CDK5RAP2
Chr 9ARCDK5 regulatory subunit associated protein 2
Also known as: C48, Cep215, MCPH3
The protein regulates CDK5 activity and localizes to the centrosome where it functions in centriole engagement and microtubule nucleation. Mutations cause primary microcephaly 3, an autosomal recessive disorder characterized by reduced brain size. The pathogenic mechanism involves dominant-negative effects that disrupt normal centrosome function and microtubule organization.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
500 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 | 21 | 0 | 3 | 0 | 24 |
Likely Pathogenic | 11 | 1 | 0 | 0 | 12 |
VUS | 3 | 220 | 4 | 1 | 228 |
Likely Benign | 0 | 17 | 71 | 92 | 180 |
Benign | 0 | 1 | 4 | 0 | 5 |
Conflicting | — | 4 | |||
| Total | 35 | 239 | 82 | 93 | 453 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CDK5RAP2 · 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