CDR2

Chr 16

cerebellar degeneration related protein 2

Also known as: CDR62, Yo

NCBI Gene: 1039ENSG00000140743UniProt: Q01850OMIM: 117340

Predicted to act upstream of or within T cell anergy and alpha-beta T cell activation involved in immune response. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
2
Active trials
57
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.03
LOEUF
DN
Mechanism· predicted

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

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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