Aliases: SMAP1L
Chromosome No: 1
Chromosome Band: 1p34.2
Genetic Category: Rare single gene variant-Genetic association
ASD Reports: 5
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
A window-based analysis of common and low-frequency genetic variation from 2,836 ASD trios from the MSSNG cohort with the summary statistics of the population-based meta-analysis from the iPSYCH project using KnockoffHybrid-Z, a statistical method for the analysis of trio and population data in genome-wide association studies, in Yang et al., 2024, identified SMAP2 as a significant loci with a false discovery rate (FDR) at 0.1 (ATAC p-value 2.05E-06). SMAP2 was initially proposed as an ASD candidate gene based on GWAS of genetic data from the Autism Genome Project in Wittkowski et al., 2014. A de novo loss-of-function variant in the SMAP2 gene has been identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while an inherited loss-of-function variant in this gene was observed in one of two ASD-affected siblings in an AGRE multiplex family (Cirnigliaro et al., 2023). Exome sequencing of 231 parent-proband trios enriched for sporadic schizophrenia cases and 34 unaffected trios identified a de novo missense variant in the SMAP2 gene in an adult schizophrenia proband (Xu et al., 2012).
Molecular Function
Predicted to enable GTPase activator activity. Predicted to be involved in regulation of catalytic activity. Predicted to be located in cytoplasm.
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