Gene: SHANK3

Alternate names for this Gene: DEL22q13.3|PROSAP2|PSAP2|SCZD15|SPANK-2

Gene Summary: This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.33

Description of this Gene: SH3 and multiple ankyrin repeat domains 3

Type of Gene: protein-coding

rs397514705 in SHANK3 gene and 22q13.3 Deletion Syndrome PMID 22892527 2013 Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

PMID 23758760 2013 Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

PMID 24132240 2013 SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.

rs762292772 in SHANK3 gene and ATRIAL SEPTAL DEFECT 1 PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs762292772 in SHANK3 gene and Atrial Septal Defects PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs1555910143 in SHANK3 gene and Autism Spectrum Disorders PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs75347843 in SHANK3 gene and Fibrinogen assay PMID 28107422 2017 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

PMID 26561523 2016 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.

rs5770820 in SHANK3 gene and Intelligence PMID 29520040 2019 Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs387906933 in SHANK3 gene and SCHIZOPHRENIA 15 PMID 20385823 2010 De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

rs9616914 in SHANK3 gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs7286601 in SHANK3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.