Gene
cav3
- ID
- ZDB-GENE-050522-426
- Name
- caveolin 3
- Symbol
- cav3 Nomenclature History
- Previous Names
-
- im:6902906
- zgc:109710
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable connexin binding activity; molecular adaptor activity; and transmembrane transporter binding activity. Acts upstream of or within muscle cell fate commitment; notochord cell development; and striated muscle cell differentiation. Located in sarcolemma. Is expressed in several structures, including adaxial cell; heart; musculature system; notochord; and pectoral fin. Used to study muscular dystrophy. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple); isolated elevated serum creatine phosphokinase levels; and muscle tissue disease (multiple). Orthologous to human CAV3 (caveolin 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6902906 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Hippe et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
distal myopathy Tateyama type | Alliance | Myopathy, distal, Tateyama type | 614321 |
hypertrophic cardiomyopathy 1 | Alliance | Cardiomyopathy, familial hypertrophic | 192600 |
isolated elevated serum creatine phosphokinase levels | Alliance | Creatine phosphokinase, elevated serum | 123320 |
long QT syndrome 9 | Alliance | Long QT syndrome 9 | 611818 |
rippling muscle disease 2 | Alliance | Rippling muscle disease 2 | 606072 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
muscular dystrophy | WT + MO2-cav3 | standard conditions | Nixon et al., 2005 |
muscular dystrophy | WT + MO1-cav3 | standard conditions | Nixon et al., 2005 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Caveolin | Caveolin, conserved site |
---|---|---|---|
UniProtKB:Q6YLH7
|
150 |
Interactions and Pathways
No data available
Plasmids