PDE7A Gene: Phosphodiesterase 7A
A key regulator of cAMP signaling with roles in immune function and neurological disorders
Gene Information Card
| Symbol | PDE7A |
|---|---|
| Full Name | Phosphodiesterase 7A |
| Gene Type | Protein coding |
| Chromosomal Location | 8q13.1 |
| NCBI Gene ID | 5150 ncbi.nlm.nih.gov/gene/5150 |
| Ensembl ID | ENSG00000105452 |
| UniProt ID | Q13946 |
| OMIM ID | 171885 |
| HGNC ID | 8790 |
| Aliases | HCP1, PDE7, FLJ32120 |
Description
PDE7A encodes a member of the cyclic nucleotide phosphodiesterase (PDE) family, specifically a cAMP-specific phosphodiesterase. This enzyme hydrolyzes the second messenger cAMP to AMP, thereby regulating intracellular cAMP levels and downstream signaling pathways. PDE7A is highly expressed in immune cells, skeletal muscle, and the brain, and is implicated in T-cell activation, inflammation, and neurological processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | PDE7A modulates cAMP levels in airway smooth muscle and immune cells, influencing bronchoconstriction and inflammation. | NCBI Gene, UniProt |
| Rheumatoid Arthritis | PDE7A expression is elevated in synovial tissue; inhibition reduces pro-inflammatory cytokine production. | NCBI Gene, UniProt |
| Multiple Sclerosis | PDE7A is upregulated in activated T-cells; selective inhibitors show potential in reducing neuroinflammation. | NCBI Gene, UniProt |
| Parkinson's Disease | PDE7A is expressed in striatal neurons; altered cAMP signaling contributes to motor dysfunction. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 11.2 | Medium |
| Brain | 8.5 | Medium |
| Lung | 6.3 | Medium |
| Spleen | 5.1 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.7 | High expression in kidney-derived cells |
| Jurkat | 7.2 | T-cell line; relevant for immune studies |
| SH-SY5Y | 6.8 | Neuroblastoma; used in neurological research |
| A549 | 5.4 | Lung carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124G>A (p.Gly42Arg) | Missense | <0.01% | Altered catalytic activity; potential loss of function |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Reduced cAMP hydrolysis; associated with immune dysregulation |
| c.1021_1023del (p.Phe341del) | In-frame deletion | <0.01% | Disrupted protein stability; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that reduce or abolish cAMP hydrolytic activity, leading to elevated intracellular cAMP.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PDE7A.
Dominant Negative (DN)
No evidence of dominant-negative effects for PDE7A mutations.
View complete mutation data：
Gene Ontology (GO)
| • 3' | • 5'-cyclic-AMP phosphodiesterase activity |
| • cAMP binding | • metal ion binding |
| • signal transduction | • negative regulation of cAMP-mediated signaling |
| • inflammatory response |
Pathways
• cAMP signaling pathway
• Purine metabolism
• T-cell receptor signaling pathway
• Neuroactive ligand-receptor interaction
Protein Summary
PDE7A is a 482-amino acid protein (UniProt Q13946) that belongs to the PDE7 family. It contains a catalytic domain responsible for cAMP hydrolysis and is localized primarily in the cytoplasm. The enzyme plays a critical role in modulating cAMP-dependent signaling in immune cells and neurons. Alternative splicing generates multiple isoforms with distinct tissue distributions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE7A Knockout HEK293 Cell Line | EDJ-KQ5433 | Human | 5150 | Details Get a Quote |
| PDE7A Knockout HCT 116 Cell Line | EDJ-KQ27359 | Human | 5150 | Details Get a Quote |
| PDE7A Knockout A-549 Cell Line | EDJ-KQ28606 | Human | 5150 | Details Get a Quote |
| PDE7A Knockout HeLa Cell Line | EDJ-KQ28608 | Human | 5150 | Details Get a Quote |
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