PDE3A

Chr 12p12.2

phosphodiesterase 3A

Aliases:: CGI-PDE
MANE:: ENST00000359062.4

OMIM: 123805 ↗NCBI: 5139 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PDE3A · Q14432

v62025-08-01

Predicted Aligned Error matrix for PDE3A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.3/ 100

Low

1,141 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)12%
Low(50–70)9%
Very low(< 50)51%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Brachydactyly - arterial hypertension
0.74
brachydactyly-arterial hypertension syndrome
0.69
coronary artery disorder
0.67
cardiovascular disorder
0.66
stroke disorder
0.63
asthma
0.60
heart failure
0.58
essential thrombocythemia
0.58
Airway obstruction
0.57
chronic obstructive pulmonary disease
0.54

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A

Cyclic nucleotide phosphodiesterase with specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:1315035, PubMed:25961942, PubMed:8155697, PubMed:8695850). Also has activity toward cUMP (PubMed:27975297). Independently of its catalytic activity it is part of an E2/17beta-estradiol-induced pro-apoptotic signaling pathway. E2 stabilizes the PDE3A/SLFN12 complex in the cytosol, promoting the dephosphorylation of SLFN12 and activating its pro-apoptotic ribosomal RNA/rRNA ribonuclease activity. This apoptotic pathway might be relevant in tissues with high concentration of E2 and be for instance involved in placenta remodeling (PubMed:31420216, PubMed:34707099)

Curated MONDO disease pages that list PDE3A among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with PDE3A