PDE5A Gene: Phosphodiesterase 5A
Gene encoding cGMP-specific phosphodiesterase type 5, a key regulator of smooth muscle relaxation and target for erectile dysfunction and pulmonary hypertension therapies.
Gene Information Card
| Symbol | PDE5A |
|---|---|
| Full Name | Phosphodiesterase 5A |
| Gene Type | Protein coding |
| Chromosomal Location | 4q26 |
| NCBI Gene ID | 8654 ncbi.nlm.nih.gov/gene/8654 |
| Ensembl ID | ENSG00000138735 |
| UniProt ID | O76074 |
| OMIM ID | 603310 |
| HGNC ID | 8784 |
| Aliases | PDE5, cGMP-binding cGMP-specific phosphodiesterase |
Description
The PDE5A gene encodes phosphodiesterase 5A, a cGMP-specific phosphodiesterase that hydrolyzes cyclic guanosine monophosphate (cGMP). It is a key regulator of smooth muscle contraction in the corpus cavernosum and pulmonary vasculature. PDE5A is the molecular target of PDE5 inhibitors such as sildenafil and tadalafil, used to treat erectile dysfunction and pulmonary arterial hypertension.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Erectile Dysfunction | Reduced cGMP degradation in corpus cavernosum smooth muscle leads to vasodilation and penile erection; PDE5 inhibitors block PDE5A activity. | ClinVar, NCBI |
| Pulmonary Arterial Hypertension | PDE5A overexpression in pulmonary vascular smooth muscle contributes to vasoconstriction; PDE5 inhibitors improve hemodynamics. | ClinVar, NCBI |
| Benign Prostatic Hyperplasia | PDE5A expression in prostate and lower urinary tract; PDE5 inhibitors improve urinary symptoms. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth Muscle | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Prostate | 6.7 | Low |
| Corpus Cavernosum | 15.2 | High |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 9.8 | Adenocarcinoma cell line |
| HUVEC (Endothelial) | 7.2 | Umbilical vein endothelial cells |
| HEK293 | 5.5 | Embryonic kidney cells |
| PC3 (Prostate) | 6.1 | Prostate cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.142A>G (p.Ile48Val) | Missense | 0.01% | Reduced catalytic activity in vitro |
| c.1003C>T (p.Arg335Trp) | Missense | 0.005% | Altered cGMP binding affinity |
| c.1684G>A (p.Glu562Lys) | Missense | 0.002% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Ile48Val reduce cGMP hydrolysis, potentially impairing smooth muscle relaxation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PDE5A.
Dominant Negative (DN)
No dominant-negative mutations described for PDE5A.
View complete mutation data：
Gene Ontology (GO)
| • 3 (GO:0004114) | • 3 (GO:0004115) |
| • signal transduction (GO:0007165) | • plasma membrane (GO:0005886) |
| • cytoplasm (GO:0005737) |
Pathways
• cGMP-PKG signaling pathway
• Nitric oxide signaling pathway
• Smooth muscle contraction
Protein Summary
PDE5A is a 875-amino acid protein with a catalytic domain and two cGMP-binding allosteric sites. It specifically hydrolyzes cGMP, regulating intracellular cGMP levels and downstream signaling via protein kinase G (PKG). The protein is highly expressed in smooth muscle tissues, particularly corpus cavernosum and pulmonary vasculature. PDE5A is the primary target of sildenafil, tadalafil, and vardenafil, which competitively inhibit cGMP binding and prolong vasodilation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE5A Knockout HEK293 Cell Line | EDJ-KQ1852 | Human | 8654 | Details Get a Quote |
| PDE5A Knockout HCT 116 Cell Line | EDJ-KQ20410 | Human | 8654 | Details Get a Quote |
| PDE5A Knockout A-549 Cell Line | EDJ-KQ21718 | Human | 8654 | Details Get a Quote |
| PDE5A Knockout HeLa Cell Line | EDJ-KQ21720 | Human | 8654 | Details Get a Quote |
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