SHISA9

Chr 16

shisa family member 9

Also known as: CKAMP44

NCBI Gene: 729993 ENSG00000237515 UniProt: B4DS77 OMIM: 613346

The protein regulates short-term neuronal synaptic plasticity by associating with AMPA glutamate receptors in synaptic spines and promoting their desensitization at excitatory synapses. The gene is highly constrained against loss-of-function variants (pLI 0.87, LOEUF 0.41), but no established human disease associations have been reported to date.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable PDZ domain binding activity. Predicted to be involved in regulation of short-term neuronal synaptic plasticity. Predicted to act upstream of or within regulation of AMPA receptor activity. Predicted to be located in synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendritic spine membrane; postsynaptic density; and postsynaptic membrane. [provided by Alliance of Genome Resources, Jun 2026]

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

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.41

LOEUF

Multiple*

Mechanism· predicted