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Gene Gene information from NCBI Gene database.
Entrez ID 827
Gene name Calpain 6
Gene symbol CAPN6
Synonyms (NCBI Gene)
CANPXCAPNXCalpMDJ914P14.1
Chromosome X
Chromosome location Xq23
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
miRNA miRNA information provided by mirtarbase database.
100 Show/Hide all (100)
miRTarBase ID miRNA Experiments Reference
MIRT725610 hsa-miR-670-3p HITS-CLIP 19536157
MIRT725609 hsa-miR-4687-5p HITS-CLIP 19536157
MIRT725608 hsa-miR-4690-3p HITS-CLIP 19536157
MIRT725607 hsa-miR-5685 HITS-CLIP 19536157
MIRT725606 hsa-miR-4667-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
FOXD3 Unknown 21255642
POU2F1 Unknown 21255642
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18 Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0001578 Process Microtubule bundle formation IEA
GO:0001578 Process Microtubule bundle formation ISS
GO:0004198 Function Calcium-dependent cysteine-type endopeptidase activity IBA
GO:0004198 Function Calcium-dependent cysteine-type endopeptidase activity TAS 9503024
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300146 1483 ENSG00000077274
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6Q1
Protein name Calpain-6 (Calpain-like protease X-linked) (Calpamodulin) (CalpM)
Protein function Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 516 → 614 C2 domain Domain
PF00648 Peptidase_C2 27 → 341 Calpain family cysteine protease Family
PF01067 Calpain_III 358 → 487 Calpain large subunit, domain III Domain
Tissue specificity TISSUE SPECIFICITY: Expressed only in placenta.
Sequence
Sequence length 641
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Degradation of the extracellular matrix
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Prostate cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (11)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 33176622 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinosarcoma Carcinoma Pubtator 17291261 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Leiomyosarcoma Leiomyosarcoma Pubtator 17291261 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of liver Liver Cancer BEFREE 26375440
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26375440, 28454386, 30185659
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 26375440, 28454386, 30185659
★★★★★
★☆☆☆☆
Found in Text Mining only
Sarcoma Sarcoma Pubtator 17291261 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Sarcoma Sarcoma BEFREE 30185659
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma of the head and neck Carcinoma Of The Head And Neck BEFREE 28454386
★★★★★
★☆☆☆☆
Found in Text Mining only