PDE8A Gene: Phosphodiesterase 8A and Its Role in cAMP Signaling
Explore the PDE8A gene, its protein product, expression patterns, associated diseases, and mutations.
Gene Information Card
| Symbol | PDE8A |
|---|---|
| Full Name | Phosphodiesterase 8A |
| Gene Type | Protein coding |
| Chromosomal Location | 15q25.3 |
| NCBI Gene ID | 5151 ncbi.nlm.nih.gov/gene/5151 |
| Ensembl ID | ENSG00000073417 |
| UniProt ID | O60658 |
| OMIM ID | 602972 |
| HGNC ID | 8786 |
| Aliases | FLJ13993, MGC12815 |
Description
PDE8A encodes phosphodiesterase 8A, an enzyme that hydrolyzes cyclic adenosine monophosphate (cAMP), a key second messenger in cellular signaling. PDE8A is highly sensitive to cAMP and is involved in regulating various physiological processes, including T-cell activation, steroidogenesis, and insulin secretion. The gene is expressed in multiple tissues, with highest levels in the testis, and its dysregulation has been implicated in several diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acrodysostosis | PDE8A mutations may lead to altered cAMP levels, affecting skeletal development. | ClinVar |
| Hypertension | PDE8A variants may influence blood pressure regulation via cAMP signaling in vascular tissues. | ClinVar |
| Cancer | Altered PDE8A expression may affect cell proliferation and apoptosis through cAMP modulation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 24.1 | High |
| Adrenal gland | 12.3 | Medium |
| Thyroid | 10.5 | Medium |
| Liver | 8.2 | Low |
| Brain | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| A549 | 9.8 | Moderate expression |
| MCF7 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% | May alter enzyme activity |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% | Potential loss of function |
| c.789del (p.Val264fs) | Frameshift | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish PDE8A enzymatic activity, leading to elevated cAMP levels.
Gain of Function (GOF)
Mutations that increase PDE8A activity, potentially reducing cAMP levels and affecting signaling.
Dominant Negative (DN)
Mutations that produce a defective PDE8A protein that interferes with normal enzyme function.
View complete mutation data：
Gene Ontology (GO)
| • 3' | • 5'-cyclic-AMP phosphodiesterase activity |
| • cAMP binding | • metal ion binding |
| • signal transduction | • regulation of cAMP-mediated signaling |
Pathways
• cAMP signaling pathway
• G protein-coupled receptor signaling pathway
• Regulation of insulin secretion
Protein Summary
PDE8A is a 100 kDa protein that specifically hydrolyzes cAMP with high affinity. It contains a GAF domain that may bind cGMP, but its primary function is cAMP degradation. PDE8A is insensitive to the commonly used PDE inhibitor IBMX, making it a unique target for therapeutic intervention. The protein is localized in the cytoplasm and may be involved in regulating local cAMP gradients.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE8A Knockout HEK293 Cell Line | EDJ-KQ5431 | Human | 5151 | Details Get a Quote |
| PDE8A Knockout A-549 Cell Line | EDJ-KQ28601 | Human | 5151 | Details Get a Quote |
| PDE8A Knockout HCT 116 Cell Line | EDJ-KQ28602 | Human | 5151 | Details Get a Quote |
| PDE8A Knockout HeLa Cell Line | EDJ-KQ28603 | Human | 5151 | Details Get a Quote |
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