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Aliases for CAPN3 Gene

Aliases for CAPN3 Gene

  • Calpain 3 2 3 5
  • New Calpain 1 3 4
  • EC 3.4.22.54 4 63
  • CANPL3 3 4
  • CANP3 3 4
  • NCL-1 3 4
  • Muscle-Specific Calcium-Activated Neutral Protease 3 Large Subunit 3
  • Muscle-Specific Calcium-Activated Neutral Protease 3 4
  • Calpain P94, Large [Catalytic] Subunit 3
  • Calcium-Activated Neutral Proteinase 3 4
  • Calpain, Large Polypeptide L3 3
  • Calpain 3, (P94) 3
  • Calpain P94 4
  • Calpain L3 4
  • EC 3.4.22 63
  • LGMD2A 3
  • CANP 3 4
  • LGMD2 3
  • NCL1 4
  • P94 3

External Ids for CAPN3 Gene

Previous HGNC Symbols for CAPN3 Gene

  • LGMD2
  • LGMD2A

Previous GeneCards Identifiers for CAPN3 Gene

  • GC15P038019
  • GC15P035547
  • GC15P040144
  • GC15P040367
  • GC15P040283
  • GC15P040353
  • GC15P040427
  • GC15P042640
  • GC15P019488

Summaries for CAPN3 Gene

Entrez Gene Summary for CAPN3 Gene

  • Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]

GeneCards Summary for CAPN3 Gene

CAPN3 (Calpain 3) is a Protein Coding gene. Diseases associated with CAPN3 include muscular dystrophy, limb-girdle, type 2a and autosomal recessive limb-girdle muscular dystrophy type 2a. Among its related pathways are Degradation of the extracellular matrix and Integrin Pathway. GO annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is CAPN9.

UniProtKB/Swiss-Prot for CAPN3 Gene

  • Calcium-regulated non-lysosomal thiol-protease.

Tocris Summary for CAPN3 Gene

  • Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure.

Gene Wiki entry for CAPN3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPN3 Gene

Genomics for CAPN3 Gene

Regulatory Elements for CAPN3 Gene

Genomic Location for CAPN3 Gene

Chromosome:
15
Start:
42,359,500 bp from pter
End:
42,412,318 bp from pter
Size:
52,819 bases
Orientation:
Plus strand

Genomic View for CAPN3 Gene

Genes around CAPN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPN3 Gene

Proteins for CAPN3 Gene

  • Protein details for CAPN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20807-CAN3_HUMAN
    Recommended name:
    Calpain-3
    Protein Accession:
    P20807
    Secondary Accessions:
    • A6H8K6
    • Q7L4R0
    • Q9BQC8
    • Q9BTU4
    • Q9Y5S6
    • Q9Y5S7

    Protein attributes for CAPN3 Gene

    Size:
    821 amino acids
    Molecular mass:
    94254 Da
    Quaternary structure:
    • Interacts with TTN/titin. Interacts with CMYA5; this interaction, which results in CMYA5 proteolysis, may protect CAPN3 from autolysis.

    Three dimensional structures from OCA and Proteopedia for CAPN3 Gene

    Alternative splice isoforms for CAPN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAPN3 Gene

Proteomics data for CAPN3 Gene at MOPED

Post-translational modifications for CAPN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for CAPN3 Gene

Gene Families for CAPN3 Gene

Graphical View of Domain Structure for InterPro Entry

P20807

UniProtKB/Swiss-Prot:

CAN3_HUMAN :
  • Contains 1 calpain catalytic domain.
  • Belongs to the peptidase C2 family.
Domain:
  • Contains 1 calpain catalytic domain.
  • Contains 4 EF-hand domains.
Family:
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with CAPN3: view

Function for CAPN3 Gene

Molecular function for CAPN3 Gene

GENATLAS Biochemistry:
calpain,large polypeptide L3,calcium dependent neutral cysteine proteinase,papain superfamily (subunit p94,muscle-specific,possessing a proteolytic activity against a potential substrat,fodrin)
UniProtKB/Swiss-Prot CatalyticActivity:
Broad endopeptidase activity.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by micromolar concentrations of calcium and inhibited by calpastatin.
UniProtKB/Swiss-Prot Function:
Calcium-regulated non-lysosomal thiol-protease.

