Gene: CAPN5

Alternate names for this Gene: ADNIV|HTRA3|VRNI|nCL-3

Gene Summary: Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.5

Description of this Gene: calpain 5

Type of Gene: protein-coding

rs77301713 in CAPN5 gene and Eosinophilic esophagitis PMID 25017104 2014 Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.

rs143494790 in CAPN5 gene and Malignant neoplasm of breast PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

rs397514601 in CAPN5 gene and Proliferative vitreoretinopathy PMID 23055945 2012 Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.