INSYN2A

Chr 10

inhibitory synaptic factor 2A

ENSG00000188916 UniProt: Q6ZSG2 OMIM: 617129

The protein functions as a scaffold component at inhibitory synapses, which dampen neuronal activity through postsynaptic hyperpolarization and are essential for precise neural signaling in the central nervous system. Mutations in this gene cause neurodevelopmental disorders with epilepsy, and inheritance follows an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to cause significant clinical effects.

OMIM ResearchSummary from RefSeq, UniProt

Component of the protein machinery at the inhibitory synapses, probably acting as a scaffold. Inhibitory synapses dampen neuronal activity through postsynaptic hyperpolarization. This synaptic inhibition is fundamental for the functioning of the central nervous system, shaping and orchestrating the flow of information through neuronal networks to generate a precise neural code

OMIM 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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.38

LOEUF

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Mechanism

Some data sources returned errors (1)