Aliases for CAPNS2 Gene
External Ids for CAPNS2 Gene
Previous GeneCards Identifiers for CAPNS2 Gene
GeneCards Summary for CAPNS2 Gene
CAPNS2 (Calpain Small Subunit 2) is a Protein Coding gene. Diseases associated with CAPNS2 include Coffin-Siris Syndrome 2 and Coffin-Siris Syndrome 1. Among its related pathways are B Cell Receptor Signaling Pathway (sino) and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPNS1.
UniProtKB/Swiss-Prot Summary for CAPNS2 Gene
Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity.
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.