Gene table of CAPN3 : calpain 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with CAPN3OMIM linkNumber of associated genesgenes
PS253600MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVEClinVar, OMIM, HUMSAVAR link to OMIM 24SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC

Download the gene annotation in CSV format

Annotation of the gene CAPN3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
endopeptidase activityGO:00041753.63
protein complex scaffoldGO:00329475.5
signal transducer activityGO:00048712.28
peptidase activityGO:00082333.23
molecular function regulatorGO:00987722.51
ligase regulator activityGO:00551037.1
titin bindingGO:00314327.25
ion bindingGO:00431671.36
peptidase activity, acting on L-amino acid peptidesGO:00700113.26
calcium ion bindingGO:00055093.17
metal ion bindingGO:00468721.41
hydrolase activityGO:00167871.9
structural molecule activityGO:00051983.1
cation bindingGO:00431691.4
enzyme regulator activityGO:00302342.85
catalytic activityGO:00038241.05
structural constituent of muscleGO:00083076.02
cysteine-type peptidase activityGO:00082344.51
cytoskeletal protein bindingGO:00080923.02
sodium ion bindingGO:00314027.1
alkali metal ion bindingGO:00314206.69
cysteine-type endopeptidase activityGO:00041975.28
protein bindingGO:00055150.46
calcium-dependent cysteine-type endopeptidase activityGO:00041986.69
bindingGO:00054880.18