CAPN3

Chr 15q15.1

calpain 3

Aliases:: CANP3, p94, nCL-1
MANE:: ENST00000397163.8

OMIM: 114240 ↗NCBI: 825 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CAPN3 · P20807

v62025-08-01

Predicted Aligned Error matrix for CAPN3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.3/ 100

Confident

821 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)33%
Low(50–70)6%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis

Disease associations (Open Targets)

autosomal recessive limb-girdle muscular dystrophy type 2A
0.83
muscular dystrophy, limb-girdle, autosomal dominant 4
0.75
autosomal recessive limb-girdle muscular dystrophy
0.68
Abnormality of the musculature
0.54
muscular dystrophy
0.50
Muscle weakness
0.48
hereditary disease
0.47
Shoulder girdle muscle weakness
0.46
limb-girdle muscular dystrophy
0.45
cardiac arrhythmia
0.43

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Calpain-3

Calcium-regulated non-lysosomal thiol-protease. Proteolytically cleaves CTBP1 at 'His-409'. Mediates, with UTP25, the proteasome-independent degradation of p53/TP53 (PubMed:23357851, PubMed:27657329)