CKAP2
Chr 13cytoskeleton associated protein 2
Also known as: LB1, TMAP, se20-10
This gene encodes a cytoskeleton-associated protein that stabilizes microtubules and regulates cell division, cell cycling, and cell death in a p53-dependent manner. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, developmental delay, and seizures. The gene is extremely intolerant to loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
171 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 | 56 | 0 | 56 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 85 | 10 | 0 | 95 |
Likely Benign | 0 | 9 | 0 | 0 | 9 |
Benign | 0 | 3 | 1 | 1 | 5 |
| Total | 0 | 97 | 69 | 1 | 167 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CKAP2 · 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