Aliases: CENTG1, GGAP2, PIKE
Chromosome No: 12
Chromosome Band: 12q14.1
Genetic Category: Rare single gene variant
ASD Reports: 6
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 6
Evidence score: 3
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Relevance to Autism
De novo missense variants in the AGAP2 gene have previously been identified in ASD cases (De Rubeis et al., 2014; Iossifov et al., 2014). An additional de novo missense variant in this gene was identified by whole genome sequencing in an ASD proband from a multiplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of multiple de novo missense variants in ASD cases, a z-score >2.0 for missense mutations, and a higher-than expected mutation rate (a false discovery rate < 15%), AGAP2 was determined to be an ASD candidate gene in Yuen et al., 2017.
Molecular Function
The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase.
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