Aliases: AMAP2, CENTB3, DDEF2, PAG3, PAP, Pap-alpha, SHAG1
Chromosome No: 2
Chromosome Band: 2p25.1
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 7
Evidence score: 2
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Relevance to Autism
Rare de novo missense variants in the ASAP2 gene were identified in ASD probands by whole-exome sequencing in De Rubeis et al., 2014 and by whole-genome sequencing in Yuen et al., 2016. CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the ASAP2 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [1 CNV from ASD cases and 4 CNVs from SCZ cases (5 total) vs. 0 CNVs in controls (Odds ratio 7.68, P = 1.0E-05)].
Molecular Function
The encoded protein has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport.
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