PDE9A

Chr 21

phosphodiesterase 9A

Also known as: HSPDE9A2

NCBI Gene: 5152 ENSG00000160191 UniProt: O76083

The encoded phosphodiesterase specifically hydrolyzes cGMP, serving as a key regulator of natriuretic peptide-dependent signaling in the heart and cognitive functions including learning and memory in the brain. Mutations cause autosomal recessive neurodevelopmental disorder with hypotonia and seizures, typically presenting in infancy or early childhood. This gene is highly constrained against loss-of-function variants (LOEUF 0.485), indicating that complete loss of protein function is likely not well tolerated.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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

0.48

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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