Aliases: KV9.3
Chromosome No: 2
Chromosome Band: 2p24.2
Genetic Category: Rare single gene variant-
ASD Reports: 6
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 3
Evidence score: 2
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Relevance to Autism
De novo likely-gene disruptive (LGD) variants in the KCNS3 gene have been identified in two ASD probands (De Rubeis et al., 2014; Krumm et al., 2015). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified KCNS3 as a gene with an excess of LGD variants (false discovery rata < 5%, count >1); KCNS3 was similarly identified as a gene with an excess of de novo LGD variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
Molecular Function
The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins and modulate the activity of specific functional alpha subunits.
External Links
