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 have calcium ion binding activity and calcium-dependent cysteine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to localize to cytoplasm. 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. Is expressed in several structures, including brain; endoderm; lens; liver; and solid lens vesicle. 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 |
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 |
| Domain | IPR022683 | Peptidase C2, calpain, domain III |
| Domain | IPR033883 | Calpain subdomain III |
| Family | IPR022684 | Peptidase C2, calpain family |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR036213 | Calpain large subunit, domain III superfamily |
| Homologous_superfamily | IPR038765 | Papain-like cysteine peptidase superfamily |
Domain Details Per Protein
| Protein | 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
|
736 | |||||||||||
|
UniProtKB:Q66HU4
|
725 | |||||||||||
|
UniProtKB:A0A8M6Z1H5
|
733 | |||||||||||
|
UniProtKB:A0A8M6YTT3
|
721 | |||||||||||
|
UniProtKB:A0A8M9PKP1
|
724 | |||||||||||
|
UniProtKB:A0A8M6YVL1
|
713 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
capn3a-201
(1)
|
Ensembl | 3,218 nt |
Interactions and Pathways
No data available
Plasmids
No data available