Identity
HGNC
LOCATION
15q15.1
LOCUSID
ALIAS
CANP3,CANPL3,LGMD2,LGMD2A,LGMDD4,LGMDR1,nCL-1,p94
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 825
MIM: 114240
HGNC: 1480
Ensembl: ENSG00000092529
Variants:
dbSNP: 825
ClinVar: 825
TCGA: ENSG00000092529
COSMIC: CAPN3
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Extracellular matrix organization | REACTOME | R-HSA-1474244 |
| Degradation of the extracellular matrix | REACTOME | R-HSA-1474228 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38299438 | 2024 | The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy. | 0 |
| 38561828 | 2024 | Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1. | 0 |
| 38299438 | 2024 | The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy. | 0 |
| 38561828 | 2024 | Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1. | 0 |
| 37298357 | 2023 | Calpain-3 Is Not a Sodium Dependent Protease and Simply Requires Calcium for Activation. | 0 |
| 37589857 | 2023 | Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene. | 0 |
| 37298357 | 2023 | Calpain-3 Is Not a Sodium Dependent Protease and Simply Requires Calcium for Activation. | 0 |
| 37589857 | 2023 | Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene. | 0 |
| 34697879 | 2022 | A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees. | 0 |
| 35731190 | 2022 | CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related. | 4 |
| 35878425 | 2022 | An 86 amino acids motif in CAPN3 is essential for formation of the nucleolus-localized Def-CAPN3 complex. | 1 |
| 34697879 | 2022 | A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees. | 0 |
| 35731190 | 2022 | CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related. | 4 |
| 35878425 | 2022 | An 86 amino acids motif in CAPN3 is essential for formation of the nucleolus-localized Def-CAPN3 complex. | 1 |
| 32896923 | 2021 | Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families. | 10 |
Citation
Dessen P
CAPN3 (calpain 3)
Atlas Genet Cytogenet Oncol Haematol. 2008-10-01
Online version: http://atlasgeneticsoncology.org/gene/50412/capn3
