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Relevance to Autism

Deletion of Gprasp2 in mice resulted in autism-like behaviors and abnormal mGluR-mediated synaptic plasticity (Edfawy et al., 2019). Mutations in this gene had previously been identified in a male schizophrenia proband (Piton et al., 2011) and a female ASD proband (Butler et al., 2015).

Molecular Function

The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Abnormal mGluR-mediated synaptic plasticity and autism-like behaviours in Gprasp2 mutant mice.
Support
Whole exome sequencing in females with autism implicates novel and candidate genes.
ASD
Support
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
SCZ

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1083R001 
 missense_variant 
 c.2372T>A 
 p.Ile791Lys 
 Familial 
 Maternal 
 Multiplex 
 GEN1083R002 
 missense_variant 
 c.2437C>T 
 p.Arg813Cys 
 Unknown 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 7
 
X
Duplication
 2
 
X
Deletion
 1
 

No Animal Model Data Available

 

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