evidences to support the fact that SHANK3 variants could influence the susceptibility to Autism spectrum disorder in the Northeastern Han Chinese population PMID:29408620
6. SHANK3 expression was increased in the neocortex of temporal lobe epilepsy patients and rats. PMID:27592227
7. Missense mutation in SHANK3 gene is associated with schizophrenia. PMID:28371232
8. This study does not provide evidence for a major role of SHANK3 in the pathogenesis of bipolar disorder. PMID:27512916
9. Partial knockdown of SHANK3 expression in human dorsal root ganglion neurons abrogates TRPV1 function. PMID:27916453
10. GWA study identified maternal genetic effects not previously identified in ASD at a locus in SHANK3. PMID:27876814
11. SHANK1 and SHANK3 act as integrin activation inhibitors by sequestering active Rap1 and R-Ras via the SPN domain and thus limiting their bioavailability at the plasma membrane. PMID:28263956
12. No specific EEG abnormality is present in epilepsy due to to SHANK3 loss-of-function mutations. PMID:27554343
13. Haploinsufficiency of SHANK3 is a predisposing factor in adults with catatonia. PMID:27519580
14. post-transcriptional regulation of SHANK3 expression by three microRNAs (miRNAs), miR-7, miR-34a, and miR-504, is reported. PMID:26572867
15. these data suggest that SHANK3 mutations predispose to autism, at least partially, by inducing an Ih channelopathy that may be amenable to pharmacological intervention. PMID:26966193
16. De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient. PMID:25931020
17. miR-7 binds to 3-prime untranslated regions of SHANK3 mRNA and causes the alteration of neuronal morphology and function, potentially playing a crucial role in the pathophysiological process of schizophrenia PMID:25882257
18. a mutation in SHANK3 that underscores its relevance in Autism Spectrum Disorder. PMID:25646853
19. This study identified and confirmed SHANK3 protein changes within the postsynaptic density in schizophrenia PMID:25048004
20. because the deletions in our patients do not involve the SHANK3 gene, we posit the existence of a new contiguous gene syndrome proximal to the smallest terminal deletions in the 22q13 region. PMID:24700646
21. This study is the first to identify specific chromosome 22q13.2q13.32 genomic regions, in addition to the terminal 22q13.33 genomic region encompassing SHANK3, associated with key phenotypes in Phelan-McDermid syndrome. PMID:24136618
22. The ability to alter the epigenetic modification and expression of SHANK3 by environmental factors suggests that SHANK3 may be a valuable biomarker for dissecting the role of gene and environment interaction in the etiology of ASD. PMID:24186872
23. our results suggested that this commonly genetic variant in SHANK3 gene strikingly decreased the risk of ism spectrum disorder in China. PMID:24398551
24. This study demonistrated that the uncoupling of ProSAP2/Shank3 nuclear shuttling from synaptic activity may represent a molecular mechanism that contributes to the pathology of SCZ in patients with mutations in ProSAP2/Shank3. PMID:24382453
25. analysis of SHANK3 mutations associated wtih autism and their effect on ligand binding to the ankyrin repeat region PMID:23897824
26. findings indicate that SHANK3 overexpression causes a hyperkinetic neuropsychiatric disorder PMID:24153177
27. We show that Phelan-McDermid syndrome neurons have reduced SHANK3 expression and major defects in excitatory, but not inhibitory, synaptic transmission PMID:24132240
28. SHANK3 variants were detected in patients affected with any autism spectrum disorders subtypes. SNP rs76224556 may have a genotype-phenotype correlation in autism spectrum disorders. PMID:22892527
29. Copy number variation in the SHANK3 is associated with variation in fluid intelligence. PMID:23300510
30. n this article we review recent findings in regard to higher brain functions of SHANK3, epigenetic regulation of SHANK3 expression, and SHANK3-related autism spectrum disorder--REVIEW PMID:22749736
31. Mutation or deletion of SHANK3 has been associated with autism. PMID:23225497
32. This study demonistrated that rare variants within the re-sequenced structural domains of ANK3 exon 48 do not contribute to BPD-I. PMID:22966748
33. This study revealed that alterations in transsynaptic signaling caused by ProSAP2/Shank3 gain or loss of function were also exhibited by neurons expressing ProSAP2/Shank3 carrying the autism-associated mutations R87C, R375C, Q396R, or InsG. PMID:23100419
34. These findings suggest that 22q13 deletions may be a more frequent cause for Chinese ID patients than previously thought, and the SHANK3 gene is involved in the neurite development PMID:22509352
35. the data of this study provided new insights into the synaptic alterations caused by SHANK3 mutations in humans and provide a robust cellular readout for the development of knowledge-based therapies. PMID:21606927
36. SHANK3 microdeletion is an important genetic component for autism, which may explain 2% typical autism cases. PMID:22093425
37. The SHANK3 gene was analyzed in 128 autistic patients with manifestations similar to those seen in the 22q13.3 deletion syndrome. PMID:21378602
38. Deletion size in the SHANK3 gene and adjacent regions determine the severity of phenotypes in Phelan-McDermid syndrome (22q13 deletion syndrome). PMID:21984749
39. [review] The presumptive exon containing the variant in the neurodevelopmentally disabled autism case highlighted in this review is not likely to be present in most or all SHANK3 transcripts. PMID:21062623
40. A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism. PMID:21271662
41. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. PMID:20385823
42. Haploinsufficiency of the gene SHANK3, which codes for a structural protein of the postsynaptic density, may be a major causative factor in the neurological symptoms of 22q13 deletion syndrome. PMID:12920066
43. Common breakpoint within SHANK3 responsible for mental retardation and developmental delays. PMID:16284256
44. Mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. PMID:17173049
45. Haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing. PMID:17999366
46. Novel de novo SHANK3 mutation in autistic patients is reported. PMID:18615476
47. Shank3 is one of a number of host synaptic proteins likely to play key roles in bacteria-host interactions. PMID:19371741
48. SHANK3 deletions may be limited to lower functioning individuals with autism PMID:19384346
49. Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3 is reported. PMID:19454329
50. We suggest that SHANK3 might not represent a major susceptibility gene for autism in Chinese Han population PMID:19566951

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HGNC: 14294

UNIGENE: Hs.149035

KEGG: hsa:85358

STRING: 9606.ENSP00000442518

OMIM: 606230