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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PDE2A
phosphodiesterase 2A
Chromosome 11 Β· 11q13.4
NCBI Gene: 5138Ensembl: ENSG00000186642.16HGNC: HGNC:8777UniProt: O00408
56PubMed Papers
21Diseases
2Drugs
9Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cGMP bindingTPR domain bindingphosphate ion bindingprotein homodimerization activityintellectual developmental disorder with paroxysmal dyskinesia or seizurescoronary artery diseasestrokegenetic disorder
✦AI Summary

PDE2A is a cyclic nucleotide phosphodiesterase that hydrolyzes both cAMP and cGMP, functioning as a critical regulator of intracellular signaling across multiple tissues and disease contexts. PDE2A exhibits tissue-specific expression, with particular enrichment in venous and capillary endothelial cells rather than arterial endothelium 1, and plays specialized roles in mitochondrial function and lymphatic development. Mechanistically, PDE2A regulates cGMP-dependent signaling pathways; in lymphatic endothelial cells, PDE2A controls junctional maturation and contact inhibition through cGMP hydrolysis, which modulates p38 and NOTCH signaling 2. In cardiac tissue, PDE2A gene therapy restores altered cAMP compartmentation in subcellular microdomains, reducing cardiac hypertrophy, fibrosis, and arrhythmias 3. Disease associations include psychiatric disorders and cancer progression. Mendelian randomization analysis identified PDE2A as protective against Tourette syndrome and schizophrenia 4, while neuroimaging studies demonstrated region-specific PDE2A mRNA reductions in psychiatric patients, particularly in the amygdala across schizophrenia, depression, and bipolar disorder 5. In hepatocellular carcinoma, low PDE2A expression paradoxically predicts poor prognosis and promotes proliferation through altered mitochondrial morphology and ATP metabolism 6. Additionally, PDE2A emerges as a prognostic biomarker in multiple cancer types with immunotherapeutic potential 7.

Sources cited
1
PDE2A is expressed in venous and capillary endothelial cells but not arterial endothelium
PMID: 10375378
2
PDE2A regulates lymphatic junctional maturation via cGMP-dependent NOTCH signaling
PMID: 38159569
3
PDE2A gene therapy restores cAMP compartmentation and reduces cardiac hypertrophy and arrhythmias
PMID: 38776406
4
PDE2A is causally associated with protection against Tourette syndrome and schizophrenia
PMID: 37605207
5
PDE2A mRNA is reduced in amygdala of schizophrenia, depression, and bipolar disorder patients in region-specific manner
PMID: 32119913
6
Low PDE2A expression predicts poor prognosis in hepatocellular carcinoma and promotes proliferation via mitochondrial dysfunction
PMID: 36611861
7
PDE2A serves as prognostic marker and immunotherapy target in multiple human cancers
PMID: 39699377
Disease Associationsβ“˜21
intellectual developmental disorder with paroxysmal dyskinesia or seizuresOpen Targets
0.68Moderate
coronary artery diseaseOpen Targets
0.56Moderate
strokeOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.42Moderate
insomniaOpen Targets
0.41Moderate
cardiovascular diseaseOpen Targets
0.39Weak
smoking initiationOpen Targets
0.38Weak
hypertensionOpen Targets
0.37Weak
intermittent vascular claudicationOpen Targets
0.37Weak
Recurrent thrombophlebitisOpen Targets
0.37Weak
chronic kidney diseaseOpen Targets
0.35Weak
rheumatoid arthritisOpen Targets
0.35Weak
choreaOpen Targets
0.34Weak
EEG abnormalityOpen Targets
0.34Weak
Generalized hypotoniaOpen Targets
0.34Weak
Interictal EEG abnormalityOpen Targets
0.34Weak
Moderate intellectual disabilityOpen Targets
0.34Weak
paroxysmal dystoniaOpen Targets
0.34Weak
Hepatitis, AlcoholicOpen Targets
0.33Weak
Neonatal sepsisOpen Targets
0.32Weak
Intellectual developmental disorder with paroxysmal dyskinesia or seizuresUniProt
Pathogenic Variants9
NM_002599.5(PDE2A):c.2256+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_002599.5(PDE2A):c.2123A>C (p.Gln708Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 708
NM_002599.5(PDE2A):c.2134-2A>GLikely pathogenic
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
β˜…β˜†β˜†β˜†2021
NM_002599.5(PDE2A):c.574_592dup (p.Gly198fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2021β†’ Residue 198
NM_002599.5(PDE2A):c.1180C>T (p.Gln394Ter)Pathogenic
6 conditions|Intellectual developmental disorder with paroxysmal dyskinesia or seizures
β˜…β˜†β˜†β˜†β†’ Residue 394
NM_002599.5(PDE2A):c.1439A>G (p.Asp480Gly)Pathogenic
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
β˜†β˜†β˜†β˜†2021β†’ Residue 480
NM_002599.5(PDE2A):c.1922+5G>APathogenic
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
β˜†β˜†β˜†β˜†2021
NM_002599.5(PDE2A):c.446C>T (p.Pro149Leu)Pathogenic
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
β˜†β˜†β˜†β˜†2021β†’ Residue 149
NM_002599.5(PDE2A):c.323+1G>APathogenic
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
β˜†β˜†β˜†β˜†2021
View on ClinVar β†—
Drug Targets2
DIPYRIDAMOLEApproved
3',5'-cyclic phosphodiesterase inhibitor
coronary artery disease
PENTOXIFYLLINEApproved
Adenosine A2 receptor antagonist
cardiovascular disease
Related Genes
AK8Protein interaction92%AK2Protein interaction91%ENTPD6Protein interaction91%ENPP1Protein interaction91%ENPP3Protein interaction91%AK3Protein interaction90%
Tissue Expression6 tissues
Heart
100%
Brain
76%
Liver
64%
Bone Marrow
60%
Ovary
34%
Lung
30%
Gene Interaction Network
Click a node to explore
PDE2AAK8AK2ENTPD6ENPP1ENPP3AK3
PROTEIN STRUCTURE
Preparing viewer…
PDB5U00 Β· 1.41 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.56Moderately Constrained
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.44 [0.34–0.56]
RankingsWhere PDE2A stands among ~20K protein-coding genes
  • #8,118of 20,598
    Most Researched56
  • #659of 1,025
    FDA-Approved Drug Targets2
  • #2,963of 5,498
    Most Pathogenic Variants9
  • #3,681of 17,882
    Most Constrained (LOEUF)0.56 Β· top quartile
Genes detectedPDE2A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identifying prognostic biomarkers and immune interactions in ovarian cancer associated with perfluorooctanoic acid exposure: Insights from comparative toxicogenomics and molecular docking studies.
PMID: 39955862
Ecotoxicol Environ Saf Β· 2025
1.00
2
Phosphodiesterases PDE2A and PDE10A both change mRNA expression in the human brain with age, but only PDE2A changes in a region-specific manner with psychiatric disease.
PMID: 32119913
Cell Signal Β· 2020
0.90
3
Comprehensive analysis of PDE2A: a novel biomarker for prognostic value and immunotherapeutic potential in human cancers.
PMID: 39699377
Braz J Med Biol Res Β· 2024
0.80
4
Phosphodiesterase and psychiatric disorders: a two-sample Mendelian randomization study.
PMID: 37605207
J Transl Med Β· 2023
0.70
5
Gene therapy with phosphodiesterases 2A and 4B ameliorates heart failure and arrhythmias by improving subcellular cAMP compartmentation.
PMID: 38776406
Cardiovasc Res Β· 2024
0.60