Gene

capn3b

ID
ZDB-GENE-041001-149
Name
calpain 3b
Symbol
capn3b Nomenclature History
Previous Names
  • si:dkey-12h9.9
Type
protein_coding_gene
Location
Chr: 20 Mapping Details/Browsers
Description
Predicted to have calcium-dependent cysteine-type endopeptidase activity. Involved in protein catabolic process. Predicted to localize to cytoplasm. Is expressed in brain; intestine; liver; and muscle. 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
Expression
All Expression Data
6 figures from 5 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With capn3b Human Ortholog
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
Associated With capn3b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR000169 Cysteine peptidase, cysteine active 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
Family IPR029531 Calpain-3
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-3 Calpain large subunit, domain III superfamily Calpain subdomain III Cysteine peptidase, cysteine active 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:E9QE31 723
UniProtKB:A0A2R8Q1U8 715
UniProtKB:F1R632 719
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-capn3b monoclonal Mouse
  • IHC
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations