Property Summary

NCBI Gene PubMed Count 108
Grant Count 40
R01 Count 34
Funding $4,224,660.23
PubMed Score 303.52
PubTator Score 298.38

Knowledge Summary

Patent

No data available

Expression

Gene RIF (76)

PMID Text
27055500 CAPN3 deficiency leads to degradation of SERCA proteins and Ca2+ dysregulation in the skeletal muscle.
26632398 We identified four novel CAPN3 mutations and demonstrated clinical and pathological heterogeneity in Korean patients with calpainopathy.
26484845 We analyzed 76 families affected with LGMD and identified 62 probands with mutations in the CANP3 gene. C.550delA was the most common mutation identified, being found in 78% of the LGMD2A families
26363099 Studies indicate that gene mutations causing muscle-specific calcium-activated neutral protease 3 protein (CAPN3) defects are responsible for limb-girdle muscular dystrophy type 2A (LGMD2A).
25877298 Cleavage of C-terminal titin by CAPN3 is associated with limb-girdle muscular dystrophy 2A and tibial muscular dystrophy.
25658320 Calpain-3 over-expression induces p53 activation and redox imbalance in melanoma A375 cells.
25512505 results provide evidence that WT CAPN3 can be formed by the iMOC of two different complementary CAPN3 mutants
25252031 Phosphorylated CAPN3 is involved in the pathology of limb-girdle muscular dystrophy type 2A through defects in myofibril integrity and/or signaling pathways.
24715573 a heterozygous deletion of the entire CAPN3 gene was found in a patients with Limb-girdle muscular dystrophy type 2A
24126726 The results indicate that PDGF-C upregulation and calpain-3 downregulation are involved in the aggressiveness of malignant melanoma and suggest that modulators of these proteins
More...

AA Sequence

MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLE      1 - 70
KKVLYVDPEFPPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTL     71 - 140
NQHLLFRVIPHDQSFIENYAGIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYA    141 - 210
KLHGSYEALKGGNTTEAMEDFTGGVAEFFEIRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSG    211 - 280
LNMGELIARMVRNMDNSLLQDSDLDPRGSDERPTRTIIPVQYETRMACGLVRGHAYSVTGLDEVPFKGEK    281 - 350
VKLVRLRNPWGQVEWNGSWSDRWKDWSFVDKDEKARLQHQVTEDGEFWMSYEDFIYHFTKLEICNLTADA    351 - 420
LQSDKLQTWTVSVNEGRWVRGCSAGGCRNFPDTFWTNPQYRLKLLEEDDDPDDSEVICSFLVALMQKNRR    421 - 490
KDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYNASKARSKTYINMREVSQRFRLPPSEYVIVPST    491 - 560
YEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVKKKKTKPIIFVSDRANSNKELGVDQESEEGKGKTSP    561 - 630
DKQKQSPQPQPGSSDQESEEQQQFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSM    631 - 700
IALMDTDGSGKLNLQEFHHLWNKIKAWQKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRY    701 - 770
ADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVLEWLQLTMYA                       771 - 821
//

Text Mined References (110)

PMID Year Title
27234031 2016 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
27055500 2016 Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
27020652 Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26632398 2016 Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.
26484845 2015 The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.
26363099 2016 An eccentric calpain, CAPN3/p94/calpain-3.
25877298 2015 CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
25658320 2015 Calpain-3 impairs cell proliferation and stimulates oxidative stress-mediated cell death in melanoma cells.
25512505 2014 The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation.
More...