Enzyme Numbers (IUBMB) for CAPN3 Gene

Gene Ontology (GO) - Molecular Function for CAPN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20860623
GO:0031402 sodium ion binding ISS --
GO:0031432 titin binding IPI 9642272
genes like me logo Genes that share ontologies with CAPN3: view
genes like me logo Genes that share phenotypes with CAPN3: view

Human Phenotype Ontology for CAPN3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAPN3 Gene

MGI Knock Outs for CAPN3:

miRNA for CAPN3 Gene

miRTarBase miRNAs that target CAPN3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CAPN3 Gene

Localization for CAPN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPN3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CAPN3 Gene COMPARTMENTS Subcellular localization image for CAPN3 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CAPN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030315 T-tubule ISS --
genes like me logo Genes that share ontologies with CAPN3: view

Pathways & Interactions for CAPN3 Gene

genes like me logo Genes that share pathways with CAPN3: view

Pathways by source for CAPN3 Gene

Gene Ontology (GO) - Biological Process for CAPN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001896 autolysis IEA --
GO:0006508 proteolysis IEA,IDA 9642272
GO:0006915 apoptotic process TAS 19386580
GO:0007165 signal transduction TAS 7720071
GO:0007517 muscle organ development TAS 9642272
genes like me logo Genes that share ontologies with CAPN3: view

No data available for SIGNOR curated interactions for CAPN3 Gene

Drugs & Compounds for CAPN3 Gene

(3) Drugs for CAPN3 Gene - From: Novoseek, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
MDL 28170 Pharma Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor 0

(5) Additional Compounds for CAPN3 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Acetyl-Calpastatin (184-210) (human)
123714-50-1
Calpeptin
117591-20-5
MG 132
133407-82-6
PD 150606
179528-45-1
genes like me logo Genes that share compounds with CAPN3: view

Transcripts for CAPN3 Gene

Unigene Clusters for CAPN3 Gene

Calpain 3, (p94):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1:
SP2: - - - - - - - - -
SP3:
SP4: - - - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - -
SP14: - - - - - - - -
SP15: - - - -
SP16: - - - - - -
SP17:
SP18: -
SP19: -
SP20:
SP21:
SP22:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^
SP1: - -
SP2: -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

ExUns: 43 ^ 44 ^ 45a · 45b · 45c ^ 46a · 46b ^ 47a · 47b ^ 48a · 48b · 48c ^ 49a · 49b ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59
SP1: - - - - - - -
SP2:
SP3: -
SP4:
SP5: - -
SP6: - - - - - - - -
SP7: - - -
SP8: - - - - -
SP9:
SP10: -
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for CAPN3 Gene

GeneLoc Exon Structure for
CAPN3
ECgene alternative splicing isoforms for
CAPN3

Expression for CAPN3 Gene

mRNA expression in normal human tissues for CAPN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAPN3 Gene

This gene is overexpressed in Muscle - Skeletal (x14.4) and Brain - Spinal cord (cervical c-1) (x4.4).

Protein differential expression in normal tissues from HIPED for CAPN3 Gene

This gene is overexpressed in Islet of Langerhans (36.5), Bone marrow mesenchymal stem cell (18.2), and Tonsil (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CAPN3 Gene



SOURCE GeneReport for Unigene cluster for CAPN3 Gene Hs.143261

mRNA Expression by UniProt/SwissProt for CAPN3 Gene

P20807-CAN3_HUMAN
Tissue specificity: Isoform I is skeletal muscle specific.
genes like me logo Genes that share expression patterns with CAPN3: view

In Situ Assay Products

No data available for Protein tissue co-expression partners for CAPN3 Gene

Orthologs for CAPN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAPN3 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CAPN3 35
  • 90.5 (n)
  • 92.33 (a)
CAPN3 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAPN3 36
  • 92 (a)
OneToOne
CAPN3 35
  • 91.35 (n)
  • 92.81 (a)
mouse
(Mus musculus)
Mammalia Capn3 16
Capn3 36
  • 93 (a)
OneToOne
Capn3 35
  • 90.13 (n)
  • 93.42 (a)
oppossum
(Monodelphis domestica)
Mammalia CAPN3 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Capn3 35
  • 90.38 (n)
  • 94.03 (a)
chicken
(Gallus gallus)
Aves CAPN3 35
  • 75.68 (n)
  • 78.77 (a)
CAPN3 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAPN3 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497532 35
  • 72.5 (n)
  • 76.27 (a)
zebrafish
(Danio rerio)
Actinopterygii capn3a 36
  • 67 (a)
OneToMany
capn3b 36
  • 63 (a)
OneToMany
capn3a 35
  • 71.33 (n)
  • 72.63 (a)
fruit fly
(Drosophila melanogaster)
Insecta CalpA 37
  • 42 (a)
CalpB 37
  • 40 (a)
CalpC 37
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea clp-3 37
  • 37 (a)
clp-6 37
  • 41 (a)
clp-7 37
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4609 36
  • 49 (a)
OneToMany
Species with no ortholog for CAPN3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAPN3 Gene

