CC2D2B

Chr 10

coiled-coil and C2 domain containing 2B

Also known as: C10orf130, C10orf131

NCBI Gene: 387707ENSG00000188649UniProt: Q6DHV5

Predicted to be involved in non-motile cilium assembly and protein localization to ciliary transition zone. Predicted to be active in ciliary transition zone. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.97
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.000
Z-score 1.69
OE 0.63 (0.42–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.29Z-score
OE missense 0.74 (0.65–0.85)
147 obs / 197.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.42–0.97)
0≤0.351.4
Missense OE?0.74 (0.65–0.85)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 15 / 23.9Missense obs/exp: 147 / 197.9Syn Z: 1.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CC2D2B · 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