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 act upstream of or within sarcomere organization. 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 |
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