SHANK3
| is a | gene |
| is | mentioned by |
| Full name | SH3 and multiple ankyrin repeat domains 3 |
| EntrezGene | 85358 |
| PheGenI | 85358 |
| VariationViewer | 85358 |
| ClinVar | SHANK3 |
| GeneCards | SHANK3 |
| dbSNP | 85358 |
| Diseases | SHANK3 |
| SADR | 85358 |
| HugeNav | 85358 |
| wikipedia | SHANK3 |
| SHANK3 | |
| gopubmed | SHANK3 |
| EVS | SHANK3 |
| HEFalMp | SHANK3 |
| MyGene2 | SHANK3 |
| 23andMe | SHANK3 |
| Ensembl | ENSG00000251322 |
| OMIM | 606230 |
| # SNPs | 25 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1001153999 | 0 | 50,720,446 | |
| rs1057519395 | 0 | 50,721,862 | |
| rs1057519406 | 0 | 50,684,651 | |
| rs1064793514 | 0 | 50,721,942 | |
| rs1064793925 | 0 | 50,721,088 | |
| rs1064795759 | 0 | 50,722,235 | |
| rs1064796526 | 0 | 50,715,731 | |
| rs1064796528 | 0 | 50,706,117 | |
| rs1064797289 | 0 | 50,697,579 | |
| rs1064797290 | 0 | 50,697,712 | |
| rs1085307954 | 0 | 50,730,977 | |
| rs387906932 | 0 | 50,721,182 | |
| rs387906933 | 0 | 50,698,797 | |
| rs397514705 | 5.1 | 50,678,666 | |
| rs5770820 | 0 | 50,712,045 | |
| rs6010065 | 0 | 50,719,589 | |
| rs767058690 | 0 | 50,720,865 | |
| rs797044936 | 5.1 | 50,721,512 | |
| rs878853150 | 0 | 50,720,757 | |
| rs879255534 | 0 | 50,721,764 | |
| rs886041238 | 0 | 50,721,597 | |
| rs886041430 | 0 | 50,722,398 | |
| rs886041467 | 0 | 50,731,037 | |
| rs886041869 | 0 | 50,720,761 | |
| rs9616915 | 0 | 50,679,152 |
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 25188300
]
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 25188300]
