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
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
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 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:A0A2R8Q1U8 715
UniProtKB:E9QE31 723
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
Ensembl Gene Tree
Citations