CAV3 Chromosome 3
Caveolin 3
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What This Gene Does
This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Caveolins
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000182533
Associated Conditions (22)
Caveolinopathy
Long QT syndrome
CAV3-related disorder
Cardiomyopathy
Long QT syndrome 1
Cardiovascular phenotype
See cases
Rippling muscle disease 2
Limb-girdle muscular dystrophy
Hypertrophic cardiomyopathy 1
Elevated circulating creatine kinase concentration
Distal myopathy
Tateyama type
Long QT syndrome 9
autosomal recessive
Long QT syndrome 2/9
digenic
Hypertrophic cardiomyopathy
Abnormality of the musculature
Myopathy with tubular aggregates
+2 more conditions
Key Variants
RS1052106103
Conflicting classifications of pathogenicity
Caveolinopathy, Caveolinopathy
Health Risk
RS1060502318
Conflicting classifications of pathogenicity
Long QT syndrome, CAV3-related disorder, Long QT syndrome
Health Risk
RS112626848
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiomyopathy, Long QT syndrome 1
Health Risk
RS116840776
Conflicting classifications of pathogenicity
Rippling muscle disease 2, Limb-girdle muscular dystrophy, Cardiovascular phenotype
Health Risk
RS116840778
Conflicting classifications of pathogenicity
Elevated circulating creatine kinase concentration, Rippling muscle disease 2, Distal myopathy
Health Risk
RS116840795
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1182984115
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS121909281
Conflicting classifications of pathogenicity
Long QT syndrome 9, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS139786391
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS140575619
Conflicting classifications of pathogenicity
Long QT syndrome, Caveolinopathy, Cardiomyopathy
Health Risk
RS147250678
Conflicting classifications of pathogenicity
Cardiomyopathy, Long QT syndrome, Caveolinopathy
Health Risk
RS148846096
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, CAV3-related disorder
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1052106103 | Health Risk | Conflicting classifications of pathogenicity | Caveolinopathy, Caveolinopathy |
| RS1060502318 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, CAV3-related disorder, Long QT syndrome |
| RS112626848 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiomyopathy, Long QT syndrome 1 |
| RS116840776 | Health Risk | Conflicting classifications of pathogenicity | Rippling muscle disease 2, Limb-girdle muscular dystrophy, Cardiovascular phenotype |
| RS116840778 | Health Risk | Conflicting classifications of pathogenicity | Elevated circulating creatine kinase concentration, Rippling muscle disease 2, Distal myopathy |
| RS116840795 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiomyopathy, Cardiovascular phenotype |
| RS1182984115 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS121909281 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 9, Cardiovascular phenotype, Cardiomyopathy |
| RS139786391 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS140575619 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Caveolinopathy, Cardiomyopathy |
| RS147250678 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Long QT syndrome, Caveolinopathy |
| RS148846096 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, CAV3-related disorder |
| RS199476325 | Health Risk | Conflicting classifications of pathogenicity | Rippling muscle disease 2, Long QT syndrome, Cardiomyopathy |
| RS199476337 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome |
| RS201593267 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Caveolinopathy |
| RS2124988641 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Hypertrophic cardiomyopathy 1, Long QT syndrome |
| RS28936686 | Health Risk | Conflicting classifications of pathogenicity | Rippling muscle disease 2, autosomal recessive, Long QT syndrome |
| RS372754279 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS559206877 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Long QT syndrome, Cardiovascular phenotype |
| RS72546668 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome 2/9, digenic, Long QT syndrome 9 |
| RS72546669 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiomyopathy, Long QT syndrome |
| RS730880422 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Caveolinopathy, Long QT syndrome |
| RS753959620 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, CAV3-related disorder |
| RS769859957 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, CAV3-related disorder |
| RS772475990 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiomyopathy |
| RS773934743 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiomyopathy, Cardiovascular phenotype |
| RS778914298 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Elevated circulating creatine kinase concentration, Cardiovascular phenotype |
| RS780870487 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Cardiovascular phenotype, Long QT syndrome |
| RS794727305 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome |
| RS867194464 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype |
| RS886039325 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Long QT syndrome |
| RS934971470 | Health Risk | Conflicting classifications of pathogenicity | Caveolinopathy, Caveolinopathy |
| RS116840773 | Health Risk | Likely pathogenic | Rippling muscle disease 2, Rippling muscle disease 2 |
| RS116840782 | Health Risk | Likely pathogenic | Rippling muscle disease 2, Rippling muscle disease 2 |
| RS116840796 | Health Risk | Likely pathogenic | CAV3-related disorder, CAV3-related disorder |
| RS1553614449 | Health Risk | Likely pathogenic | — |
| RS1559654264 | Health Risk | Likely pathogenic | Rippling muscle disease 2, Rippling muscle disease 2 |
| RS1708139265 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 1, Elevated circulating creatine kinase concentration, Long QT syndrome 9 |
| RS2124988278 | Health Risk | Likely pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS730880420 | Health Risk | Likely pathogenic | — |
| RS796052171 | Health Risk | Likely pathogenic | Long QT syndrome, Long QT syndrome |
| RS1008642 | Health Risk | Pathogenic | Distal myopathy, Tateyama type, Long QT syndrome |
| RS104893713 | Health Risk | Pathogenic | Long QT syndrome 9, Long QT syndrome 9 |
| RS104893715 | Health Risk | Pathogenic | Long QT syndrome 9, Long QT syndrome 9 |
| RS116840787 | Health Risk | Pathogenic | Long QT syndrome, Distal myopathy, Tateyama type |
| RS116840805 | Health Risk | Pathogenic | Rippling muscle disease 2, Long QT syndrome, Rippling muscle disease 2 |
| RS199476324 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome, Long QT syndrome |
| RS199476331 | Health Risk | Pathogenic | Rippling muscle disease 2, Rippling muscle disease 2 |
| RS2470062110 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |
| RS2470062381 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome |