CAPN3
Summary: Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namecalpain 3 OMIM IDMIM:114240 Ensembl IDEnsembl:ENSG00000092529 HGNC IDHGNC:HGNC:1480 PHARMGKB IDPA26061 Map Location15q15.1 | |||||
GO terms in CAPN3
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0003824 | catalytic activity |
| MF | IBA | GO:0004198 | calcium-dependent cysteine-type endopeptidase activity |
| MF | ISS | GO:0004198 | calcium-dependent cysteine-type endopeptidase activity |
| MF | TAS | GO:0004198 | calcium-dependent cysteine-type endopeptidase activity |
| MF | ISS | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: CAPN3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CAPN3
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP185 | Integrin-mediated Cell Adhesion |
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
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Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 2 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CAPN3
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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