ENSEMBL:
Gene Tree for CAPN3 (if available)
TreeFam:
Gene Tree for CAPN3 (if available)

Paralogs for CAPN3 Gene

Pseudogenes.org Pseudogenes for CAPN3 Gene

genes like me logo Genes that share paralogs with CAPN3: view

Variants for CAPN3 Gene

Sequence variations from dbSNP and Humsavar for CAPN3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_001363 Limb-girdle muscular dystrophy 2A (LGMD2A)
VAR_001365 Limb-girdle muscular dystrophy 2A (LGMD2A)
VAR_001366 Limb-girdle muscular dystrophy 2A (LGMD2A)
rs141656719 Limb-girdle muscular dystrophy 2A (LGMD2A) 42,401,754(+) ACCGG(C/T)GGAAG upstream-variant-2KB, reference, missense
VAR_001368 Limb-girdle muscular dystrophy 2A (LGMD2A)

Structural Variations from Database of Genomic Variants (DGV) for CAPN3 Gene

Variant ID Type Subtype PubMed ID
nsv904133 CNV Gain 21882294
nsv832986 CNV Loss 17160897
nsv832987 CNV Gain 17160897

Variation tolerance for CAPN3 Gene

Residual Variation Intolerance Score: 19.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.13; 90.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAPN3 Gene

HapMap Linkage Disequilibrium report
CAPN3
Human Gene Mutation Database (HGMD)
CAPN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN3 Gene

Disorders for CAPN3 Gene

MalaCards: The human disease database

(16) MalaCards diseases for CAPN3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, type 2a
  • calpainopathy
autosomal recessive limb-girdle muscular dystrophy type 2a
  • limb-girdle muscular dystrophy type 2a
calpainopathy
  • limb-girdle muscular dystrophy type 2a
muscular dystrophy-dystroglycanopathy , type c, 7
  • lgmd2u
isolated hyperckemia
  • elevated serum cpk
- elite association - COSMIC cancer census association via MalaCards
Search CAPN3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAN3_HUMAN
  • Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]: An autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset. {ECO:0000269 PubMed:7720071, ECO:0000269 PubMed:8624690, ECO:0000269 PubMed:9150160, ECO:0000269 PubMed:9266733, ECO:0000269 PubMed:9452114, ECO:0000269 PubMed:9655129, ECO:0000269 PubMed:9762961, ECO:0000269 PubMed:9771675}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CAPN3

Genetic Association Database (GAD)
CAPN3
Human Genome Epidemiology (HuGE) Navigator
CAPN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAPN3
genes like me logo Genes that share disorders with CAPN3: view

No data available for Genatlas for CAPN3 Gene

Publications for CAPN3 Gene

  1. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. (PMID: 7720071) Richard I. … Beckmann J.S. (Cell 1995) 2 3 4 67
  2. Down-regulation of MyoD by calpain 3 promotes generation of reserve cells in C2C12 myoblasts. (PMID: 20139084) Stuelsatz P. … Veschambre P. (J. Biol. Chem. 2010) 3 23
  3. Novel variants of muscle calpain 3 identified in human melanoma cells: cisplatin-induced changes in vitro and differential expression in melanocytic lesions. (PMID: 19386580) Moretti D. … Maellaro E. (Carcinogenesis 2009) 3 23
  4. Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A. (PMID: 19556129) Charlton R. … Barresi R. (Neuromuscul. Disord. 2009) 3 23
  5. How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. (PMID: 18854869) Fanin M. … Angelini C. (Eur. J. Hum. Genet. 2009) 3 23

Products for CAPN3 Gene

Sources for CAPN3 Gene

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