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Gene: CAPN3 (calpain 3) Homo sapiens
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Symbol: CAPN3
Name: calpain 3
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: calcium-activated neutral proteinase 3; calpain 3, (p94); calpain L3; calpain p94, large [catalytic] subunit; calpain, large polypeptide L3; calpain-3; CANP 3; CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4; LGMDR1; MGC10767; MGC11121; MGC14344; MGC4403; muscle-specific calcium-activated neutral protease 3 large subunit; nCL-1; new calpain 1; p94
Orthologs:
Mus musculus (house mouse) : Capn3 (calpain 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Capn3 (calpain 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Capn3 (calpain 3)
Pan paniscus (bonobo/pygmy chimpanzee) : CAPN3 (calpain 3)
Canis lupus familiaris (dog) : CAPN3 (calpain 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Capn3 (calpain 3)
Sus scrofa (pig) : CAPN3 (calpain 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381542,359,500 - 42,412,317 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371542,646,545 - 42,704,515 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361540,427,593 - 40,491,807 (+)NCBINCBI36hg18NCBI36
Build 341540,427,592 - 40,491,807NCBI
Celera1519,408,011 - 19,472,224 (+)NCBI
Cytogenetic Map15q15.1NCBI
HuRef1519,499,872 - 19,552,636 (+)NCBIHuRef
CHM1_11542,770,186 - 42,823,000 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CAPN3
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 731876
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.