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Capn3 Gene Detail
Summary
  • Symbol
    Capn3
  • Name
    calpain 3
  • Synonyms
    Capa3, Capa-3, Lp82, p94
  • Feature Type
    protein coding gene
  • IDs
    MGI:107437
    NCBI Gene: 12335
Location & Maps
more
  • Sequence Map
    Chr2:120456019-120504913 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      48895 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CAPN3, calpain 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CAPN3, calpain 3
    Orthology source: HomoloGene
  • Synonyms
    CANP3, CANPL3, LGMD2, LGMD2A, nCL-1, p94
  • Links
    NCBI Gene ID: 825
    neXtProt AC: NX_P20807

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

  • HomoloGene
    Vertebrate Homology Class 52
    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
Human Diseases
more
  • Diseases
    1 with Capn3 mouse models; 1 with human CAPN3 associations

Human Disease Mouse Models
       Muscular Dystrophy, Limb-Girdle, Type 2A; LGMD2A   OMIM: 253600 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 12 alleles in 4 genetic backgrounds
    4 phenotypes from multigenic genotypes
    1 images
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    23
  • Chemically induced (other)
    1
  • Gene trapped
    6
  • Radiation induced
    1
  • Targeted
    5
  • Transgenic
    10
  • Genomic Mutations
    2 involving Capn3
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    590 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 74
    Genomic 26
    cDNA 36
    Primer pair 5
    Other 7

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-1752, MGD-MRK-1756, MGD-MRK-35908, MGI:2138901, MGI:88265
References
more
  • Summaries
    All 76
    Developmental Gene Expression 9
    Diseases 3
    Gene Ontology 11
    Phenotypes 23
  • 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:224761 Rouillon J, et al., Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies. Hum Mol Genet. 2015 Sep 1;24(17):4916-32

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory