PDE10A: Phosphodiesterase 10A
A dual-substrate phosphodiesterase implicated in striatal signaling and neuropsychiatric disorders
Gene Information Card
| Symbol | PDE10A |
|---|---|
| Full Name | Phosphodiesterase 10A |
| Gene Type | protein-coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 10846 ncbi.nlm.nih.gov/gene/10846 |
| Ensembl ID | ENSG00000112541 |
| UniProt ID | Q9Y233 |
| OMIM ID | 610652 |
| HGNC ID | 8772 |
| Aliases | PDE10A1, PDE10A2, HSPDE10A |
Description
PDE10A encodes a dual-specificity phosphodiesterase that hydrolyzes both cAMP and cGMP. It is highly expressed in the striatum and plays a critical role in dopaminergic signaling. Mutations and altered expression are linked to Huntington disease, schizophrenia, and other neuropsychiatric conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington disease | Reduced PDE10A expression in striatal medium spiny neurons contributes to cAMP/cGMP dysregulation | PMID: 17053058 |
| Schizophrenia | Genetic variants and altered PDE10A activity affect striatal dopamine signaling | PMID: 21743477 |
| Tourette syndrome | Rare variants in PDE10A may disrupt striatal signaling | PMID: 25653309 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain - caudate nucleus | 42.8 | High |
| Brain - putamen | 38.5 | High |
| Brain - nucleus accumbens | 35.2 | High |
| Testis | 6.3 | Low |
| Thyroid | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.4 | Neuroblastoma cell line |
| HEK293 | 0.8 | Low expression |
| HepG2 | 0.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334Trp) | Missense | Rare | Reduced catalytic activity |
| c.1456G>A (p.Gly486Arg) | Missense | Rare | Altered substrate specificity |
| c.1681C>T (p.Arg561Trp) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg334Trp, p.Arg561Trp) reduce cAMP/cGMP hydrolysis
Gain of Function (GOF)
Not reported in literature
Dominant Negative (DN)
Not reported in literature
View complete mutation data：
Gene Ontology (GO)
| • GO:0004114 - 3' | • 5'-cyclic-nucleotide phosphodiesterase activity |
| • GO:0004115 - 3' | • 5'-cyclic-AMP phosphodiesterase activity |
| • GO:0004119 - 3' | • 5'-cyclic-GMP phosphodiesterase activity |
| • GO:0007165 - signal transduction | • GO:0005737 - cytoplasm |
Pathways
• cAMP signaling pathway (Reactome: R-HSA-163615)
• cGMP-PKG signaling pathway (Reactome: R-HSA-418594)
• Dopamine receptor signaling (KEGG: hsa04728)
Protein Summary
PDE10A is a 779-amino acid protein with a GAF domain and a catalytic domain. It hydrolyzes cAMP and cGMP, regulating intracellular cyclic nucleotide levels. Highly expressed in striatal medium spiny neurons, it modulates dopamine and glutamate signaling. Inhibitors are under investigation for schizophrenia and Huntington disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE10A Knockout HEK293 Cell Line | EDJ-KQ1832 | Human | 10846 | Details Get a Quote |
| PDE10A Knockout HeLa Cell Line | EDJ-KQ20374 | Human | 10846 | Details Get a Quote |
| PDE10A Knockout A-549 Cell Line | EDJ-KQ21688 | Human | 10846 | Details Get a Quote |
| PDE10A Knockout HCT 116 Cell Line | EDJ-KQ72439 | Human | 10846 | Details Get a Quote |
| PDE10A Knockout HAP1 Cell Line | EDC08090 | Human | 10846 | Details Get a Quote |
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