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 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. 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). Is expressed in several structures, including adaxial cell; heart; musculature system; notochord; and pectoral fin. Orthologous to human CAV3 (caveolin 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure 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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations