CAPN10
Chr 2calpain 10
Also known as: CANP10, NIDDM1
CAPN10 encodes calpain-10, a calcium-regulated cysteine protease that catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction, and may play a role in insulin-stimulated glucose uptake. Mutations cause noninsulin-dependent diabetes mellitus type 1, which typically has adult onset and involves metabolic dysfunction. This gene shows no constraint against loss-of-function variants in the general population.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
305 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 | 3 | 0 | 92 | 0 | 95 |
Likely Pathogenic | 0 | 0 | 9 | 0 | 9 |
VUS | 1 | 120 | 12 | 2 | 135 |
Likely Benign | 0 | 14 | 1 | 15 | 30 |
Benign | 0 | 7 | 2 | 5 | 14 |
| Total | 4 | 141 | 116 | 22 | 283 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CAPN10 · 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