CDR2

Chr 16

cerebellar degeneration related protein 2

Also known as: CDR62, Yo

NCBI Gene: 1039ENSG00000140743UniProt: Q01850

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

206
ClinVar variants
69
Pathogenic / LP
0.00
pLI score
2
Active trials
Clinical Summary— CDR2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
69 Pathogenic / Likely Pathogenic· 113 VUS of 206 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.85Z-score
OE missense 0.85 (0.76–0.95)
210 obs / 247.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.65 (0.42–1.03)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.85 (0.76–0.95)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.19
0≤1.21.6
LoF obs/exp: 13 / 20.2Missense obs/exp: 210 / 247.8Syn Z: -1.52

ClinVar Variant Classifications

206 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic54
Likely Pathogenic15
VUS113
Likely Benign9
Benign1
Conflicting4
54
Pathogenic
15
Likely Pathogenic
113
VUS
9
Likely Benign
1
Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
54
0
54
Likely Pathogenic
0
0
15
0
15
VUS
0
67
46
0
113
Likely Benign
0
4
4
1
9
Benign
0
0
1
0
1
Conflicting
—4
Total0711201196

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

View 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.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genome-Wide Analysis of Experimentally Evolved Candida auris Reveals Multiple Novel Mechanisms of Multidrug Resistance.
Carolus H et al.·mBio
2021Functional
Mycologic Endocrinology.
Clemons KV et al.·Adv Exp Med Biol
2016Review
Gamma delta TCR anti-CD3 bispecific molecules (GABs) as novel immunotherapeutic compounds.
van Diest E et al.·J Immunother Cancer
2021
Updated penetrance estimates for recurrent copy number variants - an improved definition and formula.
Goh S et al.·Eur J Hum Genet
2026
CDR2 and CDR2L line blot performance in PCA-1/anti-Yo paraneoplastic autoimmunity.
Vorasoot N et al.·Front Immunol
2023
Non-albicans Candida in Vulvovaginal Candidiasis: Antifungal Resistance and Expression of ERG11, CDR1, CDR2, and MDR1 Genes.
Ranjbar Golafshani FZ et al.·Microbiologyopen
2025
Human TCR as antigen: homologies and potentially cross-reactive HLA-DR2-restricted epitopes within the AV and BV CDR2 loops.
Vandenbark AA et al.·Crit Rev Immunol
2000Review
Antifungal resistance: why are we losing this battle?
Paiva Macedo J et al.·Future Microbiol
2024Review
Multidrug resistance in yeast Candida.
Prasad R et al.·Int Rev Cytol
2005Review
Immunological Bases of Paraneoplastic Cerebellar Degeneration and Therapeutic Implications.
Yshii L et al.·Front Immunol
2020Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Mild Cognitive Impairment (MCI)Mild DementiaAlzheimer&#39;s Disease

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

RECRUITING
NCT07027072Phase PHASE2NeuroBiogen Co., LtdStarted 2025-08-06
KDS2010Placebo
Alzheimer Dementia (AD)

A Genetic Study for Alzheimer Dementia: Case-control Study

NOT YET RECRUITING
NCT06330155MinYoung Kim, MD, PhDStarted 2024-03-26

External Resources

Links to major genomics databases and tools