PDE2A

Chr 11AR

phosphodiesterase 2A

Also known as: CGS-PDE, IDDPADS, PDE2A1, PED2A4, cGSPDE

NCBI Gene: 5138 ENSG00000186642 UniProt: O00408 OMIM: 602658

The protein functions as a cGMP-activated cyclic nucleotide phosphodiesterase that degrades both cGMP and cAMP second messengers, with higher efficiency for cGMP. Biallelic mutations cause intellectual developmental disorder with paroxysmal dyskinesia or seizures, inherited in an autosomal recessive pattern. The gene shows high constraint against loss-of-function variants (LOEUF 0.348), indicating intolerance to protein-disrupting changes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables several functions, including 3',5'-cyclic-nucleotide phosphodiesterase activity; anion binding activity; and metal ion binding activity. Involved in several processes, including cellular response to cytokine stimulus; regulation of signal transduction; and regulation of vascular permeability. Located in several cellular components, including cytosol; mitochondrial membrane; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with paroxysmal dyskinesia or seizuresMIM #619150

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

0.35

LOEUF· LoF intol.

Multiple*

Mechanism· predicted