Property Summary

NCBI Gene PubMed Count 106
PubMed Score 355.39
PubTator Score 267.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.521 1.5e-03
psoriasis -1.900 4.0e-20

Gene RIF (71)

PMID Text
26859249 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.
26185955 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.
26086601 MURC/cavin-4, especially in combination with Cav-3, may play a consistent role in the differentiation process of rhabdomyosarcoma.
25757662 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.
25630502 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
24917393 detrimental effect of Cav-3 V82I variant on cell viability may participate in determining the susceptibility to cardiac death.
24327205 our results indicate that inhibition of Cav3 currents by 5,6-epoxyeicosatrienoic acid is an important mechanism controlling the vascular tone.
24021552 The caveolin-3:p.T78M did not exhibit a long-QT syndrome phenotype.
23640888 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.
23541953 Cav3 is an important negative regulator for cardiac late sodium cutrrent via nNOS dependent direct S-nitrosylation of SCN5A.
23465283 A very high prevalence of previously SIDS-associated variants was identified in exome data from population studies.
23311301 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
23237801 These results strongly suggest that cav3 possesses direct interaction with KCa1.1, presumably at the same domain for cav1 binding.
23071107 Multiple caveolin-3 nonamers bind to a single RyR1 homotetramer.
22879586 hERG expression in the plasma membrane is regulated by Cav3 via Nedd4-2
22236542 Stromal caveolin-3 expression were more frequent in anaplastic carcinoma and diffuse sclerosing variant of papillary carcinoma compared to conventional papillary thyroid carcinoma.
21496630 -3 defects lead to four distinct skeletal muscle disease phenotypes: limb-girdle muscular dystrophy, rippling muscle disease, distal myopathy, and hyperCKemia[review]
21362625 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
21362533 Caveolin 3 expression was decreased in an animal model of left ventricular dysfunction and heart failure.
21294223 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.
21084288 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.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20558763 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.
20472890 Results describe differential effects of the R26Q and P28L caveolin-3 mutants on growth factor signaling.
20346360 Observational study of gene-disease association. (HuGE Navigator)
20229577 Genetic analysis revealed a CAV3 c.G136A transition resulting in an A46T missense mutation in a family with rippling muscle disease.
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19773168 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.
19584897 Review addresses caveolin-3 biological functions in muscle cells and describes the muscle and heart disease phenotypes associated with caveolin-3 mutations[REVIEW]
19544087 Caveolin-3 (Cav3) is a new Cx43-interacting protein.
19481058 caveolin-3 negatively regulates Kir6.2/SUR2A channel function.
19380584 Molecular complex formed by MG53, dysferlin, and Cav3 is essential for repair of muscle membrane damage in muscular dystrophy.
19238754 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.
19219452 Cav-3 levels were unchanged from the resting levels after both exercise trials in deltoid
19101541 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.
18930476 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.
18671188 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.
18583131 Two novel missense mutation in the CAV3 gene in Neuromuscul Disord.
18509671 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.
18487559 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.
18253147 Caveolin 3 missense mutations lead to different phenotypes in vivo and in vitro.
17615539 The presence of different caveolin isoforms in many cell types of the human retina, is reported.
17537631 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.
17524427 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.
17405141 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.
17307729 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.
17275750 the first molecular and functional evidence implicating CAV3 as a pathogenic basis of Sudden infant death syndrome
17210839 Observational study of gene-disease association. (HuGE Navigator)
17210839 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).
17060380 Reports of first CAV3 mutations in subjects with long-QT syndrome and functional data demonstrating gain-of-function increase in late sodium current.
17039257 caveolin-3 normally suppresses the myostatin-mediated signal
16770780 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.
16563233 Our findings suggest that caveolin exhibits growth inhibition in a Ca2+-dependent manner, most likely through PKC, in cardiac myoblasts.
16521037 CAV3 identified and immunolocalized in the caveola-vesicle complexes (CVC )present in erythrocytes infected with P. vivax
16479074 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.
16247063 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.
16082247 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
15099591 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.
14981167 Review. Caveolin-3 mutations can result in four distinct, sometimes overlapping, muscle disease phenotypes: limb girdle muscular dystrophy, rippling muscle disease, distal myopathy, and hyperCKemia.
14749532 the importance of dysferlin-caveolin 3 relationship for skeletal muscle integrity
14729862 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
12939441 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.
12847114 Adenovirus-mediated overexpression of human caveolin-3 inhibits hypertrophic responses in rat cardiomyocytes.
12839838 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.
12666119 severe form of rippling muscle disease associated with homozygous CAV3 mutations.
12648214 caveolin-3 may play a role in lamellar granule assembly, trafficking, and/or function.
12387816 Effects of deleting a tripeptide sequence observed in muscular dystrophy patients on the conformation of peptides corresponding to the scaffolding domain of caveolin-3.
12082049 P28L mutation in the CAV-3 gene and the consequent caveolin-3 deficiency is associated with elevated serum kreatine kinase levels.
11884389 A naturally occurring caveolin-3 mutation can inhibit signaling involving cholesterol-sensitive raft domains.
11805270 A heterozygous 80 G-->A substitution in the caveolin-3 gene is associated with sporadic distal myopathy

