Human Gene Module / Chromosome 2 / KCNS3

KCNS3potassium voltage-gated channel modifier subfamily S member 3

Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
2 / 3
Rare Variants / Common Variants
2 / 0
KCNS3, KV9.3
Associated Syndromes
Genetic Category
Rare Single Gene Mutation
Chromosome Band
Associated Disorders
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.

Reports related to KCNS3 (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 Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015) Yes -
3 Recent Recommendation Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. Coe BP , et al. (2018) No -
Rare Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1239C>A p.Tyr413Ter stop_gained De novo - Simplex 25961944 Krumm N , et al. (2015)
c.1263del p.Asp422ThrfsTer37 frameshift_variant De novo - - 25363760 De Rubeis S , et al. (2014)
Common Variants  

No common variants reported.

CNVs associated with KCNS3(1 CNVs)
2p24.2 6 Deletion-Duplication 11  /  57
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