CDCA3
Chr 12cell division cycle associated 3
Also known as: GRCC8, TOME-1, TOME1
CDCA3 encodes an F-box-like protein required for mitotic entry that participates in E3 ligase complexes mediating ubiquitination and degradation of WEE1 kinase during the G2/M phase of cell division. Mutations cause autosomal recessive primary microcephaly with growth retardation and intellectual disability. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.504), consistent with its essential role in cell cycle regulation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
209 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 43 | 0 | 44 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 4 | 91 | 16 | 0 | 111 |
Likely Benign | 0 | 6 | 9 | 14 | 29 |
Benign | 0 | 1 | 7 | 5 | 13 |
Conflicting | — | 1 | |||
| Total | 4 | 99 | 77 | 19 | 200 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CDCA3 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools