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CAPN8 (Calpain 8) is a Protein Coding gene. Diseases associated with CAPN8 include Isovaleric Acidemia and Methylmalonic Aciduria And Homocystinuria, Cblc Type. Among its related pathways are Degradation of the extracellular matrix and Apoptosis Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN2.
Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004198 | calcium-dependent cysteine-type endopeptidase activity | IEA,IBA | 21873635 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005794 | Golgi apparatus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Degradation of the extracellular matrix | ||
2 | Apoptosis Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA,IBA | 21873635 |
GO:0007586 | digestion | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Epoxomicin | Pharma | Proteasome inhibitor | 0 | |||
MG-132 | Pharma | Proteasome inhibitor, Cell permeable, reversible | 0 | |||
PSI | Pharma | Proteasome inhibitor | 0 | |||
Calcium | Nutra | 6876 | ||||
Calpeptin | Pharma | Ca2+-dependent protease,calpain inhibitor, Calpain and cathepsin L inhibitor | 0 |
Compound | Action | Cas Number |
---|---|---|
Epoxomicin | Proteasome inhibitor | 134381-21-8 |
MG-132 | Proteasome inhibitor, Cell permeable, reversible | 133407-82-6 |
PSI | Proteasome inhibitor | 158442-41-2 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Rat (Rattus norvegicus) |
Mammalia | Capn8 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Capn8 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CAPN8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MGC151839 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CAPN8 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CAPN8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CAPN8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CAPN8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | capn8 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | capn8 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | clp-1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4609 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv47e201 | CNV | deletion | 23290073 |
dgv48e201 | CNV | deletion | 23290073 |
dgv49e201 | CNV | deletion | 23290073 |
dgv50e201 | CNV | deletion | 23290073 |
esv1388923 | CNV | deletion | 17803354 |
esv1919956 | CNV | deletion | 18987734 |
esv2723417 | CNV | deletion | 23290073 |
esv2723473 | CNV | deletion | 23290073 |
esv2723495 | CNV | deletion | 23290073 |
esv2740896 | CNV | deletion | 23290073 |
esv2741351 | CNV | deletion | 23290073 |
esv2742948 | CNV | deletion | 23290073 |
esv27704 | CNV | loss | 19812545 |
esv34082 | CNV | loss | 18971310 |
esv3414527 | CNV | duplication | 20981092 |
esv3547344 | CNV | deletion | 23714750 |
esv3575717 | CNV | gain | 25503493 |
esv3588960 | CNV | gain | 21293372 |
nsv1126229 | CNV | deletion | 24896259 |
nsv474099 | CNV | novel sequence insertion | 20440878 |
nsv475163 | CNV | novel sequence insertion | 20440878 |
nsv475307 | CNV | novel sequence insertion | 20440878 |
nsv477673 | CNV | novel sequence insertion | 20440878 |
nsv478790 | CNV | novel sequence insertion | 20440878 |
nsv479023 | CNV | novel sequence insertion | 20440878 |
nsv479114 | CNV | novel sequence insertion | 20440878 |
nsv479266 | CNV | novel sequence insertion | 20440878 |
nsv479272 | CNV | novel sequence insertion | 20440878 |
nsv479392 | CNV | novel sequence insertion | 20440878 |
nsv479450 | CNV | novel sequence insertion | 20440878 |
nsv479737 | CNV | novel sequence insertion | 20440878 |
nsv479800 | CNV | novel sequence insertion | 20440878 |
nsv479801 | CNV | novel sequence insertion | 20440878 |
nsv479837 | CNV | novel sequence insertion | 20440878 |
nsv480006 | CNV | novel sequence insertion | 20440878 |
nsv480072 | CNV | novel sequence insertion | 20440878 |
nsv480187 | CNV | novel sequence insertion | 20440878 |
nsv480449 | CNV | novel sequence insertion | 20440878 |
nsv481088 | CNV | novel sequence insertion | 20440878 |
nsv481348 | CNV | novel sequence insertion | 20440878 |
nsv481361 | CNV | novel sequence insertion | 20440878 |
nsv481510 | CNV | novel sequence insertion | 20440878 |
nsv821216 | CNV | deletion | 20802225 |
nsv832681 | CNV | gain | 17160897 |
nsv945310 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
isovaleric acidemia |
|
|
methylmalonic aciduria and homocystinuria, cblc type |
|
|
canavan disease |
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|
ceroid lipofuscinosis, neuronal, 3 |
|
|
myoclonic epilepsy associated with ragged-red fibers |
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|