CCDC3

Chr 10

coiled-coil domain containing 3

NCBI Gene: 83643ENSG00000151468UniProt: Q9BQI4OMIM: 620579

Involved in negative regulation of lipid metabolic process; negative regulation of tumor necrosis factor-mediated signaling pathway; and signal transduction. Located in endoplasmic reticulum and extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.09
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.09LOEUF
pLI 0.005
Z-score 1.39
OE 0.52 (0.27–1.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.85Z-score
OE missense 1.20 (1.06–1.36)
175 obs / 146.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.52 (0.27–1.09)
0≤0.351.4
Missense OE?1.20 (1.06–1.36)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 5 / 9.7Missense obs/exp: 175 / 146.1Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCDC3 · 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