Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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caveolin 3(CAV3) caveolin 3(CAV3) Related Genes Homo sapiens
CHROMOSOME 3,
CYTOBAND 3p25,
ENSEMBL_GENE_ID ENSG00000182533,
GENERIF_SUMMARY A heterozygous 80 G-->A substitution in the caveolin-3 gene is associated with sporadic distal myopathy, A naturally occurring caveolin-3 mutation can inhibit signaling involving cholesterol-sensitive raft domains., P28L mutation in the CAV-3 gene and the consequent caveolin-3 deficiency is associated with elevated serum kreatine kinase levels., Effects of deleting a tripeptide sequence observed in muscular dystrophy patients on the conformation of peptides corresponding to the scaffolding domain of caveolin-3., caveolin-3 may play a role in lamellar granule assembly, trafficking, and/or function., severe form of rippling muscle disease associated with homozygous CAV3 mutations., A haploinsufficiency model is proposed in which reduced levels of wild-type caveolin-3, although not rendered dysfunctional due to the caveolin-3 R26Q mutant protein, are insufficient for normal muscle cell function., Adenovirus-mediated overexpression of human caveolin-3 inhibits hypertrophic responses in rat cardiomyocytes., An R27Q missense mutation in the CAV3 gene can lead to various clinical phenotypes including hyper-CK-emia, rippling muscle disease, distal myopathy, and limb-girdle musclar dystrophy 1C., CD36 colocalizes with caveolin-3, suggesting that caveolae may regulate cellular fatty acid uptake by CD36. CD36 expression is higher in type 1 compared with type 2 fibers, whereas caveolin-3 expression is significantly higher in type 2 than in type 1, the importance of dysferlin-caveolin 3 relationship for skeletal muscle integrity, Review. Caveolin-3 mutations can result in four distinct, sometimes overlapping, muscle disease phenotypes, A muscle biopsy showed a partial reduction of caveolin-3 at the sarcolemma of muscle fibres.Mutational analysis identified a novel heterozygous mutation and generating a Val-->Met change at codon 57 of the amino acid chain., demonstrate that Cav-3 is specifically expressed in human cardiac and skeletal myocytes, with high specificity and relatively high sensitivity (88%) for tumors with skeletal muscle differentiation, The authors describe a family with autosomal dominant rippling muscle disease (RMD) and prominent early-onset toe walking. Molecular analysis revealed a novel heterozygous G > A transition at nucleotide position 136 in exon 2 of the caveolin-3 gene., The co-localization of Cav-3 with COX-2 in the caveolae suggests that the caveolins might play an important role for regulating the function of COX-2., CAV3 identified and immunolocalized in the caveola-vesicle complexes (CVC )present in erythrocytes infected with P. vivax, Our findings suggest that caveolin exhibits growth inhibition in a Ca2+-dependent manner, most likely through PKC, in cardiac myoblasts., Our findings contribute to the clarification of unexplained persistent hyper-CK-emia, but further research is needed before CAV3 gene mutation analysis becomes part of the routine evaluation of these patients., caveolin-3 normally suppresses the myostatin-mediated signal, Reports of first CAV3 mutations in subjects with long-QT syndrome and functional data demonstrating gain-of-function increase in late sodium current., We demonstrated that 9.5% of cases diagnosed as SIDS carry functionally significant genetic variants in LQTS genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CAV3)., the first molecular and functional evidence implicating CAV3 as a pathogenic basis of Sudden infant death syndrome, Cav-3 mediates defective gallbladder contraction in the presence of cholesterol stones. Increased expression of Cav-3 results in the sequestration of CCK-1 receptors in the caveolae, probably by inhibiting the functions of Galpha(i3) proteins., Molecular analysis revealed a novel heterozygous A>C transition at nucleotide position 140 in exon 2 of the caveolin-3 gene in 17-year-old patient with rippling muscle disease., We encountered a Korean male patient with RMD who had suffered from muscle stiffness for 3 years. Mutation analysis of the CAV3 gene revealed the patient to be heterozygous for a novel in-frame deletion mutation., This study describe a 39-year-old Japanese man with rippling muscle disease who carried a novel homozygous mutation (Trp70 to a stop codon) in the caveolin-3 gene., The presence of different caveolin isoforms in many cell types of the human retina, is reported., Caveolin 3 missense mutations lead to different phenotypes in vivo and in vitro., Here, we report the clinical, morphological and molecular analysis of a patient with autosomal-recessive RMD carrying two novel compound heterozygous CAV3 mutations that lead to a severe protein truncation., Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal muscle specifically alters the Ca(2+) channel function of the dihydropyridine receptor., Two novel missense mutation in the CAV3 gene in Neuromuscul Disord., Mutation analysis revealed a novel heterozygous missense mutation in the caveolin-3 gene (c.79C > G; p.Arg27Gly) in both the index patient diagnosed with rippling muscle disease and his mother fasely diagnosed with acid maltase deficiency., Genetic studies revealed a G --> A transition at nucleotide position 80 in exon 1 of the Cav-3 gene (c.80G>A), generating a Arg --> Gln change at codon 27 (p.R27Q) of the amino acid chain in heterozygous state in this case., Confocal immunofluorescence microscopy shows that caveolin-3 is present throughout the t-tubule system in skeletal muscle fibers, with 'hot-spots' at the necks of the tubules in the sub-sarcolemmal space., Cav-3 levels were unchanged from the resting levels after both exercise trials in deltoid, HCN4 associates with Cav3 to form a HCN4 macromolecular complex. Our results also indicated that disruption of caveolae using P104L alters HCN4 function and could cause a reduction of cardiac pacemaker activity., Molecular complex