Aliases for CAPN2 Gene
External Ids for CAPN2 Gene
Previous GeneCards Identifiers for CAPN2 Gene
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
GeneCards Summary for CAPN2 Gene
CAPN2 (Calpain 2) is a Protein Coding gene. Diseases associated with CAPN2 include Muscular Dystrophy, Limb-Girdle, Type 2A. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and DREAM Repression and Dynorphin Expression. GO annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is CAPN1.
UniProtKB/Swiss-Prot for CAPN2 Gene
Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Proteolytically cleaves MYOC at Arg-226 (PubMed:17650508). Proteolytically cleaves CPEB3 following neuronal stimulation which abolishes CPEB3 translational repressor activity, leading to translation of CPEB3 target mRNAs (By similarity).
Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure.