PDE3A

Chr 12

phosphodiesterase 3A

Also known as: CGI-PDE, CGI-PDE A, CGI-PDE-A, HTNB

NCBI Gene: 5139 ENSG00000172572 UniProt: Q14432

The protein is a cyclic nucleotide phosphodiesterase that hydrolyzes cAMP and cGMP to regulate intracellular signaling, mediating platelet aggregation and controlling vascular smooth muscle contraction and relaxation. Mutations cause hypertension and brachydactyly syndrome with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI near 0, LOEUF 0.515), suggesting intolerance to protein-disrupting mutations.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypertension and brachydactyly syndrome

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

0.52

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — PDE3A