Gene Gene information from NCBI Gene database.
Entrez ID 440854
Gene name Calpain 14
Gene symbol CAPN14
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p23.1
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 10
miRNA miRNA information provided by mirtarbase database.
38
miRTarBase ID miRNA Experiments Reference
MIRT861905 hsa-miR-1224-3p CLIP-seq
MIRT861906 hsa-miR-1253 CLIP-seq
MIRT861907 hsa-miR-1295 CLIP-seq
MIRT861908 hsa-miR-3121-5p CLIP-seq
MIRT861909 hsa-miR-3124-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0004198 Function Calcium-dependent cysteine-type endopeptidase activity IBA
GO:0004198 Function Calcium-dependent cysteine-type endopeptidase activity IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0006508 Process Proteolysis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610229 16664 ENSG00000214711
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A8MX76
Protein name Calpain-14 (EC 3.4.22.-) (Calcium-activated neutral proteinase 14) (CANP 14)
Protein function Calcium-regulated non-lysosomal thiol-protease.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00648 Peptidase_C2 44 334 Calpain family cysteine protease Family
PF01067 Calpain_III 355 491 Calpain large subunit, domain III Domain
Tissue specificity TISSUE SPECIFICITY: Not expressed in tissues tested.
Sequence
Sequence length 684
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Degradation of the extracellular matrix
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Amyotrophic lateral sclerosis Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
BREAST DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Allergic sensitization Allergic Sensitization BEFREE 25666870
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis GWASCAT_DG 28333195
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Eosinophilic esophagitis Eosinophilia GWASCAT_DG 25017104, 25407941
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Eosinophilic esophagitis Eosinophilia CTD_human_DG 25017104
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Eosinophilic Esophagitis Eosinophilia Pubtator 25017104, 25407941, 26258919, 29029802, 29129581, 31909633, 33446329, 34815391, 37652141 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Eosinophilic esophagitis Eosinophilia BEFREE 26258919, 26418324, 28131390, 28224995, 28757265, 29029802, 29980278, 30903437
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Eosinophilic Esophagitis Eosinophilia Pubtator 30626591 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastroesophageal reflux disease Gastroesophageal Reflux Disease BEFREE 28757265
★☆☆☆☆
Found in Text Mining only
Otitis Media Otitis media BEFREE 23133572
★☆☆☆☆
Found in Text Mining only