KANK1
Chr 9KN motif and ankyrin repeat domains 1
Also known as: ANKRD15, CPSQ2, KANK
KANK1 encodes an adapter protein that regulates microtubule and actin cytoskeleton dynamics during cell morphogenesis, organizing complexes at focal adhesions and controlling microtubule-actin crosstalk at the cell edge. Mutations cause cerebral palsy spastic quadriplegic type 2, which involves severe motor impairment affecting all four limbs due to central nervous system developmental abnormalities. The gene shows extremely high constraint against loss-of-function variants (pLI approaching 1), indicating that complete loss of protein function is not well tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
300 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 | 3 | 0 | 3 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 9 | 177 | 19 | 3 | 208 |
Likely Benign | 0 | 11 | 19 | 50 | 80 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 5 | |||
| Total | 9 | 188 | 45 | 53 | 300 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KANK1 · 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