CDR2

Chr 16

cerebellar degeneration related protein 2

Also known as: CDR62, Yo

NCBI Gene: 1039ENSG00000140743UniProt: Q01850OMIM: 117340

Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviewsOMIMResearchGenerating clinical summary…
DNmechanismLOEUF 1.03
Clinical Summary— CDR2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
67 VUS of 78 total submissions
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
📖
GeneReview available — CDR2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.03LOEUF
pLI 0.000
Z-score 1.48
OE 0.65 (0.42–1.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.85Z-score
OE missense 0.85 (0.76–0.95)
210 obs / 247.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.42–1.03)
0≤0.351.4
Missense OE?0.85 (0.76–0.95)
0≤0.61.4
Synonymous OE?1.19
0≤1.21.6
LoF obs/exp: 13 / 20.2Missense obs/exp: 210 / 247.8Syn Z: -1.52

This gene — mechanism propensity

DN
0.7327th %ile
GOF
0.6151th %ile
LOF
0.3549th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

78 submitted variants in ClinVar

ClinVar

Classification Summary

VUS67
Likely Benign5
67
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
67
0
0
67
Likely Benign
0
4
0
1
5
Benign
0
0
0
0
0
Total0710172

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

70 pathogenic / likely-pathogenic (of 129) ClinVar copy-number / structural variants overlap CDR2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

CDR2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients