SCA12_PPP2R2B
- Gene
- PPP2R2B
- Disease
- SCA12
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 13
- Publications Reviewed
- 5
- Publication Span
- 24.5 years
- Last Updated
- 8/11/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.
Genetic evidence
Total: 7
| Singular Evidence | Probands | PMID:34711523 | 6 | |||
| Collective Evidence | Allele | PMID:38467784 | 1 |
2 rows
Experimental evidence
Total: 6
| Function | Biochemical function | PMID:10581021 | 0.5 | |||
| Function | Protein interaction | PMID:10581021 | 0.5 | |||
| Function | Regulatory Impact | PMID:10581021 | 0.5 | |||
| Function | Regulatory Impact | PMID:11198281 | 0.5 | Epigenetic change | ||
| Function | Regulatory Impact | PMID:11198281 | 0.5 | splicing | ||
| Functional Alteration | Patient cells | PMID:37906407 | 1 | |||
| Functional Alteration | Non-patient cells | PMID:37906407 | 0.5 | |||
| Models | Non-human model organism | PMID:37906407 | 2 |
8 rows