ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable molecular adaptor activity and transmembrane transporter binding activity. Acts upstream of or within muscle cell differentiation and notochord cell development. 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 | Additional Resources | Length | Caveolin | Caveolin, conserved site |
|---|---|---|---|---|
| UniProtKB:Q6YLH7 | InterPro | 150 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
- Genome Browsers