ASAP2ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
Autism Reports / Total Reports3 / 3
Rare Variants / Common Variants3 / 0
AliasesASAP2, AMAP2, CENTB3, DDEF2, PAG3, PAP, Pap-alpha, SHAG1
Genetic CategoryRare Single Gene Mutation
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)].
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.
Reports related to ASAP2 (3 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Synaptic, transcriptional and chromatin genes disrupted in autism.||De Rubeis S , et al. (2014)||Yes||-|
|2||Support||Genome-wide characteristics of de novo mutations in autism.||Yuen RK , et al. (2016)||Yes||-|
|3||Recent Recommendation||Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.||Kushima I , et al. (2018)||Yes||-|
Rare Variants (3)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|-||-||copy_number_gain||Unknown||-||-||30208311||Kushima I , et al. (2018)|
|c.602A>G||p.Tyr201Cys||missense_variant||De novo||-||-||25363760||De Rubeis S , et al. (2014)|
|c.517A>T||p.Met173Leu||missense_variant||De novo||-||Simplex||27525107||Yuen RK , et al. (2016)|
No common variants reported.
CNVs associated with ASAP2(1 CNVs)
|2p25.1||11||Deletion-Duplication||19 / 63|