Property Summary

NCBI Gene PubMed Count 106
PubMed Score 355.39
PubTator Score 267.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

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

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA EggNOG
Xenopus OMA Inparanoid
Xenopus OMA EggNOG

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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