CCNE2
Chr 8cyclin E2
Also known as: CYCE2
Cyclin E2 functions as a regulatory subunit of CDK2 kinase and is essential for cell cycle control at the late G1 and early S phase transition. Mutations cause autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, characterized by brain malformations and developmental anomalies typically apparent in early infancy. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant clinical consequences.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
88 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 | 37 | 0 | 37 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 35 | 2 | 0 | 37 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 37 | 41 | 0 | 78 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CCNE2 · 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