rs781958792
This variant is located in the SHANK2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶SHANK1 polymorphisms and SNP–SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant ageAssociationN=3,055Shuang Qiu et al.(2019)· Autism Research
This candidate gene study identified 149 SHANK2 variants in 1574 Chinese Uygur schizophrenia patients and 1481 controls through targeted sequencing. Six common variants (including rs62622853 and rs3924047) showed allelic association with schizophrenia before multiple testing correction, but significance was eliminated after Bonferroni correction. Seven rare nonsynonymous variants were found exclusively in patients but not controls; notably, p.Arg739Trp and p.Leu1434Arg were novel variants predicted to be damaging by in silico analysis, and p.Val1486Ile was found in multiple patients. The authors suggest these variants may increase schizophrenia susceptibility.
About SHANK2
This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
View all SHANK2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…