Aliases: ALC-GAMMA, CDHR13, CS2, CSTN2, alcagamma
Chromosome No: 3
Chromosome Band: 3q23
Genetic Category: Functional-Rare single gene variant
ASD Reports: 5
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
A 9-year-old girl from a consanguineous family who presented with ASD, intellectual disability, and ADHD was identified with a homozygous missense variant in the CLSTN2 gene that was novel and predicted to be deleterious (Monies et al., 2017). Clstn2-knockout mice [Clstn2 (-/-)] have been shown to exhibit hyperactivity and deficits in learning and memory (Lipina et al., 2016), as well as stereotyped behavior and, in male mice, deficits in social behavior (Ranneva et al., 2017). Loss of the CLSTN2 ortholog CASY-1 in C. elegans resulted in deficits in associative learning, which could be rescued by neuronal overexpression of human CLSTN2 (Hoerndli et al., 2009).
Molecular Function
May modulate calcium-mediated postsynaptic signals (UniProt)
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