Gene: CAPN14

Alternate names for this Gene: -

Gene Summary: Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript exon combination :: AK296910.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000403897.4/ ENSP00000385247.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.1

Description of this Gene: calpain 14

Type of Gene: protein-coding

rs116175374 in CAPN14 gene and Endometriosis PMID 28333195 2017 Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis.

rs149864795 in CAPN14 gene and Eosinophilic esophagitis PMID 25407941 2014 GWAS identifies four novel eosinophilic esophagitis loci.

PMID 25017104 2014 Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.