Gene: SHANK2

Alternate names for this Gene: AUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.3-q13.4

Description of this Gene: SH3 and multiple ankyrin repeat domains 2

Type of Gene: protein-coding

rs1565527302 in SHANK2 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.

rs12575685 in SHANK2 gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs1555100954 in SHANK2 gene and Dysmorphic features PMID 27001614 2016 Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

PMID 25188300 2014 Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PMID 22346768 2012 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

PMID 27903723 2016 Cerebellar Shank2 Regulates Excitatory Synapse Density, Motor Coordination, and Specific Repetitive and Anxiety-Like Behaviors.

PMID 20473310 2010 Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

PMID 21994763 2012 Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.

PMID 28326932 2017 A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity.

PMID 25560758 2015 Identification and functional characterization of rare SHANK2 variants in schizophrenia.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 22699620 2012 Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.

rs35198051 in SHANK2 gene and Estradiol level result PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs35198051 in SHANK2 gene and Estradiol measurement PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs117767473 in SHANK2 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs7124728 in SHANK2 gene and Glioma PMID 19578367 2009 Genome-wide association study identifies five susceptibility loci for glioma.

rs1562196 in SHANK2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs7117514 in SHANK2 gene and Major Depressive Disorder PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

rs1555100954 in SHANK2 gene and Overgrowth PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

PMID 21994763 2012 Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.

PMID 20473310 2010 Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

PMID 28326932 2017 A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity.

PMID 25560758 2015 Identification and functional characterization of rare SHANK2 variants in schizophrenia.

PMID 22346768 2012 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

PMID 27001614 2016 Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

PMID 25188300 2014 Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PMID 27903723 2016 Cerebellar Shank2 Regulates Excitatory Synapse Density, Motor Coordination, and Specific Repetitive and Anxiety-Like Behaviors.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 22699620 2012 Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.

rs35198051 in SHANK2 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.