CLSTN3

Chr 12

calsyntenin 3

Also known as: CDHR14, CSTN3, alcbeta

NCBI Gene: 9746 ENSG00000139182 UniProt: Q9BQT9

CLSTN3 encodes a postsynaptic adhesion molecule that binds to presynaptic neurexins to mediate both excitatory and inhibitory synapse formation and regulates the balance between these synapse types. Mutations cause autosomal dominant neurodevelopmental disorders affecting cognitive function and behavior. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant clinical consequences.

ResearchSummary from RefSeq, UniProt

Enables cell-cell adhesion mediator activity and neurexin family protein binding activity. Involved in L-ascorbic acid metabolic process and regulation of synapse assembly. Predicted to be located in several cellular components, including Golgi membrane; dendrite; and postsynaptic density. Predicted to be part of protein-containing complex. Predicted to be active in several cellular components, including GABA-ergic synapse; lipid droplet; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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