CROCC2

Chr 2

ciliary rootlet coiled-coil, rootletin family member 2

NCBI Gene: 728763ENSG00000226321UniProt: H7BZ55OMIM: 621300

Predicted to be active in centriole and centrosome. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.84
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.84LOEUF
pLI 0.000
Z-score 2.45
OE 0.61 (0.45–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.76Z-score
OE missense 0.91 (0.84–0.98)
485 obs / 534.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.45–0.84)
0≤0.351.4
Missense OE?0.91 (0.84–0.98)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 28 / 45.9Missense obs/exp: 485 / 534.5Syn Z: 0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CROCC2 · 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