Property Summary

NCBI Gene PubMed Count 106
Grant Count 171
R01 Count 111
Funding $23,313,381.67
PubMed Score 355.39
PubTator Score 267.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.521 0.002
psoriasis -1.900 0.000

Synonym

Accession P56539 A8K777 Q3T1A4
Symbols LQT9
VIP21
LGMD1C
VIP-21

Gene

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.
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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).
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