Human Gene Module / Chromosome 2 / ASAP2

ASAP2ArfGAP with SH3 domain, ankyrin repeat and PH domain 2

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
3 / 3
Rare Variants / Common Variants
3 / 0
Aliases
ASAP2, AMAP2,  CENTB3,  DDEF2,  PAG3,  PAP,  Pap-alpha,  SHAG1
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
2p25.1
Associated Disorders
-
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.

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)
Common Variants  

No common variants reported.

CNVs associated with ASAP2(1 CNVs)
2p25.1 11 Deletion-Duplication 19  /  63
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