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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PDE3A
phosphodiesterase 3A
Chromosome 12 Β· 12p12.2
NCBI Gene: 5139Ensembl: ENSG00000172572.8HGNC: HGNC:8778UniProt: Q14432
89PubMed Papers
21Diseases
18Drugs
9Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular response to transforming growth factor beta stimulusapoptotic signaling pathwaynegative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathwaypositive regulation of vascular permeabilityBrachydactyly - arterial hypertensionbrachydactyly-arterial hypertension syndromecoronary artery diseasecardiovascular disease
✦AI Summary

PDE3A is a cyclic nucleotide phosphodiesterase that hydrolyzes cAMP and cGMP, key second messengers regulating diverse physiological processes 1234. Beyond its catalytic function, PDE3A participates in estrogen-induced apoptosis by stabilizing the PDE3A/SLFN12 complex, promoting SLFN12 dephosphorylation and activating its pro-apoptotic ribonuclease activity, potentially relevant in placental remodeling 56. In oocyte maturation, cGMP from cumulus cells inhibits PDE3A, maintaining elevated cAMP that blocks meiosis. During the LH surge, reduced cGMP removes this inhibition, allowing PDE3A to hydrolyze cAMP and trigger meiotic resumption 78. In platelets, thrombospondin-1 increases PDE3A activity to suppress cAMP-mediated inhibition of platelet aggregation 9. Gain-of-function PDE3A mutations cause hypertension with brachydactyly (HTNB), increasing vascular smooth muscle proliferation and vascular resistance 1011. Paradoxically, these mutations provide cardiac protection despite prolonged hypertension by altering local cAMP signaling and calcium handling in cardiomyocytes 10. Clinically, PDE3A-SLFN12 complex induction shows anti-cancer potential 12, though a first-in-human trial of PDE3A-SLFN12 inducer BAY 2666605 was terminated due to mechanism-based thrombocytopenia 13.

Sources cited
1
PDE3A is a cyclic nucleotide phosphodiesterase with cAMP and cGMP specificity
PMID: 1315035
2
PDE3A regulates key second messengers in physiological processes
PMID: 25961942
3
PDE3A substrate specificity for cyclic nucleotides
PMID: 8155697
4
PDE3A cyclic nucleotide phosphodiesterase function
PMID: 8695850
5
PDE3A/SLFN12 complex in estrogen-induced apoptosis and placental remodeling
PMID: 31420216
6
E2-stabilized PDE3A/SLFN12 complex and pro-apoptotic signaling
PMID: 34707099
7
PDE3A inhibition by cGMP during oocyte meiotic maturation
PMID: 35209923
8
PDE3A role in oocyte meiosis regulation
PMID: 16959524
9
TSP-1 modulates PDE3A activity in platelet cAMP signaling
PMID: 33538796
10
PDE3A gain-of-function mutations cause HTNB and cardiac protection
PMID: 36259389
11
PDE3A mutations in hypertension with brachydactyly and cardioprotection
PMID: 37035914
12
PDE3A-SLFN12 complex induction as anti-cancer mechanism
PMID: 32613204
13
PDE3A-SLFN12 inducer BAY 2666605 clinical trial results and thrombocytopenia
PMID: 39437010
Disease Associationsβ“˜21
Brachydactyly - arterial hypertensionOpen Targets
0.75Strong
brachydactyly-arterial hypertension syndromeOpen Targets
0.70Moderate
coronary artery diseaseOpen Targets
0.67Moderate
cardiovascular diseaseOpen Targets
0.67Moderate
strokeOpen Targets
0.65Moderate
hypertensionOpen Targets
0.61Moderate
asthmaOpen Targets
0.60Moderate
heart failureOpen Targets
0.59Moderate
essential thrombocythemiaOpen Targets
0.57Moderate
Airway obstructionOpen Targets
0.57Moderate
congestive heart failureOpen Targets
0.55Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.54Moderate
Ischemic strokeOpen Targets
0.50Moderate
Recurrent thrombophlebitisOpen Targets
0.50Moderate
intermittent vascular claudicationOpen Targets
0.50Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
type 2 diabetes mellitusOpen Targets
0.47Moderate
ThrombocytosisOpen Targets
0.47Moderate
chronic bronchitisOpen Targets
0.46Moderate
familial thrombocytosisOpen Targets
0.46Moderate
Hypertension and brachydactyly syndromeUniProt
