Aliases: SREB, SREB2
Chromosome No: 7
Chromosome Band: 7q31.1
Genetic Category: Genetic association, functional--Rare single gene variant, functional-Rare single gene variant
ASD Reports: 5
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 3
Evidence score: 2
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Relevance to Autism
Maternally-inherited missense variants in GPR85 that altered dendritic branching following expression in mouse hippocampal neurons were observed in two unrelated Japanese ASD cases and were not seen in Japanese controls (Fujita-Jimbo et al., 2015). Overexpression of this gene in mice resulted in several behavioral abnormalities, including decreased social interaction and impaired memory (Matsumoto et al., 2008).
Molecular Function
This gene encodes an orphan G-protein coupled receptor (GPCR) that is the most conserved GPCR throughout vertebrate evolution and is expressed abundantly in brain structures exhibiting high levels of plasticity, such as the hippocampus. Common variants in this gene have been identified that associate with schizophrenia (Matsumoto et al., 2008) and affect brain function in normal subjects (Radulescu et al., 2013).
External Links
