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Relevance to Autism

Genetic manipulation of GSK3B in mice has demonstrated its potential role in social behavior. GSK3B knock-in mice exhibited abnormal social preference, showing no significant preference for novel mouse compared to familiar mouse (Mines et al., 2010). Selective deletion of GSK3B in mouse forebrain pyramidal neurons led to anxiolytic and pro-social effects (Latapy et al., 2012).

Molecular Function

The protein encoded by this gene is a serine-threonine kinase, belonging to the glycogen synthase kinase subfamily. It is involved in energy metabolism, neuronal cell development, and body pattern formation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism.
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease.
Recent Recommendation
Selective deletion of forebrain glycogen synthase kinase 3 reveals a central role in serotonin-sensitive anxiety and social behaviour.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN416R001 
 missense_variant 
 c.968C>A 
 p.Pro323Gln 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Deletion
 1
 
3
Deletion
 1
 
3
Deletion
 1
 
3
Deletion
 2
 

Model Summary

Mice with increased activity of GSK3 (21A and 9A knockins) display impaired social memory but have similar anxiety levels and social approach (sociability) as wild type mice.

References

Type
Title
Author, Year
Primary
GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism.

M_GSK3B_1_KI_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Mice homozygous for GSK3 alpha S21A/S21A/Beta S9A/S9A mutations, these susbtitutions prevent the inhibitory serine phosphorulation of glycogen synthase kinase 3.
Allele Type: Targeted (Knockin)
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_GSK3B_1_KI_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social interaction1
Abnormal
Description: Abnormal social preference indicated by no significant preference for novel mouse compared to familiar mouse
Exp Paradigm: Comparison of interaction with familiar S1 mouse and novel S2 mouse
 Three-chamber social approach test
 3 months
Anxiety1
 No change
 Three-chamber social approach test
 3 months
Self grooming: social context1
 No change
 Three-chamber social approach test
 3 months
Social approach1
 No change
 Three-chamber social approach test
 3 months
Social approach1
 No change
 Three-chamber social approach test
 3 months
Social interaction1
 No change
 Three-chamber social approach test
 3 months
Social interaction1
 No change
 Three-chamber social approach test
 3 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
Akt1 v-akt murine thymoma viral oncogene homolog 1 24185 P47196 in vitro kinase assay
Lin CH , et al. 2015
APC adenomatous polyposis coli 324 P25054 IP/WB
Davies G , et al. 2001
AXIN1 axin 1 8312 O15169 IP; LC-MS/MS
Yu N , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 Q9WU82 MS; AP-MS; IP/WB; Bimolecular fluorescence complementation assay; High-throughput fluorescence polarization interaction analysis assay
Varjosalo M , et al. 2013
DEFA5 Defensin-5 1670 Q01523 IP; LC-MS/MS
Huttlin EL , et al. 2015
DKK3 Dickkopf-related protein 3 27122 Q9UBP4 IP; LC-MS/MS
Huttlin EL , et al. 2015
DRD2 dopamine receptor D2 1813 P14416 IP/WB
Sutton LP and Rushlow WJ 2011
FXR1 Fragile X retardation 1 8087 P51114 in vitro kinase assay
Del'Guidice T , et al. 2015
HSPH1 heat shock 105kDa/110kDa protein 1 10808 Q92598 IP; LC-MS/MS
Yu N , et al. 2015
PPP3CC protein phosphatase 3, catalytic subunit, gamma isozyme 5533 P48454 IP; LC-MS/MS
Huttlin EL , et al. 2015
RCAN1 regulator of calcineurin 1 1827 P53805 IP; LC-MS/MS
Huttlin EL , et al. 2015
SAMHD1 SAM domain and HD domain 1 25939 Q59H15 IP; LC-MS/MS
Huttlin EL , et al. 2015
tim timeless 33571 P49021 in vitro kinase assay
Top D , et al. 2016
TRAF2 TNF receptor-associated factor 2 7186 Q12933 IP; LC-MS/MS
Huttlin EL , et al. 2015
TRAK2 trafficking protein, kinesin binding 2 66008 O60296 IP; LC-MS/MS
Huttlin EL , et al. 2015
TSC1 tuberous sclerosis 1 7248 Q92574 IP/WB
Mak BC , et al. 2003
TSC2 tuberous sclerosis 2 7249 P49815 IP/WB
Mak BC , et al. 2003
TSKS Testis-specific serine kinase substrate 60385 Q9UJT2 IP; LC-MS/MS
Huttlin EL , et al. 2015
U2AF1 U2 small nuclear RNA auxiliary factor 1 7307 Q01081 IP; LC-MS/MS
Huttlin EL , et al. 2015
CTNND2 catenin (cadherin associated protein), delta 2 18163 O35927 Oh M , et al. 2009
CTNND2 catenin (cadherin associated protein), delta 2 18163 O35927 IP/WB; Co-localization
Bareiss S , et al. 2010
CTNND2 catenin (cadherin associated protein), delta 2 18163 O35927 He Y , et al. 2014
Pelp1 proline, glutamic acid and leucine rich protein 1 75273 Q9DBD5 IP; LC-MS/MS; IP/WB; in vitro kinase assay
Sareddy GR , et al. 2015
DMD dystrophin 1756 P11532 IP/WB; GST
Corts JC , et al. 2008
Pick1 protein interacting with PRKCA 1 84591 Q9EP80 in vitro kinase assay
Yagishita S , et al. 2015

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