Gene
capn3a
- ID
- ZDB-GENE-040912-97
- Name
- calpain 3a, (p94)
- Symbol
- capn3a Nomenclature History
- Previous Names
-
- capn3
- zgc:92687
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable calcium-dependent cysteine-type endopeptidase activity. Predicted to be involved in negative regulation of apoptotic process and proteolysis. Predicted to be active in cytoplasm. Is expressed in several structures, including brain; endoderm; lens; liver; and solid lens vesicle. Human ortholog(s) of this gene implicated in autosomal dominant limb-girdle muscular dystrophy; autosomal recessive limb-girdle muscular dystrophy type 2A; and muscular dystrophy. Orthologous to human CAPN3 (calpain 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92687 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Ma et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2A | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 1 | 253600 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 618129 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR000169 | Cysteine peptidase, cysteine active site |
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR001300 | Peptidase C2, calpain, catalytic domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR022682 | Peptidase C2, calpain, large subunit, domain III |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Calpain large subunit, domain III superfamily | Calpain subdomain III | Cysteine peptidase, cysteine active site | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | Papain-like cysteine peptidase superfamily | Peptidase C2, calpain, catalytic domain | Peptidase C2, calpain, domain III | Peptidase C2, calpain family | Peptidase C2, calpain, large subunit, domain III |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PNP6 | InterPro | 736 | |||||||||||
| UniProtKB:Q66HU4 | InterPro | 725 | |||||||||||
| UniProtKB:A0A8M6Z1H5 | InterPro | 733 | |||||||||||
| UniProtKB:A0A8M6YTT3 | InterPro | 721 | |||||||||||
| UniProtKB:A0A8M9PKP1 | InterPro | 724 |
1 - 5 of 6 Show all
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
capn3a-201
(1)
|
Ensembl | 3,218 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available