PDE7B: Phosphodiesterase 7B
A cAMP-specific phosphodiesterase involved in neurological and immune function
Gene Information Card
| Symbol | PDE7B |
|---|---|
| Full Name | phosphodiesterase 7B |
| Gene Type | protein-coding |
| Chromosomal Location | 6q23.3 |
| NCBI Gene ID | 27115 ncbi.nlm.nih.gov/gene/27115 |
| Ensembl ID | ENSG00000112562 |
| UniProt ID | Q9NP56 |
| OMIM ID | 604645 |
| HGNC ID | 8794 |
| Aliases | PDE7B1, PDE7B2, PDE7B3, HCP1 |
Description
PDE7B (phosphodiesterase 7B) encodes a member of the cyclic nucleotide phosphodiesterase family that specifically hydrolyzes cAMP. The enzyme plays a role in regulating intracellular cAMP levels, impacting signaling pathways in the brain, immune cells, and other tissues. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Altered cAMP signaling in neurons | Association studies (PMID: 17666407) |
| Major depressive disorder | Dysregulation of cAMP-PKA pathway | Genetic association (PMID: 20631164) |
| Asthma | cAMP modulation in airway smooth muscle | Expression studies (PMID: 15689494) |
| Rheumatoid arthritis | cAMP-mediated immune response | Expression in synovial tissue (PMID: 17913836) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Lung | 4.1 | Low |
| Spleen | 3.8 | Low |
| Heart | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.3 | Neuroblastoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| Jurkat | 5.4 | T-cell leukemia line |
| A549 | 4.1 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1045738 | SNP | 0.45 (global) | Intronic; potential splicing effect |
| rs3730071 | SNP | 0.12 (global) | Missense (Val->Ile); unknown functional impact |
| c.1123C>T | SNV | Rare | Nonsense; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the catalytic domain reduce cAMP hydrolysis.
Gain of Function (GOF)
Not well characterized; some missense variants may increase enzyme activity.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • 3 (GO:0004114) | • cAMP catabolic process (GO:0006198) |
| • signal transduction (GO:0007165) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) |
Pathways
• cAMP signaling pathway (Reactome: R-HSA-163615)
• G alpha (s) signalling events (Reactome: R-HSA-388396)
Protein Summary
PDE7B is a 450-amino acid protein that specifically hydrolyzes cAMP to AMP, thereby terminating cAMP-dependent signaling. It contains a conserved catalytic domain and is expressed in multiple isoforms. The enzyme is implicated in neuronal plasticity, immune cell activation, and smooth muscle relaxation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE7B Knockout HEK293 Cell Line | EDJ-KQ7947 | Human | 27115 | Details Get a Quote |
| PDE7B Knockout A-549 Cell Line | EDJ-KQ34885 | Human | 27115 | Details Get a Quote |
| PDE7B Knockout HeLa Cell Line | EDJ-KQ34887 | Human | 27115 | Details Get a Quote |
| PDE7B Knockout HCT 116 Cell Line | EDJ-KQ72948 | Human | 27115 | Details Get a Quote |
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