ACAP2ArfGAP with coiled-coil, ankyrin repeat and PH domains 2
Autism Reports / Total Reports
2 / 4Rare Variants / Common Variants
6 / 0Aliases
-Associated Syndromes
-Chromosome Band
3q29Associated Disorders
-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.
External Links
SFARI Genomic Platforms
Reports related to ACAP2 (4 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
| 2 | Support | - | Shaarvari Bhat et al. (2020) | No | - |
| 3 | Support | - | Zhou X et al. (2022) | Yes | - |
| 4 | Primary | - | Sara Azidane et al. (2024) | No | ASD |
Rare Variants (6)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.467C>T | p.Thr156Ile | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.2185G>A | p.Ala729Thr | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| - | - | copy_number_loss | Familial | Maternal | Simplex | 38850022 | Sara Azidane et al. (2024) | |
| - | - | copy_number_loss | Familial | Maternal | Multiplex | 38850022 | Sara Azidane et al. (2024) | |
| - | - | copy_number_loss | Familial | Paternal | Multiplex | 38850022 | Sara Azidane et al. (2024) | |
| c.523C>T | p.Leu175Phe | missense_variant | De novo | - | - | 31981491 | Satterstrom FK et al. (2020) |
Common Variants
No common variants reported.
CNVs associated with ACAP2(1 CNVs)
Sort By:
| 3q29 | 70 | Deletion-Duplication | 105 / 496 |