ZFIN ID: ZDB-GENE-050522-426
Gene Name: caveolin 3
Gene Symbol: cav3    Nomenclature History

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Previous Names: im:6902906, zgc:109710

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 6 Mapping Details/Browsers
Description: Predicted to have structural molecule activity. Involved in muscle cell fate commitment; notochord cell development; and striated muscle cell differentiation. Localizes to the sarcolemma. Predicted to colocalize with several cellular components, including the caveola; cytoplasm; 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: Alliance (1),  Gene:449679 (1),  Ensembl(GRCz11):ENSDARG00000024141 (1)
GENE EXPRESSION
All Expression Data: 9 figures from 4 publications
Directly Submitted Expression Data: 6 figures (11 images) from Thisse et al., 2004 [IMAGE:6902906]
Wild-type Stages, Structures: Segmentation:5-9 somites (11.66h-14.0h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
pd1149 Small Deletion Exon 1 Premature Stop CRISPR
Sequence Targeting Reagents
Targeting Reagent Created Alleles Publications
CRISPR1-cav3 3
CRISPR2-cav3
2
CRISPR3-cav3 1
MO1-cav3 N/A 4
MO2-cav3 N/A 1
PHENOTYPE No data available
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
DISEASE ASSOCIATED WITH cav3 VIA EXPERIMENTAL MODELS
Human Disease Fish Conditions Citations
muscular dystrophy WT + MO2-cav3 standard conditions Nixon et al., 2005
WT + MO1-cav3 standard conditions Nixon et al., 2005
GENE ONTOLOGY
Ontology GO Term
Biological Process notochord cell development (more)
Cellular Component sarcolemma (more)
Molecular Function ion channel binding (more)
GO Terms (all 20)
PROTEIN FAMILIES, DOMAINS AND SITES
Type InterPro ID Name
Family IPR001612 Caveolin
Conserved_site IPR018361 Caveolin, conserved site
Family IPR031091 Caveolin-3
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA cav3-201 (1)    Ensembl 1017
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM cav3
Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
Tg(cav3:cav3-GFP) cav3 cav3GFP Danio rerio 1 1
Tg(cav3:cav3_R26Q-GFP) cav3 cav3GFP Danio rerio 1 1
MARKER RELATIONSHIPS
cav3 Contained in: [BAC] DKEYP-111E5 (1)
cav3 Encodes: [EST] IMAGE:6902906 (1)
[cDNA] MGC:109710 (1), MGC:192070 (1)
SEQUENCE INFORMATION
Type Accession # Length (bp/aa) Analysis
RNA RefSeq:NM_205738 (1) 1037 bp
Genomic GenBank:BX664752 (1) 156503 bp
Select Tool
Polypeptide UniProtKB:Q6YLH7 (1) 150 aa
Sequence Information (all 17)
ORTHOLOGY for cav3 ( Chr: 6 )
CITATIONS (39)