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SHANK3

From SNPedia

is agene
is mentioned by
Full nameSH3 and multiple ankyrin repeat domains 3
EntrezGene85358
PheGenI85358
VariationViewer85358
ClinVarSHANK3
GeneCardsSHANK3
dbSNP85358
SADR85358
HugeNav85358
wikipediaSHANK3
googleSHANK3
gopubmedSHANK3
EVSSHANK3
HEFalMpSHANK3
MyGene2SHANK3
23andMeSHANK3
EnsemblENSG00000251322
OMIM606230
# SNPs9
 Max MagnitudeChromosome positionSummary
rs387906932050,721,182
rs387906933050,698,797
rs3975147055.150,678,666
rs76705869050,720,865
rs7970449365.150,721,512
rs878853150050,720,757
rs879255534050,721,764
rs961691550,679,152

SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 (ProSAP2), is a protein that in humans is encoded by the SHANK3 gene on chromosome 22.Wikipedia

Many genetic variants have been linked to autism, but few are penetrant enough to induce the disorder on their own. Mutations in, and copy number variations (CNVs) involving, the SHANK3 gene are reported to be the most common, occurring in up to 2% percent of those with autism according to a 2014 meta-analysis.[PMID 25188300OA-icon.png]

Focusing only on mutations (and not CNVs), truncating SHANK3 coding-sequence variants were found in 0.5% of autistic patients, with apparently an enrichment of truncating mutations in exon 21a (of SHANK3). Individuals with SHANK3 truncating mutations displayed autism with moderate to severe/profound ID (mean IQ: 31±8), whereas individuals carrying SHANK3 deletions also had manifestations of Phelan-McDermid syndrome according to this same study.[PMID 25188300OA-icon.png]