Aliases: CADPS1, CAPS, CAPS1, UNC-31
Chromosome No: 3
Chromosome Band: 3p14.2
Genetic Category: Genetic association-Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 5
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
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Relevance to Autism
An intronic SNP in the CADPS gene (SNP ID rs1452075) was the index variant for a locus that demonstrated significant association with ASD in a genome-wide meta-analysis of cases and controls (P = 2.1E-07); multi-trait analysis of genome-wide association (MTAG) using GWAS data for ASD and educational attainment showed that this locus reached genome-wide significance (P = 3.17E-09) (Grove et al., 2019).
Molecular Function
This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2).
External Links
