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Aliases for CAPN3 Gene

Aliases for CAPN3 Gene

  • Calpain 3, (P94) 2 3
  • CANP3 3 4 6
  • New Calpain 1 3 4
  • EC 3.4.22.54 4 64
  • CANPL3 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 P94 4
  • Calpain L3 4
  • Calpain-3 3
  • EC 3.4.22 64
  • LGMD2A 3
  • CANP 3 4
  • LGMD2 3
  • NCL1 4
  • P94 3

External Ids for CAPN3 Gene

Previous Symbols for CAPN3 Gene

  • LGMD2
  • LGMD2A

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, (P94)) is a Protein Coding gene. Diseases associated with CAPN3 include idiopathic eosinophilic myositis and calpainopathy. Among its related pathways are ERK Signaling and Apoptosis Pathway. GO annotations related to this gene include calcium ion binding and cysteine-type 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. This family contains 14 members with mu-calpain (calpain 1) and m-calpain (calpain 2) being the most well-characterized. 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. Calpains are regulated by Ca2+ concentration, phosphorylation, calpastatin and probably by altering their subcellular localization (limiting access to substrate). These endopeptidases have numerous functions including, but not limited to, remodeling of cytoskeletal attachments to the plasma membrane during cell fusion and cell motility, proteolytic modification of molecules in signal transduction pathways, degradation of enzymes controlling progression through the cell cycle, regulation of gene expression, substrate degradation in some apoptotic pathways, and an involvement in long-term potentiation. Perturbations in calpain activity have been associated in pathophysiological processes contributing to type II diabetes (calpain 10), Alzheimers disease (calpain 1), gastric cancer (calpain 9) and muscular dystrophy (calpain 3).

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

Genomic Location for CAPN3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CAPN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPN3 Gene

Regulatory Elements 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

Domains for CAPN3 Gene

Gene Families for CAPN3 Gene

HGNC:
  • EFHAND :EF-hand domain containing

UniProtKB/Swiss-Prot:

CAN3_HUMAN
Domain:
  • Contains 1 calpain catalytic domain.:
    • P20807
  • Contains 4 EF-hand domains.:
    • P20807
Family:
  • Belongs to the peptidase C2 family.:
    • P20807
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:0003824 catalytic activity IDA 9642272
GO:0004198 calcium-dependent cysteine-type endopeptidase activity TAS 9642272
GO:0004871 signal transducer activity TAS 7720071
GO:0005509 calcium ion binding ISS --
GO:0005515 protein binding IPI 20860623
genes like me logo Genes that share ontologies with CAPN3: view
genes like me logo Genes that share phenotypes with CAPN3: view

Animal Models for CAPN3 Gene

MGI Knock Outs for CAPN3:

No data available for miRNA , Transcription Factor Targeting 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
nucleus 5
cytosol 4
plasma membrane 4
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CAPN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS 9642272
GO:0005634 nucleus IDA 19386580
GO:0005737 cytoplasm IDA 19386580
GO:0005829 cytosol ISS --
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with CAPN3: view

Pathways 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:0006461 protein complex assembly ISS --
GO:0006508 proteolysis IDA 18310072
GO:0006915 apoptotic process TAS 19386580
GO:0007165 signal transduction TAS 7720071
genes like me logo Genes that share ontologies with CAPN3: view

Compounds for CAPN3 Gene

(9) ApexBio Compounds for CAPN3 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Selective calpain inhibitor. [123714-50-1]
Calpain Inhibitor I, ALLN A cell-permeable inhibitor of calpain I, calpain II, cathepsin B, and cathepsin L. [110044-82-1]
Calpain Inhibitor II, ALLM A cell-permeable inhibitor of calpain 1 and calpain 2. [136632-32-1]
Calpeptin Potent cathepsin L inhibitor [117591-20-5]
E-64 Irriversible cysteine protease inhibitor [66701-25-5]
MDL 28170 Potent, selective inhibitor of calpain and cathepsin B. [88191-84-8]
MG-132 Proteasome and calpain inhibitor. [133407-82-6]
PD 150606 Selective, cell-permeable non-peptide calpain inhibitor. [179528-45-1]
Z-FA-FMK An inhibitor of cysteine proteases, such as cathepsin B.

