CDCA2
Chr 8cell division cycle associated 2
Also known as: PPP1R81, Repo-Man
The protein regulates chromosome structure during mitosis by recruiting protein phosphatase 1-gamma to chromatin, enabling chromosomes to maintain their compact architecture through anaphase and supporting nuclear envelope reformation. Mutations cause severe developmental delay, microcephaly, growth retardation, and limb malformations with autosomal recessive inheritance. This gene shows minimal constraint against loss-of-function variation based on population genetics data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
267 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 | 0 | 77 | 0 | 77 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 133 | 6 | 0 | 139 |
Likely Benign | 0 | 13 | 1 | 2 | 16 |
Benign | 0 | 2 | 0 | 2 | 4 |
| Total | 0 | 148 | 88 | 4 | 240 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CDCA2 · 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