ENSG00000092529


Homo sapiens

Features
Gene ID: ENSG00000092529
  
Biological name :CAPN3
  
Synonyms : calpain 3 / CAPN3 / P20807
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q15.1
Gene start: 42359500
Gene end: 42412318
  
Corresponding Affymetrix probe sets: 210944_s_at (Human Genome U133 Plus 2.0 Array)   211890_x_at (Human Genome U133 Plus 2.0 Array)   214475_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457878
Ensembl peptide - ENSP00000457759
Ensembl peptide - ENSP00000457898
Ensembl peptide - ENSP00000183936
Ensembl peptide - ENSP00000326281
Ensembl peptide - ENSP00000336840
Ensembl peptide - ENSP00000348667
Ensembl peptide - ENSP00000350181
Ensembl peptide - ENSP00000380349
Ensembl peptide - ENSP00000380384
Ensembl peptide - ENSP00000380387
Ensembl peptide - ENSP00000454379
Ensembl peptide - ENSP00000454937
Ensembl peptide - ENSP00000455254
Ensembl peptide - ENSP00000456514
Ensembl peptide - ENSP00000456575
Ensembl peptide - ENSP00000456607
NCBI entrez gene - 825     See in Manteia.
OMIM - 114240
RefSeq - NM_024344
RefSeq - NM_173090
RefSeq - NM_173089
RefSeq - NM_173088
RefSeq - NM_173087
RefSeq - NM_000070
RefSeq Peptide - NP_077320
RefSeq Peptide - NP_000061
RefSeq Peptide - NP_775110
RefSeq Peptide - NP_775111
RefSeq Peptide - NP_775112
RefSeq Peptide - NP_775113
swissprot - H3BS30
swissprot - H3BNN7
swissprot - H3BMH1
swissprot - F8W8F5
swissprot - P20807
swissprot - A0A0S2Z3E1
swissprot - H3BUR3
swissprot - H3BUZ3
swissprot - H3BV08
swissprot - H3BSA2
swissprot - H3BS77
Ensembl - ENSG00000092529
  
Related genetic diseases (OMIM): 253600 - Muscular dystrophy, limb-girdle, type 2A, 253600
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 capn3aENSDARG00000041864Danio rerio
 capn3bENSDARG00000043035Danio rerio
 CAPN3ENSGALG00000009050Gallus gallus
 Capn3ENSMUSG00000079110Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CAPN9 / O14815 / calpain 9ENSG0000013577347
CAPN1 / P07384 / calpain 1ENSG0000001421646
CAPN11 / Q9UMQ6 / calpain 11ENSG0000013722543
CAPN2 / P17655 / calpain 2ENSG0000016290943
CAPN8 / A6NHC0 / calpain 8ENSG0000020369742
CAPN12 / Q6ZSI9 / calpain 12ENSG0000018247233
A8MX76 / CAPN14 / calpain 14ENSG0000021471132
CAPN5 / O15484 / calpain 5ENSG0000014926028
CAPN13 / Q6MZZ7 / calpain 13ENSG0000016294926
CAPN6 / Q9Y6Q1 / calpain 6ENSG0000007727424


Protein motifs (from Interpro)
Interpro ID Name
 IPR000169  Cysteine peptidase, cysteine active site
 IPR001300  Peptidase C2, calpain, catalytic domain
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR022682  Peptidase C2, calpain, large subunit, domain III
 IPR022683  Peptidase C2, calpain, domain III
 IPR022684  Peptidase C2, calpain family
 IPR029531  Calpain-3
 IPR033883  Calpain subdomain III
 IPR036213  Calpain large subunit, domain III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006915 apoptotic process TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007517 muscle organ development TAS
 biological_processGO:0012501 programmed cell death IEA
 biological_processGO:0014718 positive regulation of satellite cell activation involved in skeletal muscle regeneration ISS
 biological_processGO:0014850 response to muscle activity ISS
 biological_processGO:0030239 myofibril assembly TAS
 biological_processGO:0033234 negative regulation of protein sumoylation IDA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling IMP
 biological_processGO:0045214 sarcomere organization IEA
 biological_processGO:0045661 regulation of myoblast differentiation IEA
 biological_processGO:0045862 positive regulation of proteolysis ISS
 biological_processGO:0045892 negative regulation of transcription, DNA-templated ISS
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0046716 muscle cell cellular homeostasis TAS
 biological_processGO:0050790 regulation of catalytic activity IDA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IMP
 biological_processGO:0051281 positive regulation of release of sequestered calcium ion into cytosol ISS
 biological_processGO:0051592 response to calcium ion ISS
 biological_processGO:0061061 muscle structure development ISS
 biological_processGO:0065003 protein-containing complex assembly ISS
 biological_processGO:0070315 G1 to G0 transition involved in cell differentiation IEA
 biological_processGO:0071277 cellular response to calcium ion ISS
 biological_processGO:0071472 cellular response to salt stress ISS
 biological_processGO:0072657 protein localization to membrane ISS
 biological_processGO:0097264 self proteolysis IDA
 biological_processGO:2001015 negative regulation of skeletal muscle cell differentiation IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0030016 myofibril ISS
 cellular_componentGO:0030018 Z disc ISS
 cellular_componentGO:0030315 T-tubule ISS
 cellular_componentGO:0032991 protein-containing complex ISS
 molecular_functionGO:0003824 catalytic activity IDA
 molecular_functionGO:0004198 calcium-dependent cysteine-type endopeptidase activity IEA
 molecular_functionGO:0004871 obsolete signal transducer activity TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IEA
 molecular_functionGO:0008307 structural constituent of muscle ISS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0031402 sodium ion binding ISS
 molecular_functionGO:0031432 titin binding IPI
 molecular_functionGO:0032947 protein-containing complex scaffold activity ISS
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0055103 ligase regulator activity IDA


Pathways (from Reactome)
Pathway description
Degradation of the extracellular matrix


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001371 Contractures 
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 HP:0001880 Eosinophilia "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken]
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 HP:0002312 Clumsiness 
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 HP:0002355 Difficulty walking 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003560 Muscular dystrophy "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators]
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 HP:0003691 Scapular winging 
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 HP:0007126 Proximal amyotrophy "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:curators]
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 HP:0010628 Facial muscle weakness "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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