(5) Tocris Compounds for CAPN3 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Selective calpain inhibitor [123714-50-1]
MDL 28170 Potent, selective calpain and cathepsin B inhibitor [88191-84-8]
MG 101 Calpain inhibitor; activates p53-dependent apoptosis [110044-82-1]
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation [133407-82-6]
PD 150606 Cell permeable calpain inhibitor [179528-45-1]

(1) HMDB Compounds for CAPN3 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(3) Novoseek inferred chemical compound relationships for CAPN3 Gene

Compound -log(P) Hits PubMed IDs
cysteine 52.3 9
creatinine 21.7 2
calcium 0 12
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 (14.4) and Brain - Spinal cord (cervical c-1) (4.4).

Integrated Proteomics: protein expression 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 expressions with CAPN3: view

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 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CAPN3 36
  • 90.5 (n)
  • 92.33 (a)
CAPN3 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAPN3 36
  • 91.35 (n)
  • 92.81 (a)
CAPN3 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Capn3 36
  • 90.13 (n)
  • 93.42 (a)
Capn3 16
Capn3 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CAPN3 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Capn3 36
  • 90.38 (n)
  • 94.03 (a)
chicken
(Gallus gallus)
Aves CAPN3 36
  • 75.68 (n)
  • 78.77 (a)
CAPN3 37
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAPN3 37
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497532 36
  • 72.5 (n)
  • 76.27 (a)
zebrafish
(Danio rerio)
Actinopterygii capn3a 36
  • 71.33 (n)
  • 72.63 (a)
capn3a 37
  • 67 (a)
OneToMany
capn3b 37
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CalpA 38
  • 42 (a)
CalpB 38
  • 40 (a)
CalpC 38
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea clp-7 38
  • 42 (a)
clp-6 38
  • 41 (a)
clp-3 38
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4609 37
  • 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 MAF
rs17592 other, - 42,386,266(+) CTACG(C/G)AGGGA reference, missense
rs17593 other 42,387,860(+) TGGAG(C/T)GCTCT synonymous-codon, reference
rs728507 -- 42,363,544(+) GCTTC(C/T)GTCTT intron-variant
rs728508 -- 42,363,644(+) AGTCA(C/T)GCAGG intron-variant
rs728509 -- 42,363,790(+) AAGTA(C/T)CATTA intron-variant

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

Relevant External Links for CAPN3 Gene

HapMap Linkage Disequilibrium report
CAPN3
Human Gene Mutation Database (HGMD)
CAPN3
Locus Specific Mutation Databases (LSDB)
CAPN3

Disorders for CAPN3 Gene

(1) OMIM Diseases for CAPN3 Gene (114240)

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.

(2) University of Copenhagen DISEASES for CAPN3 Gene

(24) Novoseek inferred disease relationships for CAPN3 Gene

Disease -log(P) Hits PubMed IDs
lgmd2a 99 102
muscular dystrophy limb-girdle 95.7 27
lgmd2g 92.8 5
limb girdle 90.8 11
muscular dystrophy, limb-girdle, autosomal recessive 90.1 2

Relevant External Links for CAPN3

GeneTests
CAPN3
GeneReviews
CAPN3
Genetic Association Database (GAD)
CAPN3
Human Genome Epidemiology (HuGE) Navigator
CAPN3
genes like me logo Genes that share disorders with CAPN3: view

Publications for CAPN3 Gene

  1. A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. (PMID: 9266733) Dincer P. … Topaloglu H. (Ann. Neurol. 1997) 3 4 23
  2. Calpainopathy -- a survey of mutations and polymorphisms. (PMID: 10330340) Richard I. … Beckmann J.S. (Am. J. Hum. Genet. 1999) 3 4 23
  3. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. (PMID: 15689361) SA!enz A. … LA^pez de Munain A. (Brain 2005) 3 23 49
  4. Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. (PMID: 14981715) Canki-Klain N. … Feingold J. (Am. J. Med. Genet. A 2004) 3 23 49
  5. Molecular diagnosis in LGMD2A: mutation analysis or protein testing? (PMID: 15221789) Fanin M. … Angelini C. (Hum. Mutat. 2004) 3 23 49

Products for CAPN3 Gene

Sources for CAPN3 Gene

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