GPRASP2
Homo sapiens
Gene Name: G protein-coupled receptor associated sorting protein 2
Aliases: DFNX7, GASP2
Chromosome No: X
Chromosome Band: Xq22.1
Genetic Category: Rare single gene variant-Functional
Aliases: DFNX7, GASP2
Chromosome No: X
Chromosome Band: Xq22.1
Genetic Category: Rare single gene variant-Functional
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 12
Evidence score: 0
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 12
Evidence score: 0
| Associated Disorders: |
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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
