PSD3

Chr 8

pleckstrin and Sec7 domain containing 3

Also known as: EFA6D, EFA6R, HCA67

NCBI Gene: 23362 ENSG00000156011 UniProt: Q9NYI0 OMIM: 614440

PSD3 encodes a guanine nucleotide exchange factor that activates ARF6 protein and is predicted to function at glutamatergic synapses. The gene is highly constrained against loss-of-function variants (LOEUF 0.445), suggesting mutations would likely cause severe developmental disorders. However, no specific human disease has been definitively associated with PSD3 mutations to date.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Predicted to be located in membrane. Predicted to be active in glutamatergic synapse; postsynapse; and ruffle membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

antecubital pterygium syndrome · ADLimitednot for standalone diagnostic reporting

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

0.45

LOEUF

Multiple*

Mechanism· predicted