formed by MG53, dysferlin, and Cav3 is essential for repair of muscle membrane damage in muscular dystrophy., caveolin-3 negatively regulates Kir6.2/SUR2A channel function., Caveolin-3 (Cav3) is a new Cx43-interacting protein., Review addresses caveolin-3 biological functions in muscle cells and describes the muscle and heart disease phenotypes associated with caveolin-3 mutations[REVIEW], cardiac dysfunction in myopathic patients with CAV3 mutations(A46V)may be underestimated and recommend a more thorough evaluation for the presence of cardiomyopathy and potentially lethal arrhythmias., Genetic analysis revealed a CAV3 c.G136A transition resulting in an A46T missense mutation in a family with rippling muscle disease., Results describe differential effects of the R26Q and P28L caveolin-3 mutants on growth factor signaling., Impaired muscle contraction in gallbladders with cholesterol stones is due to high caveolar levels of cholesterol that inhibits CAV-3 generation; cholesterol increases the caveolar sequestration of CAV-3 and CCK-1R., functional modulation of the Ca(v)3.2 channels by Cav-3 is important for understanding the compartmentalized regulation of Ca(2+) signaling during normal and pathological processes., Detailed analysis of the voltage-dependence of Ca2+ transients revealed a significant shift of Ca2+ release activation to higher depolarization levels in CAV3 mutated cells., Caveolin 3 expression was decreased in an animal model of left ventricular dysfunction and heart failure., Cav-3 is SUMOylated in a manner that is enhanced by the SUMO E3 ligase PIASy; Cav-3 SUMOylation in the mechanisms for beta(2)AR but not beta(1)AR desensitization, -3 defects lead to four distinct skeletal muscle disease phenotypes, Stromal caveolin-3 expression were more frequent in anaplastic carcinoma and diffuse sclerosing variant of papillary carcinoma compared to conventional papillary thyroid carcinoma., hERG expression in the plasma membrane is regulated by Cav3 via Nedd4-2, Multiple caveolin-3 nonamers bind to a single RyR1 homotetramer., These results strongly suggest that cav3 possesses direct interaction with KCa1.1, presumably at the same domain for cav1 binding., data show a developmental change in HCN4-Cav3 association in human embryonic stem cell-derived cardiomyocytes. Cav3 expression and its association with ionic channels likely represent a crucial step of cardiac maturation, A very high prevalence of previously SIDS-associated variants was identified in exome data from population studies., Cav3 is an important negative regulator for cardiac late sodium cutrrent via nNOS dependent direct S-nitrosylation of SCN5A., Kir2.1 loss of function is additive to the increase in late sodium current, prolonging repolarization and leading to arrhythmia generation in Cav3-mediated long qt syndrome 9., The caveolin-3, our results indicate that inhibition of Cav3 currents by 5,6-epoxyeicosatrienoic acid is an important mechanism controlling the vascular tone., detrimental effect of Cav-3 V82I variant on cell viability may participate in determining the susceptibility to cardiac death., We identified three novel sequence variations (c.183C>G, p.S61R; c.220C>A, p.R74S; c.220C>T, p.R74C) and found evidence that one was associated with hypercreatine kinase-emia, In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes., MURC/cavin-4, especially in combination with Cav-3, may play a consistent role in the differentiation process of rhabdomyosarcoma., This study demonstrated that cav3 mutation in stinct disorders including limb-girdle muscular dystrophy 1C, rippling muscle disease, and isolated creatine kinase elevation in Greece., Data (including data from studies using recombinant proteins that lack typical in-vivo post-translational modifications such as palmitoylation) suggest Cav3 exhibits little tendency to partition into liquid-ordered domains of unilamellar vesicles.,
OFFICIAL_GENE_SYMBOL CAV3,
OMIM_DISEASE Creatine phosphokinase, elevated serum, Cardiomyopathy, familial hypertrophic, Rippling muscle disease, Muscular dystrophy, limb-girdle, type IC, Long QT syndrome 9, Myopathy, distal, Tateyama type,
SP_COMMENT caution:It is uncertain whether Met-1 or Met-2 is the initiator., disease:Defects in CAV3 are a cause of cardiomyopathy familial hypertrophic (CMH) [MIM:192600]; also designated FHC or HCM. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death., disease:Defects in CAV3 are a cause of hyperCKmia [MIM:123320]. It is a disease characterized by persistent elevated levels of serum creatine kinase without muscle weakness., disease:Defects in CAV3 are a cause of rippling muscle disease (RMD) [MIM:606072]. RMD is rare a disorder characterized by mechanically triggered contractions of skeletal muscle. In RMD, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle., disease:Defects in CAV3 are the cause of limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]. LGMD1C is a myopathy characterized by calf hypertrophy and mild to moderate proximal muscle weakness. LGMD1C inheritance can be autosomal dominant or recessive., disease:Defects in CAV3 are the cause of long QT syndrome type 9 (LQT9) [MIM:611818]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress. They can present with a sentinel event of sudden cardiac death in infancy., disease:Defects in CAV3 can be a cause of sudden infant death syndrome (SIDS) [MIM:272120]. SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. Long QT syndromes-associated mutations can be responsible for some SIDS cases., function:May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity., function:May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels., online information:Caveolin entry, online information:Caveolin-3/LGMD-1C page, similarity:Belongs to the caveolin family., subcellular location:Potential hairpin-like structure in the membrane. Membrane protein of caveolae., subunit:Homooligomer. Interacts with DLG1 and KCNA5; forms a ternary complex (By similarity). Interacts with DYSF., tissue specificity:Expressed predominantly in muscle.,