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 zebrafish

Gene Tree: Capn3

Human homologs

Human Homolog		CAPN3, calpain 3, (p94)
NCBI Gene ID		825
neXtProt AC		NX_P20807
Human Synonyms		CANP3, CANPL3, LGMD2, LGMD2A, nCL-1, p94
Human Chr (Location)		15q15.1; chr15:42651698-42704515 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CAPN3

Alleles and phenotypes

All alleles(11) : Targeted(5) Gene trapped(6)
 

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 Using Mouse Capn3 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (62 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: (8 records)
Data Summary: Results (81)    Tissues (21)    Images (2)
Theiler Stages: 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	53
RT-PCR	28

cDNA source data(35)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1582752, TC1588247, TC1589813, TC1668416, TC1704821, TC1759484
EC	3.4.22.54
Consensus CDS Project	CCDS16620.1, CCDS50679.1, CCDS50680.1
International Mouse Knockout Project Status	Capn3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000015381	VEGA Gene Model | MGI Sequence Detail	48895	C57BL/6J
transcript	OTTMUST00000036492	VEGA | MGI Sequence Detail	3174	Not Applicable
polypeptide	OTTMUSP00000016396	VEGA | MGI Sequence Detail	821	Not Applicable

All sequences(83) RefSeq(6) UniProt(13)

Polymorphisms

SNPs(425 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002048	Calcium-binding EF-hand
InterPro	IPR000169	Cysteine peptidase, cysteine active site
InterPro	IPR018247	EF-Hand 1, calcium-binding site
InterPro	IPR018249	EF-HAND 2
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:185282 Kramerova I, et al., Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3. Hum Mol Genet. 2012 Jul 15;21(14):3193-204
All references(74)

Other accession IDs

MGD-MRK-1752, MGD-MRK-1756, MGD-MRK-35908, MGI:2138901, MGI:88265