AA Sequence

MMAEEHTDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKY      1 - 70
WCYRLLSTLLGVPLALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCIRTFCNPLFAALGQVC     71 - 140
SSIKVVLRKEV                                                               141 - 151
//

Text Mined References (107)

PMID Year Title
26859249 2016 Topologically Diverse Human Membrane Proteins Partition to Liquid-Disordered Domains in Phase-Separated Lipid Vesicles.
26185955 2015 Caveolinopathies in Greece.
26086601 2015 MURC/cavin-4 Is Co-Expressed with Caveolin-3 in Rhabdomyosarcoma Tumors and Its Silencing Prevents Myogenic Differentiation in the Human Embryonal RD Cell Line.
25757662 2015 The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
25630502 2015 CAV3 gene sequence variations: National Genome Database and clinics.
25556234 2015 New host factors important for respiratory syncytial virus (RSV) replication revealed by a novel microfluidics screen for interactors of matrix (M) protein.
24917393 2014 Identification and functional analysis of a new putative caveolin-3 variant found in a patient with sudden unexplained death.
24327205 2014 5,6-EET potently inhibits T-type calcium channels: implication in the regulation of the vascular tone.
24021552 2013 The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
23640888 2013 The interaction of caveolin 3 protein with the potassium inward rectifier channel Kir2.1: physiology and pathology related to long qt syndrome 9 (LQT9).
23541953 2013 Caveolin-3 suppresses late sodium current by inhibiting nNOS-dependent S-nitrosylation of SCN5A.
23465283 2013 Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.
23311301 2013 Molecular and functional evidence of HCN4 and caveolin-3 interaction during cardiomyocyte differentiation from human embryonic stem cells.
23237801 2013 Direct molecular interaction of caveolin-3 with KCa1.1 channel in living HEK293 cell expression system.
23071107 2012 Characterization of the molecular architecture of human caveolin-3 and interaction with the skeletal muscle ryanodine receptor.
22879586 2012 Cell surface expression of human ether-a-go-go-related gene (hERG) channels is regulated by caveolin-3 protein via the ubiquitin ligase Nedd4-2.
22792322 2012 The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome.
22236542 2012 Expression of caveolin-1, caveolin-2 and caveolin-3 in thyroid cancer and stroma.
21496630 2011 Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders.
21362625 2011 Caveolin-3 undergoes SUMOylation by the SUMO E3 ligase PIASy: sumoylation affects G-protein-coupled receptor desensitization.
21362533 2011 Left ventricular dysfunction in murine models of heart failure and in failing human heart is associated with a selective decrease in the expression of caveolin-3.
21294223 2011 Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.
21084288 2011 Caveolin-3 regulates protein kinase A modulation of the Ca(V)3.2 (alpha1H) T-type Ca2+ channels.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20558763 2010 Effects of cholesterol on CCK-1 receptors and caveolin-3 proteins recycling in human gallbladder muscle.
20472890 2010 Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.
20346360 2010 Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
20229577 2010 Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19773168 2009 Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
19584897 2010 Caveolinopathies: from the biology of caveolin-3 to human diseases.
19544087 2010 Connexin43 interacts with Caveolin-3 in the heart.
19481058 2009 Caveolin-3 negatively regulates recombinant cardiac K(ATP) channels.
19380584 2009 Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.
19238754 2008 Caveolin-3 associates with and affects the function of hyperpolarization-activated cyclic nucleotide-gated channel 4.
19219452 2009 Caveolin, GLUT4 and insulin receptor protein content in human arm and leg muscles.
19101541 2009 Plasma membrane removal in rat skeletal muscle fibers reveals caveolin-3 hot-spots at the necks of transverse tubules.
18936328 2008 Cardiac-specific overexpression of caveolin-3 induces endogenous cardiac protection by mimicking ischemic preconditioning.
18930476 2009 Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
18671188 2008 Thought ripples on muscle waves: recognition of rippling muscle disease.
18583131 2008 Caveolinopathy--new mutations and additional symptoms.
18509671 2008 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.
18487559 2008 Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.
18253147 2008 Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
17615539 2007 Different caveolin isoforms in the retina of melanoma malignum affected human eye.
17537631 2007 Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis.
17524427 2007 A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease.
17405141 2007 A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