Pathogenic Variants9
NM_000921.5(PDE3A):c.1346G>A (p.Gly449Asp)Pathogenic
Brachydactyly-arterial hypertension syndrome|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 449
NM_000921.5(PDE3A):c.1346G>T (p.Gly449Val)Pathogenic
Brachydactyly-arterial hypertension syndrome|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 449
NM_000921.5(PDE3A):c.2551A>G (p.Thr851Ala)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 851
NM_000921.5(PDE3A):c.1339G>A (p.Ala447Thr)Pathogenic
Brachydactyly-arterial hypertension syndrome|Inborn genetic diseases
β˜…β˜†β˜†β˜†2018β†’ Residue 447
NM_000921.5(PDE3A):c.1324ACC[3] (p.Thr445del)Likely pathogenic
Brachydactyly-arterial hypertension syndrome
β˜†β˜†β˜†β˜†2019β†’ Residue 445
NM_000921.5(PDE3A):c.1334C>G (p.Thr445Ser)Pathogenic
Brachydactyly-arterial hypertension syndrome
β˜†β˜†β˜†β˜†2015β†’ Residue 445
NM_000921.5(PDE3A):c.1340C>T (p.Ala447Val)Pathogenic
Brachydactyly-arterial hypertension syndrome
β˜†β˜†β˜†β˜†2015β†’ Residue 447
NM_000921.5(PDE3A):c.1333A>G (p.Thr445Ala)Pathogenic
Brachydactyly-arterial hypertension syndrome
β˜†β˜†β˜†β˜†2015β†’ Residue 445
NM_000921.5(PDE3A):c.1334C>A (p.Thr445Asn)Pathogenic
Brachydactyly-arterial hypertension syndrome
β˜†β˜†β˜†β˜†2015β†’ Residue 445
View on ClinVar β†—
Drug Targets18
AMINOPHYLLINEApproved
Adenosine receptor antagonist
asthma
ANAGRELIDEApproved
Phosphodiesterase 3 inhibitor
Thrombocytosis
ANAGRELIDE HYDROCHLORIDEApproved
Phosphodiesterase 3 inhibitor
essential thrombocythemia
CILOSTAZOLApproved
Phosphodiesterase 3A inhibitor
DIPYRIDAMOLEApproved
3',5'-cyclic phosphodiesterase inhibitor
coronary artery disease
DYPHYLLINEApproved
Phosphodiesterase 4 inhibitor
ENOXIMONEApproved
Phosphodiesterase 3 inhibitor
cardiovascular disease
ENSIFENTRINEApproved
Phosphodiesterase 3 inhibitor
IBUDILASTApproved
Phosphodiesterase 10A inhibitor
Castleman disease
INAMRINONEApproved
Phosphodiesterase 3A inhibitor
cardiovascular disease
INAMRINONE LACTATEApproved
Phosphodiesterase 3A inhibitor
heart disease
K-134Phase II
Phosphodiesterase 3 inhibitor
arteriosclerosis
LEVOSIMENDANApproved
Phosphodiesterase 3 inhibitor
cardiovascular disease
MILRINONEApproved
Phosphodiesterase 3A inhibitor
cardiovascular disease
MILRINONE LACTATEApproved
Phosphodiesterase 3A inhibitor
Ventricular arrhythmia
OXTRIPHYLLINEApproved
Adenosine receptor antagonist
Cough
PENTOXIFYLLINEApproved
Adenosine A2 receptor antagonist
cardiovascular disease
THEOPHYLLINEApproved
Phosphodiesterase 4 inhibitor
asthma
Related Genes
GMPSProtein interaction99%AKAP7Protein interaction97%APRTProtein interaction96%ADCY1Protein interaction92%ADCY2Protein interaction92%ADCY3Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Ovary
4%
Lung
3%
Brain
2%
Liver
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
PDE3AGMPSAKAP7APRTADCY1ADCY2ADCY3
PROTEIN STRUCTURE
Preparing viewer…
PDB7L27 Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.76LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.56 [0.42–0.76]
RankingsWhere PDE3A stands among ~20K protein-coding genes
  • #5,373of 20,598
    Most Researched89
  • #90of 1,025
    FDA-Approved Drug Targets17 Β· top 10%
  • #2,947of 5,498
    Most Pathogenic Variants9
  • #6,132of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedPDE3A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Discovering the anti-cancer potential of non-oncology drugs by systematic viability profiling.
PMID: 32613204
Nat Cancer Β· 2020
1.00
2
Signaling mechanisms and their regulation during in vivo or in vitro maturation of mammalian oocytes.
PMID: 35209923
Reprod Biol Endocrinol Β· 2022
0.90
3
First-in-Human Dose-Escalation Study of the First-in-Class PDE3A-SLFN12 Complex Inducer BAY 2666605 in Patients with Advanced Solid Tumors Coexpressing SLFN12 and PDE3A.
PMID: 39437010
Clin Cancer Res Β· 2024
0.80
4
Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.
PMID: 36259389
Circulation Β· 2022
0.70
5
Mutations in Phosphodiesterase 3A (
PMID: 37035914
Hypertension Β· 2023
0.60