Aliases: RIBA, RIN, ROC2
Chromosome No: 18
Chromosome Band: 18q12.3
Genetic Category: Genetic association
ASD Reports: 3
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 7
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
A SNP downstream of the RIT2 gene (rs16976358) associated with ASD in a case-control analysis of 156 Japanese ASD cases and 620 Japanese controls (P-value 4.54E-06; OR 2.246, 95% CI 1.578-3.197) (Liu et al., 2015). Assocation of this SNP with ASD was replicated in a case-control analysis of 470 Iranian ASD cases and 470 Iranian controls (P-value 1.40; OR 1.40, 95% CI 1.08-1.81) (Emamalizadeh et al., 2016).
Molecular Function
This gene belongs to the RAS superfamily of small GTPases and demonstrates neuron-specific tissue expression. RIT2 has been identified as a susceptibility gene for Parkinson's disease in multiple association studies (Pankratz et al., 2012; Emamalizadeh et al., 2014; Nie et al., 2014; Wang et al., 2014; Liu et al., 2015; Zhang et al., 2015).
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