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Capn3
Gene Detail
Symbol

Name
ID
Capn3
calpain 3
MGI:107437
Synonyms
Capa3, Capa-3, Lp82, p94
Feature Type
protein coding gene
Genetic Map
Chromosome 2
60.31 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr2:120456019-120504913 bp, + strand
From VEGA annotation of GRCm38

  48895 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:52  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CAPN3
Gene Tree: Capn3

Human
homologs
CAPN3, calpain 3
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 825
neXtProt AC: NX_P20807

Human Synonyms: CANP3, CANPL3, LGMD2, LGMD2A, nCL-1, p94

Human Chr (Location): 15q15.1; chr15:42359500-42412317 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CAPN3

Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(6) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in muscle dystrophy. The psoas, soleus, and deltoid muscles are the most severely affected. The mutant allele appears to be preferentially transmitted resulting in ratio distortion.
 
Human Diseases Modeled in Mice Using Capn3 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(1)
Interactions
Capn3 interacts with 98 markers (Mir19a, Mir19b-1, Mir19b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (63 annotations)
Process autolysis, cellular response to calcium ion, ...
Component cytoplasm, cytosol, ...
Function calcium-dependent cysteine-type endopeptidase activity, calcium ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (9 records)
Data Summary: Results (81)    Tissues (22)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 53
RT-PCR 28
cDNA source data(35)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase capn3 ; ZFIN capn3a    NEW 
Molecular
reagents
All nucleic(74) Genomic(26) cDNA(36) Primer pair(5) Other(7)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000015381 (Evidence)
Ensembl Gene Model ENSMUSG00000079110 (Evidence)
Entrez Gene 12335 (Evidence)
UniGene 458021
DFCI TC1759484, TC1582752, TC1588247, TC1704821, TC1668416, TC1589813
EC 3.4.22.54
Consensus CDS Project CCDS16620.1, CCDS50679.1, CCDS50680.1
International Mouse Phenotyping Consortium Status Capn3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015381 VEGA Gene Model | MGI Sequence Detail 48895 C57BL/6J ±  kb
transcript OTTMUST00000036492 VEGA | MGI Sequence Detail 3174 Not Applicable 
polypeptide OTTMUSP00000016396 VEGA | MGI Sequence Detail 821 Not Applicable 

For the selected sequences
All sequences(82) RefSeq(6) UniProt(12)
Polymorphisms
SNPs within 2kb(590 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000169 Cysteine peptidase, cysteine active site
InterPro IPR018247 EF-Hand 1, calcium-binding site
InterPro IPR002048 EF-hand domain
InterPro IPR011992 EF-hand-like domain
InterPro IPR001300 Peptidase C2, calpain, catalytic domain
InterPro IPR022683 Peptidase C2, calpain, domain III
InterPro IPR022684 Peptidase C2, calpain family
InterPro IPR022682 Peptidase C2, calpain, large subunit, domain III
Protein Ontology PR:000005016 calpain-3
References
(Earliest) J:10758 Ohno S, et al., Four genes for the calpain family locate on four distinct human chromosomes. Cytogenet Cell Genet. 1990;53(4):225-9
(Latest) J:201986 Sun M, et al., Crybb2 coding for betaB2-crystallin affects sensorimotor gating and hippocampal function. Mamm Genome. 2013 Oct;24(9-10):333-48
All references(74)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-1752, MGD-MRK-1756, MGD-MRK-35908, MGI:2138901, MGI:88265

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory