PDE3A Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the PDE3A gene, its protein product, associated diseases, and expression patterns.
Gene Information Card
| Symbol | PDE3A |
|---|---|
| Full Name | phosphodiesterase 3A |
| Gene Type | protein-coding |
| Chromosomal Location | 12p12.2 |
| NCBI Gene ID | 5139 ncbi.nlm.nih.gov/gene/5139 |
| Ensembl ID | ENSG00000172572 |
| UniProt ID | Q14432 |
| OMIM ID | 123805 |
| HGNC ID | 8778 |
| Aliases | CGI-PDE, HcGIP, cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A |
Description
The PDE3A gene encodes phosphodiesterase 3A, an enzyme that hydrolyzes cyclic AMP (cAMP) and cyclic GMP (cGMP), playing a critical role in cellular signaling. It is involved in various physiological processes including cardiac contractility, smooth muscle relaxation, and platelet aggregation. Mutations and altered expression of PDE3A have been linked to hypertension and other cardiovascular conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Gain-of-function mutations in PDE3A increase cAMP hydrolysis, leading to altered vascular tone and elevated blood pressure. | ClinVar, OMIM |
| Brachydactyly with hypertension | Specific missense mutations in PDE3A cause constitutive activation, resulting in skeletal and vascular abnormalities. | OMIM, PubMed |
| Cardiovascular disease | PDE3A expression changes contribute to heart failure and atherosclerosis through modulation of cAMP signaling. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | High | High |
| Skeletal Muscle | Medium | Medium |
| Brain | Medium | Medium |
| Liver | Low | Low |
| Kidney | Medium | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Medium | Commonly used for functional studies |
| HeLa | Low | Low endogenous expression |
| A549 | Medium | Lung carcinoma cell line |
| HUVEC | High | Endothelial cells, relevant to vascular function |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1334A>G (p.Tyr445Cys) | Missense | Rare | Gain-of-function, associated with hypertension |
| c.2116C>T (p.Arg706Trp) | Missense | Rare | Gain-of-function, linked to brachydactyly with hypertension |
| c.1000G>A (p.Glu334Lys) | Missense | Not reported | Potential functional impact, not clinically validated |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare and may lead to reduced cAMP hydrolysis, potentially affecting cardiac contractility, but no specific disease association has been established.
Gain of Function (GOF)
Gain-of-function mutations increase PDE3A activity, leading to decreased cAMP levels, which is associated with hypertension and brachydactyly with hypertension.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PDE3A.
View complete mutation data：
Gene Ontology (GO)
| • 3' | • 5'-cyclic-nucleotide phosphodiesterase activity |
| • cAMP binding | • cGMP binding |
| • metal ion binding | • signal transduction |
Pathways
• cAMP signaling pathway
• cGMP-PKG signaling pathway
• Purine metabolism
Protein Summary
PDE3A is a 125 kDa protein that belongs to the cyclic nucleotide phosphodiesterase family. It contains a catalytic domain that hydrolyzes cAMP and cGMP, with higher affinity for cAMP. The protein is anchored to the membrane via N-terminal hydrophobic regions and is regulated by phosphorylation and interaction with other proteins. PDE3A is a target for drugs like cilostazol and milrinone, used in cardiovascular diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE3A Knockout HEK293 Cell Line | EDJ-KQ1827 | Human | 5139 | Details Get a Quote |
| PDE3A Knockout A-549 Cell Line | EDJ-KQ21678 | Human | 5139 | Details Get a Quote |
| PDE3A Knockout HeLa Cell Line | EDJ-KQ21679 | Human | 5139 | Details Get a Quote |
| PDE3A Knockout HCT 116 Cell Line | EDJ-KQ71059 | Human | 5139 | Details Get a Quote |
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