CBLN2

Chr 18

cerebellin 2 precursor

NCBI Gene: 147381ENSG00000141668UniProt: Q8IUK8

Predicted to be involved in maintenance of synapse structure and spontaneous synaptic transmission. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in synaptic cleft. Predicted to be part of trans-synaptic protein complex. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.17
LOEUF
Multiple*
Mechanism· predicted
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?
1.17LOEUF
pLI 0.122
Z-score 1.35
OE 0.37 (0.15–1.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.87Z-score
OE missense 0.52 (0.42–0.64)
62 obs / 119.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.15–1.17)
0≤0.351.4
Missense OE?0.52 (0.42–0.64)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 2 / 5.4Missense obs/exp: 62 / 119.4Syn Z: -0.78

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CBLN2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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