CDR2
Chr 16cerebellar degeneration related protein 2
Also known as: CDR62, Yo
CDR2 encodes a cytoplasmic protein whose normal function is not well characterized. Mutations cause cerebellar degeneration-related protein 2-associated cerebellar ataxia, a neurodegenerative disorder affecting the cerebellum. The gene shows no intolerance to loss-of-function variants (pLI near 0), and inheritance pattern information is not available from the provided data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CDR2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Study to Evaluate the Efficacy and Safety of KDS2010 in Patients With Alzheimer's Disease With Mild Cognitive Impairment and Mild Dementia Due to Alzheimer's Disease
RECRUITINGA Genetic Study for Alzheimer Dementia: Case-control Study
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools