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 have connexin binding activity; ion channel binding activity; and molecular adaptor activity. Involved in muscle cell fate commitment; notochord cell development; and striated muscle cell differentiation. Localizes to sarcolemma. Predicted to colocalize with caveola and focal adhesion. 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
Expression
All Expression Data
9 figures from 4 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
Fig. 2 from Hippe et al., 2011
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cav3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
distal muscular dystrophy 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
Associated With cav3 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018361 Caveolin, conserved site
Family IPR001612 Caveolin
Family IPR031091 Caveolin-3
Domain Details Per Protein
Protein Length Caveolin Caveolin-3 Caveolin, conserved site
UniProtKB:Q6YLH7 150
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations