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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CAPN3 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID825
Official gene symbolCAPN3
Full namecalpain 3, (p94)
Aliases,CANP3,CANPL3,LGMD2,LGMD2A,MGC10767,MGC11121,MGC14344,MGC4403,nCL-1,p94,
Gene summaryCalpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq]
LocationChromosome: 15   Locus: 15q15.1-q21.1
Gene position42640301 - 42704515  Map Viewer
Gene orientationplus
Gene size64215 bp
Gene sequence
OMIM ID114240