SHANK2

SH3 and multiple ankyrin repeat domains 2

Summary

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]

Known Variants330 total

rsidPosition (GRCh37)AllelesClassClinVar
rs51399611:70,314,597T/A—likely benign
rs6188587411:70,314,872G/C—likely benign
rs117027510711:70,314,945T/G—uncertain significance
rs14762553611:70,315,027G/C—uncertain significance
rs56864338611:70,315,499G/C—uncertain significance
rs135751630911:70,315,728C/T—uncertain significance
rs7837870611:70,315,729G/A—uncertain significance
rs104162824011:70,315,907T/C—uncertain significance
rs5567863911:70,316,391G/A—likely benign
rs215462511:70,317,377A/C—likely benign
rs37142937711:70,317,429A/C—uncertain significance
rs159147058611:70,317,952A/G—uncertain significance
rs87997109711:70,318,383G/T—uncertain significance
rs56899061611:70,318,389G/A—uncertain significance
rs58778045911:70,319,030G/A—uncertain significance
rs20124299111:70,319,049G/A—uncertain significance
rs1228564511:70,319,088G/A—likely benign
rs52995237211:70,319,148G/A—likely benign
rs78243984111:70,319,207T/C—uncertain significance
rs250351113311:70,319,246G/A—uncertain significance
rs20023227711:70,319,250C/T—likely benign
rs78276478111:70,319,251G/A—likely benign
rs250351170811:70,319,276C/T—uncertain significance
rs78223602411:70,319,283G/A—likely benign
rs205861727411:70,319,293G/A—uncertain significance
rs155514913311:70,319,299C/A—uncertain significance
rs78178645311:70,319,339C/T—uncertain significance
rs55310308411:70,319,349G/C—likely benign
rs14013489011:70,319,373C/T—likely benign
rs205862078911:70,319,445C/T—likely benign
rs14728889811:70,319,499C/T—likely benign
rs14104052111:70,319,503G/A—likely benign
rs14244429511:70,319,510G/C—likely benign
rs136823359011:70,319,530A/G—uncertain significance
rs15085712811:70,319,533A/G—likely benign
rs13924794511:70,319,538C/T—likely benign
rs18760530211:70,323,300G/T—likely benign
rs11776747311:70,326,593T/Aupstream gene variant—
rs205878541011:70,331,414C/G—uncertain significance
rs205878642911:70,331,468C/A—pathogenic
rs15002146311:70,331,472C/T—conflicting classifications of pathogenicity
rs155515273611:70,331,473G/A—uncertain significance
rs156552612111:70,331,492G/A—conflicting classifications of pathogenicity
rs155515279111:70,331,551A/G—uncertain significance
rs54398857411:70,331,576C/T—likely benign
rs36795676111:70,331,605T/C—likely benign
rs78259312811:70,331,612C/A—likely benign
rs249546475811:70,331,618C/T—likely benign
rs14127605911:70,331,641G/A—likely benign
rs78181729111:70,331,701G/A—likely benign
rs78281092611:70,331,702C/T—uncertain significance
rs159148651711:70,331,722C/T—uncertain significance
rs249547142911:70,331,836G/A—likely benign
rs249547178011:70,331,851A/T—uncertain significance
rs54936218211:70,331,880C/T—likely benign
rs155515309211:70,331,916C/T—likely benign
rs126110822311:70,331,936C/T—uncertain significance
rs14359507311:70,331,937G/A—benign
rs78195879211:70,331,942C/T—uncertain significance
rs55712163711:70,331,960G/T—benign
rs213572763011:70,331,968A/C—uncertain significance
rs155515315011:70,332,015G/T—uncertain significance
rs249547734511:70,332,052G/A—uncertain significance
rs118992003211:70,332,061G/A—uncertain significance
rs155515318511:70,332,075C/T—likely benign
rs78189006111:70,332,085A/G—conflicting classifications of pathogenicity
rs13873513311:70,332,091T/C—likely benign
rs55953762511:70,332,102C/T—conflicting classifications of pathogenicity
rs11698446011:70,332,111A/G—likely benign
rs78225332611:70,332,118C/T—likely benign
rs14730564911:70,332,126G/A—likely benign
rs78191531811:70,332,155G/T—likely benign
rs13922406111:70,332,167A/G—likely benign
rs159148737511:70,332,170G/A—uncertain significance
rs54442995411:70,332,203C/T—conflicting classifications of pathogenicity
rs56262637911:70,332,215G/A—likely benign
rs205879992511:70,332,220G/A—uncertain significance
rs155515326611:70,332,226A/C—uncertain significance
rs37147346211:70,332,230G/C—uncertain significance
rs19142247811:70,332,246C/T—benign
rs15108166111:70,332,267C/T—likely benign
rs78231124911:70,332,268G/A—likely benign
rs78204039411:70,332,269C/T—uncertain significance
rs121836319511:70,332,273G/A—likely benign
rs54658847511:70,332,294G/A—likely benign
rs205880188311:70,332,296T/C—uncertain significance
rs37030582911:70,332,311C/T—uncertain significance
rs78205953211:70,332,332C/T—uncertain significance
rs78205379311:70,332,438G/A—uncertain significance
rs105030619611:70,332,480G/A—likely benign
rs78203733011:70,332,510C/T—uncertain significance
rs155515358411:70,332,527T/G—uncertain significance
rs249549137211:70,332,547G/C—uncertain significance
rs56047550411:70,332,609C/A—likely benign
rs249549391611:70,332,652A/G—uncertain significance
rs78187380411:70,332,691C/A—uncertain significance
rs159148855911:70,332,694T/C—uncertain significance
rs130109116311:70,332,851C/T—uncertain significance
rs78266709711:70,332,856C/T—uncertain significance
rs155515385111:70,332,857C/T—uncertain significance

Showing 100 of 330 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.