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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
  • Alliance
  • Transcription Start Sites
    18 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr2:120294074-120335400 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 2, 60.31 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    471 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107437
protein coding gene Chr2:120294053-120335400 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026367
protein coding gene Chr2:123323601-123374913 (+)
A/J MGP_AJ_G0026328
protein coding gene Chr2:118270584-118319784 (+)
AKR/J MGP_AKRJ_G0026307
protein coding gene Chr2:121573485-121622831 (+)
BALB/cJ MGP_BALBcJ_G0026341
protein coding gene Chr2:118513430-118562107 (+)
C3H/HeJ MGP_C3HHeJ_G0026087
protein coding gene Chr2:122058610-122110713 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026788
protein coding gene Chr2:127338565-127395694 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024168
protein coding gene Chr2:113291076-113339589 (+)
CAST/EiJ MGP_CASTEiJ_G0025549
protein coding gene Chr2:122363724-122414724 (+)
CBA/J MGP_CBAJ_G0026063
protein coding gene Chr2:131795411-131854499 (+)
DBA/2J MGP_DBA2J_G0026202
protein coding gene Chr2:117659694-117711431 (+)
FVB/NJ MGP_FVBNJ_G0026164
protein coding gene Chr2:116497170-116547941 (+)
LP/J MGP_LPJ_G0026303
protein coding gene Chr2:123582413-123632601 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026183
protein coding gene Chr2:136108058-136163692 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026843
protein coding gene Chr2:121699869-121754090 (+)
PWK/PhJ MGP_PWKPhJ_G0025285
protein coding gene Chr2:117264536-117318252 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025084
protein coding gene Chr2:120898235-120947953 (+)
WSB/EiJ MGP_WSBEiJ_G0025618
protein coding gene Chr2:122532606-122586900 (+)



Homology
more
  • Human Ortholog
    CAPN3, calpain 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CAPN3, calpain 3
  • Synonyms
    CANP3, CANPL3, LGMD2, LGMD2A, LGMDD4, LGMDR1, nCL-1, p94
  • Links
    NCBI Gene ID: 825
    neXtProt AC: NX_P20807
    UniProt: P20807

  • Chr Location
    15q15.1; chr15:42359498-42412949 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with Capn3 mouse models; 3 with human CAPN3 associations

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 3 alleles in 3 genetic backgrounds
    8 phenotypes from multigenic genotypes
    3 images
    33 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12335 NCBI Gene Model | MGI Sequence Detail 41327 C57BL/6J ±  kb
    transcript NM_007601 RefSeq | MGI Sequence Detail 3167 ZRU/MplStud  
    polypeptide Q64691 UniProt | EBI | MGI Sequence Detail 821 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 81
      Genomic 26
      cDNA 38
      Primer pair 7
      Other 10

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-1752, MGD-MRK-1756, MGD-MRK-35908, MGI:2138901, MGI:88265
    References
    more
    • Summaries
      All 94
      Developmental Gene Expression 11
      Diseases 4
      Gene Ontology 13
      Phenotypes 33
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:328223 Winter L, et al., Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome. Life Sci Alliance. 2022 Nov;5(11):e202201367

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory