CASKIN2
Chr 17CASK interacting protein 2
Also known as: ANKS5B
The protein contains six ankyrin repeats, an SH3 domain, and two SAM domains that mediate protein-protein interactions, and interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Loss-of-function mutations cause autosomal dominant neurodevelopmental disorders due to haploinsufficiency. The gene is highly intolerant to loss-of-function variation, indicating that reduced protein dosage disrupts normal neurological function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
296 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 | 12 | 0 | 12 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 249 | 8 | 0 | 257 |
Likely Benign | 0 | 3 | 1 | 0 | 4 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 252 | 23 | 0 | 275 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CASKIN2 · 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