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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CAV3
caveolin 3
Chromosome 3 Β· 3p25.3
NCBI Gene: 859Ensembl: ENSG00000182533.7HGNC: HGNC:1529UniProt: P56539
149PubMed Papers
26Diseases
0Drugs
26Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of cardiac muscle contractionplasma membranenegative regulation of calcium ion transporttransmembrane transporter bindingrippling muscle disease 2long QT syndrome 9isolated asymptomatic elevation of creatine phosphokinasedistal myopathy
✦AI Summary

CAV3 encodes caveolin-3, a muscle-specific scaffolding protein essential for caveolae formation and muscle membrane integrity. The protein mediates recruitment of CAVIN2 and CAVIN3 proteins to caveolae and plays a critical role in sarcolemma repair mechanisms in both skeletal muscle and cardiomyocytes 1. CAV3 mutations cause a spectrum of muscle disorders collectively termed caveolinopathies, including rippling muscle disease (RMD), limb-girdle muscular dystrophy, and hyperCKemia 23. In CAV3-related RMD, the disease manifests with muscle hyperexcitability, rippling contractions, and variable phenotypes ranging from asymptomatic creatine kinase elevation to severe weakness 2. Most CAV3 mutations follow autosomal dominant inheritance, though recessive forms exist 2. Muscle biopsies from CAV3-RMD patients typically show absent or diffusely reduced caveolin-3 immunoreactivity 2. While CAV3 mutations are associated with various neuromuscular phenotypes including hyperCKemia and limb-girdle muscular dystrophy, studies have not consistently demonstrated involvement in cardiomyopathies 3. The protein's role in membrane repair and caveolae assembly makes it crucial for maintaining muscle fiber integrity under mechanical stress.

Sources cited
1
CAV3 mediates recruitment of CAVIN2 and CAVIN3 proteins to caveolae
PMID: 19262564
2
CAV3 mutations cause rippling muscle disease with variable phenotypes, muscle hyperexcitability, and typically show autosomal dominant inheritance
PMID: 39370631
3
CAV3 mutations are associated with limb-girdle muscular dystrophy and hyperCKemia, but no evidence found for involvement in cardiomyopathies
PMID: 25630502
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜26
rippling muscle disease 2Open Targets
0.82Strong
long QT syndrome 9Open Targets
0.74Strong
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.73Strong
distal myopathyOpen Targets
0.71Strong
Elevated circulating creatine kinase concentrationOpen Targets
0.63Moderate
sudden infant death syndromeOpen Targets
0.61Moderate
hypertrophic cardiomyopathy 1Open Targets
0.61Moderate
limb-girdle muscular dystrophyOpen Targets
0.56Moderate
Prolonged QT intervalOpen Targets
0.56Moderate
rippling muscle diseaseOpen Targets
0.56Moderate
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.53Moderate
familial hypertrophic cardiomyopathyOpen Targets
0.52Moderate
Romano-Ward syndromeOpen Targets
0.48Moderate
Autosomal dominant limb-girdle muscular dystrophy type 1COpen Targets
0.46Moderate
caveolinopathyOpen Targets
0.46Moderate
hypertrophic cardiomyopathyOpen Targets
0.41Moderate
Abnormality of the cardiovascular systemOpen Targets
0.41Moderate
familial long QT syndromeOpen Targets
0.41Moderate
Qualitative or quantitative defects of caveolin-3Open Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.34Weak
Cardiomyopathy, familial hypertrophicUniProt
HyperCKmiaUniProt
Long QT syndrome 9UniProt
Myopathy, distal, Tateyama typeUniProt
Rippling muscle disease 2UniProt
Sudden infant death syndromeUniProt
Pathogenic Variants26
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)Pathogenic
Rippling muscle disease 2|Elevated circulating creatine kinase concentration|not provided|Long QT syndrome|Cardiovascular phenotype|Myopathy with tubular aggregates
