Aliases: CENTB2, CNT-B2
Chromosome No: 3
Chromosome Band: 3q29
Genetic Category: Rare single gene variant-Functional
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 10
Evidence score: 2
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Relevance to Autism
Meta-analysis of CNV data from 11,614 affected individuals with NDDs and 4,031 controls individuals from the SFARI database, followed by the identification of driver risk genes within identified NDD-risk CNV loci, in Azidane et al., 2024 found that ACAP2 was a high confidence NDD-risk gene located in the 3q29 locus; furthermore, deletions of this gene were found to be transmitted to all children with ASD in four families from the iHart cohort in the same report. De novo missense variants in ACAP2 have also been identified in ASD probands (Satterstrom et al., 2020; Zhou et al., 2022).
Molecular Function
The protein encoded by this gene is a GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) that acts upstream of or within the actin filament-based process and is located in membrane ruffles. Bhat et al., 2020 reported that ACAP2 was required to promote tunneling nanotubes and vesicle trafficking in neuronal cell lines.
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