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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 large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
CAPN2 (Calpain 2) is a Protein Coding gene. Diseases associated with CAPN2 include Nuclear Senile Cataract and Machado-Joseph Disease. Among its related pathways are Neuroscience and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is CAPN1.
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 | IDA,ISS | -- |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 10639123 |
GO:0008092 | cytoskeletal protein binding | NAS | 12150984 |
GO:0008233 | peptidase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IBA,ISS | -- |
GO:0005758 | mitochondrial intermembrane space | IEA | -- |
GO:0005764 | lysosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | nNOS Signaling in Skeletal Muscle |
nNOS Signaling in Skeletal Muscle
.37
Caspase Cascade
.36
|
Calpain Protease Regulates Cellular Mechanics
.31
|
2 | Focal Adhesion |
.61
|
|
3 | Degradation of the extracellular matrix | ||
4 | Neurodegenerative Diseases | ||
5 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0001824 | blastocyst development | IEA | -- |
GO:0006508 | proteolysis | IBA,ISS | -- |
GO:0007520 | myoblast fusion | IEA | -- |
GO:0007565 | female pregnancy | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calpeptin | Pharma | Ca2+-dependent protease,calpain inhibitor, Calpain and cathepsin L inhibitor | 0 | |||
MDL 28170 | Pharma | Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor | 0 | |||
Calcium | Nutra | 6556 | ||||
Acetyl-Calpastatin (184-210) (human) | Pharma | Calpain I/II inhibitor | 0 | |||
Calpain Inhibitor I, ALLN | Pharma | Calpain I/II/ B/L inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Acetyl-Calpastatin (184-210) (human) | Calpain I/II inhibitor | 123714-50-1 |
Calpain Inhibitor I, ALLN | Calpain I/II/ B/L inhibitor | 110044-82-1 |
Calpain Inhibitor II, ALLM | Calpain inhibitor | 136632-32-1 |
Calpeptin | Ca2+-dependent protease,calpain inhibitor | 117591-20-5 |
MDL 28170 | Calpain and cathepsin B inhibitor, selective | 88191-84-8 |
PD 151746 | calpain inhibitor, cell-permeable | 179461-52-0 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18a | · | 18b | · | 18c | ^ | 19a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 19b | · | 19c | ^ | 20a | · | 20b |
---|---|---|---|---|---|---|---|
SP1: | - | - | |||||
SP2: | - | - | |||||
SP3: | |||||||
SP4: | |||||||
SP5: | |||||||
SP6: | |||||||
SP7: | |||||||
SP8: | - | - | |||||
SP9: | |||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CAPN2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CAPN2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Capn2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Capn2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CAPN2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CAPN2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CAPN2 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CAPN2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CAPN2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | capn2.2 30 |
|
||
Str.4897 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68474 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CAPN2 (3 of 4) 31 |
|
OneToMany | |
capn2a 31 |
|
OneToMany | |||
capn2l 30 31 |
|
OneToMany | |||
capn2b 31 |
|
OneToMany | |||
-- 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5054 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CalpA 32 |
|
|
|
CalpB 32 |
|
|
|||
CalpC 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | clp-7 32 |
|
|
|
clp-6 32 |
|
|
|||
clp-3 32 |
|
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715900 | Benign: not provided | 223,712,784(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
717138 | Benign: not provided | 223,752,865(+) | C/T | SYNONYMOUS_VARIANT | |
719166 | Likely Benign: not provided | 223,745,429(+) | G/A | MISSENSE_VARIANT | |
758921 | Likely Benign: not provided | 223,772,227(+) | C/T | SYNONYMOUS_VARIANT | |
783017 | Benign: not provided | 223,772,189(+) | A/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759000 | CNV | gain+loss | 17122850 |
esv3307033 | CNV | mobile element insertion | 20981092 |
esv3310267 | CNV | mobile element insertion | 20981092 |
esv3402894 | CNV | insertion | 20981092 |
esv34082 | CNV | loss | 18971310 |
nsv1133940 | CNV | deletion | 24896259 |
nsv437346 | CNV | loss | 16327808 |
nsv4698 | CNV | insertion | 18451855 |
nsv520609 | CNV | loss | 19592680 |
nsv521758 | CNV | loss | 19592680 |
nsv832681 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nuclear senile cataract |
|
|
machado-joseph disease |
|
|
inflammatory bowel disease 15 |
|
|
alzheimer disease |
|
|
muscular dystrophy |
|