17307729 2007 Role of caveolae in the pathogenesis of cholesterol-induced gallbladder muscle hypomotility.
17275750 2007 Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
17210839 2007 Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.
17060380 2006 Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
17039257 2006 Muscular atrophy of caveolin-3-deficient mice is rescued by myostatin inhibition.
16770780 2006 CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16563233 Caveolin-3 inhibits growth signal in cardiac myoblasts in a Ca2+-dependent manner.
16521037 2006 Caveolins and flotillin-2 are present in the blood stages of Plasmodium vivax.
16479074 2006 Evidence for cyclooxygenase-2 association with caveolin-3 in primary cultured rat chondrocytes.
16458928 2006 A new missense mutation in caveolin-3 gene causes rippling muscle disease.
16247063 2005 Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
16082247 2005 Caveolin-3 is a sensitive and specific marker for rhabdomyosarcoma.
15682833 2004 Caveolae localization and caveolin expressions in Schwann cells of mature rat spinal nerves.
15668980 2005 Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
15580566 2005 Molecular and muscle pathology in a series of caveolinopathy patients.
15564037 2004 Two novel CAV3 gene mutations in Japanese families.
15541368 2004 Junctophilin type 2 is associated with caveolin-3 and is down-regulated in the hypertrophic and dilated cardiomyopathies.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15099591 2004 A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
14981167 2004 Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.
14749532 2003 Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition.
14729862 2004 Sarcolemmal FAT/CD36 in human skeletal muscle colocalizes with caveolin-3 and is more abundant in type 1 than in type 2 fibers.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14672715 2004 Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.
14663034 2003 A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
14600260 2003 A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes.
12939441 2003 Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
12847114 2003 Adenovirus-mediated overexpression of caveolin-3 inhibits rat cardiomyocyte hypertrophy.
12839838 2003 Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.
12666119 2003 Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
12648214 2003 Caveolin expression and localization in human keratinocytes suggest a role in lamellar granule biogenesis.
12557291 2003 Consequences of a novel caveolin-3 mutation in a large German family.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12387816 2002 Effects of deleting a tripeptide sequence observed in muscular dystrophy patients on the conformation of synthetic peptides corresponding to the scaffolding domain of caveolin-3.
12082049 2002 Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.
11904769 2002 Localization of caveolin-3 in the sinus endothelial cells of the rat spleen.
11821059 2002 Evidence for cardiac sodium-calcium exchanger association with caveolin-3.
11805270 2002 Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
11756609 2001 A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
11532985 2001 The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
11431690 2001 Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
11251997 2001 Mutations in the caveolin-3 gene: When are they pathogenic?
11115849 2000 Caveolin-3 deficiency causes muscle degeneration in mice.
11001938 2000 Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.
10988290 2000 Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members.
10835421 2000 The basic helix-loop-helix transcription factors myogenin and Id2 mediate specific induction of caveolin-3 gene expression during embryonic development.
10746614 2000 Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
10386585 1999 Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome.
9756945 1998 Caveolin is an activator of insulin receptor signaling.
9545514 1998 Molecular cloning of human caveolin 3.
9537420 1998 Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
9536092 1998 Caveolin-3 in muscular dystrophy.
9374534 1997 Interaction of a receptor tyrosine kinase, EGF-R, with caveolins. Caveolin binding negatively regulates tyrosine and serine/threonine kinase activities.
9353265 1997 Interaction of neuronal nitric-oxide synthase with caveolin-3 in skeletal muscle. Identification of a novel caveolin scaffolding/inhibitory domain.
9252390 1997 Association of phosphofructokinase-M with caveolin-3 in differentiated skeletal myotubes. Dynamic regulation by extracellular glucose and intracellular metabolites.
8567687 1996 Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle.
7797570 1995 Evidence for a regulated interaction between heterotrimeric G proteins and caveolin.