AlphaFold predicted structure
PDE10A · Q9Y233
Mean pLDDT
69.4/ 100
Low
1,055 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)28%
- Low(50–70)7%
- Very low(< 50)31%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PDE10A
Chr 6q27phosphodiesterase 10A
- MANE:
- ENST00000539869.4
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownParoxysmal central nervous system disorders
BIALLELIC, autosomal or pseudoautosomalStructural basal ganglia disorders
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
BIALLELIC, autosomal or pseudoautosomalAdult onset dystonia, chorea or related movement disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disease associations (Open Targets)
infantile-onset generalized dyskinesia with orofacial involvement
0.75striatal degeneration, autosomal dominant 2
0.69coronary artery disorder
0.54stroke disorder
0.54hypothyroidism
0.53cardiovascular disorder
0.52thyroid gland disorder
0.50hyperthyroidism
0.49Autosomal dominant striatal neurodegeneration
0.48striatal degeneration, autosomal dominant
0.46
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A
Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides (PubMed:10373451, PubMed:10393245, PubMed:16330539, PubMed:17389385, PubMed:27058447). Can hydrolyze both cAMP and cGMP, but has higher affinity for cAMP and is more efficient with cAMP as substrate (PubMed:10373451, PubMed:10393245, PubMed:17389385, PubMed:27058447). May play a critical role in regulating cAMP and cGMP levels in the striatum, a region of the brain that contributes to the control of movement and cognition (PubMed:27058447)
Diseases associated with PDE10A
Curated MONDO disease pages that list PDE10A among their top associated genes.