Gene Gene information from NCBI Gene database.
Entrez ID 92291
Gene name Calpain 13
Gene symbol CAPN13
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p23.1
Summary The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct
miRNA miRNA information provided by mirtarbase database.
84
miRTarBase ID miRNA Experiments Reference
MIRT018063 hsa-miR-335-5p Microarray 18185580
MIRT019322 hsa-miR-148b-3p Microarray 17612493
MIRT648576 hsa-miR-3919 HITS-CLIP 23824327
MIRT648575 hsa-miR-4756-3p HITS-CLIP 23824327
MIRT648574 hsa-miR-6515-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
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:0005737 Component Cytoplasm IBA
GO:0006508 Process Proteolysis IBA
GO:0006508 Process Proteolysis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610228 16663 ENSG00000162949
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6MZZ7
Protein name Calpain-13 (EC 3.4.22.-) (Calcium-activated neutral proteinase 13) (CANP 13)
Protein function Probable non-lysosomal thiol-protease.
PDB 2I7A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00648 Peptidase_C2 35 331 Calpain family cysteine protease Family
PF01067 Calpain_III 354 474 Calpain large subunit, domain III Domain
Tissue specificity TISSUE SPECIFICITY: Weakly expressed in lung and testis. Weakly or not expressed in other tissues. {ECO:0000269|PubMed:11675017}.
Sequence
Sequence length 669
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.).
3
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
OROPHARYNX CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Breast Neoplasms Breast neoplasm Pubtator 32079541 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 26399219 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 26399219
★☆☆☆☆
Found in Text Mining only
Epithelial ovarian cancer Ovarian cancer BEFREE 26399219
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 20591971 Associate
★☆☆☆☆
Found in Text Mining only