CAV3 (caveolin 3)

2007-02-01  

Identity

HGNC
LOCATION
3p25.3
LOCUSID
ALIAS
LGMD1C,LQT9,MPDT,RMD2,VIP-21,VIP21

Other Information

Locus ID:

NCBI: 859
MIM: 601253
HGNC: 1529
Ensembl: ENSG00000182533

Variants:

dbSNP: 859
ClinVar: 859
TCGA: ENSG00000182533
COSMIC: CAV3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182533ENST00000343849P56539
ENSG00000182533ENST00000343849A0A024R2D8
ENSG00000182533ENST00000397368P56539
ENSG00000182533ENST00000397368A0A024R2D8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
Focal adhesionKEGGhsa04510
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Muscle contractionREACTOMER-HSA-397014
Smooth Muscle ContractionREACTOMER-HSA-445355
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
170603802006Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.157
193805842009Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.114
172108392007Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.106
172108392007Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.106
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
172757502007Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.65
195848972010Caveolinopathies: from the biology of caveolin-3 to human diseases.54
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
149811672004Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.36
170392572006Muscular atrophy of caveolin-3-deficient mice is rescued by myostatin inhibition.36

Citation

Dessen P

CAV3 (caveolin 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43996/cav3