PDE11A Gene - Phosphodiesterase 11A
Gene encoding a dual-specificity phosphodiesterase involved in cAMP and cGMP signaling
Gene Information Card
| Symbol | PDE11A |
|---|---|
| Full Name | Phosphodiesterase 11A |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q31.2 |
| NCBI Gene ID | 50940 ncbi.nlm.nih.gov/gene/50940 |
| Ensembl ID | ENSG00000128655 |
| UniProt ID | Q9HCR9 |
| OMIM ID | 604961 |
| HGNC ID | 8773 |
| Aliases | PDE11A1, PDE11A2, PDE11A3, PDE11A4 |
Description
PDE11A encodes a member of the cyclic nucleotide phosphodiesterase family that hydrolyzes both cAMP and cGMP. The gene produces multiple splice variants with distinct N-termini and tissue-specific expression. PDE11A is implicated in adrenal steroidogenesis and has been associated with adrenocortical tumors and Cushing syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cushing syndrome (adrenal) | Loss-of-function variants reduce cAMP/cGMP hydrolysis, leading to increased cAMP signaling and adrenal hyperfunction | OMIM #604961, ClinVar |
| Adrenocortical adenoma | Somatic mutations and copy number loss in PDE11A contribute to tumorigenesis via altered cyclic nucleotide signaling | COSMIC, NCBI PubMed |
| Primary pigmented nodular adrenocortical disease (PPNAD) | Germline PDE11A mutations impair phosphodiesterase activity, promoting adrenal hyperplasia | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 8.2 | Medium |
| Adrenal gland | 6.5 | Medium |
| Testis | 5.1 | Low |
| Liver | 2.3 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Embryonic kidney cells |
| HeLa | 3.2 | Cervical cancer cells |
| HepG2 | 2.1 | Hepatocellular carcinoma cells |
| A549 | 1.5 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.148C>T (p.Arg50*) | Nonsense | Rare | Loss of function; truncation of PDE11A |
| c.241G>A (p.Gly81Arg) | Missense | Rare | Reduced catalytic activity |
| c.917T>C (p.Ile306Thr) | Missense | Rare | Impaired cAMP/cGMP hydrolysis |
| c.1336C>T (p.Arg446*) | Nonsense | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce or abolish phosphodiesterase activity, leading to elevated cAMP/cGMP levels.
Gain of Function (GOF)
No gain-of-function mutations reported in PDE11A.
Dominant Negative (DN)
No dominant-negative mutations reported in PDE11A.
View complete mutation data：
Gene Ontology (GO)
| • 3 (GO:0004114) | • 3 (GO:0004115) |
| • 3 (GO:0004119) | • signal transduction (GO:0007165) |
| • cytoplasm (GO:0005737) |
Pathways
• cAMP signaling pathway (Reactome: R-HSA-382556)
• cGMP-PKG signaling pathway (Reactome: R-HSA-418555)
• Cyclic nucleotide metabolism (Reactome: R-HSA-418594)
Protein Summary
PDE11A is a dual-specificity phosphodiesterase that hydrolyzes both cAMP and cGMP, regulating intracellular cyclic nucleotide levels. The protein contains a catalytic domain and two GAF domains that may mediate allosteric regulation. Alternative splicing generates isoforms with different N-terminal regions and tissue distribution. PDE11A is expressed in prostate, adrenal gland, testis, and other tissues, and plays a role in adrenal steroidogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE11A Knockout HEK293 Cell Line | EDJ-KQ10852 | Human | 50940 | Details Get a Quote |
| PDE11A Knockout A-549 Cell Line | EDJ-KQ38515 | Human | 50940 | Details Get a Quote |
| PDE11A Knockout HeLa Cell Line | EDJ-KQ56202 | Human | 50940 | Details Get a Quote |
| PDE11A Knockout HCT 116 Cell Line | EDJ-KQ73139 | Human | 50940 | Details Get a Quote |
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