β˜…β˜…β˜†β˜†2025β†’ Residue 46
NM_033337.3(CAV3):c.213G>A (p.Trp71Ter)Pathogenic
Long QT syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 71
NM_033337.3(CAV3):c.114+2T>CPathogenic
not provided|Long QT syndrome|Hypertrophic cardiomyopathy 1;Rippling muscle disease 2;Distal myopathy, Tateyama type;Elevated circulating creatine kinase concentration;Long QT syndrome 9
β˜…β˜…β˜†β˜†2021
NM_033337.3(CAV3):c.256del (p.Leu86fs)Pathogenic
Long QT syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 86
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly)Pathogenic
not provided|Long QT syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 27
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)Pathogenic
Rippling muscle disease 2|not provided|Long QT syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 105
NM_033337.3(CAV3):c.128A>G (p.Asp43Gly)Likely pathogenic
Rippling muscle disease 2
β˜…β˜†β˜†β˜†2024β†’ Residue 43
NM_033337.3(CAV3):c.196_197insTT (p.Thr66fs)Pathogenic
Long QT syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 66
NM_033337.3(CAV3):c.263G>A (p.Trp88Ter)Pathogenic
Long QT syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 88
NM_033337.3(CAV3):c.79C>T (p.Arg27Ter)Pathogenic
Long QT syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 27
NM_033337.3(CAV3):c.183C>A (p.Ser61Arg)Likely pathogenic
not provided|CAV3-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 61
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)Pathogenic
Distal myopathy, Tateyama type|Long QT syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 33
NM_033337.3(CAV3):c.99C>A (p.Asn33Lys)Pathogenic
Long QT syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 33
NM_033337.3(CAV3):c.154_155dup (p.Ser53fs)Likely pathogenic
Abnormality of the musculature
β˜…β˜†β˜†β˜†2021β†’ Residue 53
NM_033337.3(CAV3):c.84C>G (p.Asp28Glu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 28
NM_033337.3(CAV3):c.299T>A (p.Ile100Asn)Likely pathogenic
Hypertrophic cardiomyopathy 1;Elevated circulating creatine kinase concentration;Long QT syndrome 9;Rippling muscle disease 2;Distal myopathy, Tateyama type
β˜…β˜†β˜†β˜†2019β†’ Residue 100
NC_000003.12:g.(?_8733867)_(8745877_?)delPathogenic
Long QT syndrome
β˜…β˜†β˜†β˜†2019
NM_033337.3(CAV3):c.366dup (p.Leu123fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 123
NM_033337.3(CAV3):c.137C>T (p.Ala46Val)Likely pathogenic
Rippling muscle disease 2|not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 46
NM_033337.3(CAV3):c.251T>C (p.Leu84Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2014β†’ Residue 84
View on ClinVar β†—
Related Genes
CACNA1BProtein interaction100%CACNA1EProtein interaction100%CAV2Protein interaction100%ANXA6Protein interaction99%TRIM72Protein interaction99%KCNJ5Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Lung
4%
Brain
0%
Ovary
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CAV3CACNA1BCACNA1ECAV2ANXA6TRIM72KCNJ5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P56539
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.06LoF Tolerant
pLIβ“˜
0.04Tolerant
Observed/Expected LoF0.57 [0.32–1.06]
RankingsWhere CAV3 stands among ~20K protein-coding genes
  • #3,033of 20,598
    Most Researched149 Β· top quartile
  • #1,937of 5,498
    Most Pathogenic Variants26
  • #10,717of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedCAV3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The spectrum of rippling muscle disease.
PMID: 39370631
Muscle Nerve Β· 2025
1.00
2
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
PMID: 33704440
Brain Β· 2021
0.90
3
The genetic basis of long QT and short QT syndromes: a mutation update.
PMID: 19862833
Hum Mutat Β· 2009
0.80
4
Ca
PMID: 36592228
Handb Exp Pharmacol Β· 2023
0.70
5
Targeting T-type/CaV3.2 channels for chronic pain.
PMID: 33422652
Transl Res Β· 2021
0.60