PDE4C: Phosphodiesterase 4C
cAMP-specific 3',5'-cyclic phosphodiesterase 4C
Gene Information Card
| Symbol | PDE4C |
|---|---|
| Full Name | Phosphodiesterase 4C |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 5143 ncbi.nlm.nih.gov/gene/5143 |
| Ensembl ID | ENSG00000105647 |
| UniProt ID | Q08499 |
| OMIM ID | 600129 |
| HGNC ID | 8783 |
| Aliases | DPDE1, PDE4C1, PDE4C2 |
Description
PDE4C encodes a member of the type IV cyclic nucleotide phosphodiesterase (PDE4) family, which specifically hydrolyzes cyclic AMP (cAMP) to AMP, thereby regulating intracellular cAMP levels. PDE4C is predominantly expressed in the brain and testis and plays a role in signal transduction pathways involving G-protein-coupled receptors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Major depressive disorder | Altered cAMP signaling due to PDE4C dysregulation may affect mood regulation | PMID: 20300120 |
| Schizophrenia | Genetic association studies implicate PDE4C variants in susceptibility | PMID: 17903296 |
| Asthma | PDE4C expression in airway smooth muscle modulates bronchoconstriction | PMID: 15659360 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 2.1 | Low |
| Heart | 1.4 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 4.8 | Embryonic kidney cells |
| A549 | 2.3 | Lung carcinoma cells |
| HepG2 | 0.5 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Trp) | Missense | 0.01% | Reduced catalytic activity |
| c.1573G>A (p.Gly525Arg) | Missense | 0.005% | Unknown functional impact |
| c.1891delC (p.Leu631TrpfsTer12) | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the catalytic domain reduce or abolish cAMP hydrolysis.
Gain of Function (GOF)
Not reported for PDE4C.
Dominant Negative (DN)
Not documented for PDE4C.
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)
• PDE4 regulation of cAMP levels (KEGG: hsa04024)
Protein Summary
PDE4C is a 712-amino acid protein containing a catalytic domain and two upstream conserved regions (UCR1 and UCR2) that regulate dimerization and activity. It specifically hydrolyzes cAMP and is inhibited by rolipram. The protein is expressed in brain regions such as the hippocampus and cortex, and in testis. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE4C Knockout HEK293 Cell Line | EDJ-KQ1830 | Human | 5143 | Details Get a Quote |
| PDE4C Knockout HeLa Cell Line | EDJ-KQ54100 | Human | 5143 | Details Get a Quote |
| PDE4C Knockout A-549 Cell Line | EDJ-KQ62589 | Human | 5143 | Details Get a Quote |
| PDE4C Knockout HCT 116 Cell Line | EDJ-KQ71060 | Human | 5143 | Details Get a Quote |
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