CAPN14 (calpain 14)

2014-11-01  

Identity

HGNC
LOCATION
2p23.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 440854
MIM: 610229
HGNC: 16664
Ensembl: ENSG00000214711

Variants:

dbSNP: 440854
ClinVar: 440854
TCGA: ENSG00000214711
COSMIC: CAPN14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000214711ENST00000398824F1LLU4
ENSG00000214711ENST00000403897A8MX76

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228

References

Pubmed IDYearTitleCitations
334463292021Very early onset eosinophilic esophagitis is common, responds to standard therapy, and demonstrates enrichment for CAPN14 genetic variants.12
334463292021Very early onset eosinophilic esophagitis is common, responds to standard therapy, and demonstrates enrichment for CAPN14 genetic variants.12
330081382020Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects.12
330081382020Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects.12
306265912019Genetic, Inflammatory, and Epithelial Cell Differentiation Factors Control Expression of Human Calpain-14.15
306265912019Genetic, Inflammatory, and Epithelial Cell Differentiation Factors Control Expression of Human Calpain-14.15
281313902017Calpain-14 and its association with eosinophilic esophagitis.47
281313902017Calpain-14 and its association with eosinophilic esophagitis.47
254079412014GWAS identifies four novel eosinophilic esophagitis loci.114
254079412014GWAS identifies four novel eosinophilic esophagitis loci.114

Citation

Dessen P

CAPN14 (calpain 14)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61408/capn14-(calpain-14)