CAPN7 (calpain 7)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23473 |
| Gene name | Calpain 7 |
| Gene symbol | CAPN7 |
| Synonyms (NCBI Gene) |
CALPAIN7PALBH
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| Chromosome | 3 |
| Chromosome location | 3p25.1 |
| Summary | Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, an |
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miRNA
miRNA information provided by mirtarbase database.
415
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9Y6W3 | |||||||||||||||||||||||||
| Protein name | Calpain-7 (EC 3.4.22.-) (PalB homolog) (PalBH) | |||||||||||||||||||||||||
| Protein function | Calcium-regulated non-lysosomal thiol-protease. | |||||||||||||||||||||||||
| PDB | 2QFE , 8UC6 | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous. | |||||||||||||||||||||||||
| Sequence |
MDATALERDAVQFARLAVQRDHEGRYSEAVFYYKEAAQALIYAEMAGSSLENIQEKITEY |
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| Sequence length | 813 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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Related Genes
Genes most often co-reported with CAPN7 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to CAPN7 (see Related Genes above), that are NOT already directly curated for CAPN7 itself -- a lead worth checking, not a confirmed association.
0
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