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

Expression

All Expression Data

13 figures from 5 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

MGC:92687 (6 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from Ma et al., 2019
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With capn3a 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 capn3a 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
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 InterPro	736
UniProtKB:Q66HU4 InterPro	725
UniProtKB:A0A8M6Z1H5 InterPro	733
UniProtKB:A0A8M6YTT3 InterPro	721
UniProtKB:A0A8M9PKP1 InterPro	724
UniProtKB:A0A8M6YVL1 InterPro	713

Transcripts

Genome Browsers

NCBI

No data available

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations