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

12 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6902906 (11 images)

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 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

Associated With cav3 Via Experimental Models

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

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR018361	Caveolin, conserved site
Family	IPR001612	Caveolin

Domain Details Per Protein

Protein	Length	Caveolin	Caveolin, conserved site
UniProtKB:Q6YLH7 InterPro	150

Transcripts

Genome Browsers

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	cav3-201 (1) Ensembl	Ensembl		1,017 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations