CDC16
Chr 13cell division cycle 16
Also known as: ANAPC6, APC6, CDC16Hs, CUT9
CDC16 encodes a component of the anaphase promoting complex/cyclosome (APC/C), an E3 ubiquitin ligase that controls cell cycle progression through mitosis and G1 phase by targeting proteins for degradation. Mutations cause autosomal recessive primary microcephaly with seizures and intellectual disability, typically presenting in infancy. The gene is highly constrained against loss-of-function variants (LOEUF 0.379), reflecting its essential role in cell division.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
246 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 | 115 | 0 | 115 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 71 | 17 | 0 | 88 |
Likely Benign | 0 | 2 | 4 | 1 | 7 |
Benign | 0 | 0 | 2 | 1 | 3 |
| Total | 0 | 73 | 141 | 2 | 216 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CDC16 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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