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
362791792023The T-type calcium channel Ca V 3.2 regulates bladder afferent responses to mechanical stimuli.3
369895242023Differential Expression of Caveolin-3, Suppression of Tumorigenicity 2, and Growth Differentiation Factor-15 Genes and Their Association with Acute Myocardial Infarction: A Cross-Sectional Study in a Multi-Specialty Hospital in Tamil Nadu.0
376596762023Genetic Defect in Submucosal Gland-Associated Caveolin-3: A New Paradigm in Esophageal Adenocarcinoma Risk.1
362791792023The T-type calcium channel Ca V 3.2 regulates bladder afferent responses to mechanical stimuli.3
369895242023Differential Expression of Caveolin-3, Suppression of Tumorigenicity 2, and Growth Differentiation Factor-15 Genes and Their Association with Acute Myocardial Infarction: A Cross-Sectional Study in a Multi-Specialty Hospital in Tamil Nadu.0
376596762023Genetic Defect in Submucosal Gland-Associated Caveolin-3: A New Paradigm in Esophageal Adenocarcinoma Risk.1
353780812022Caveolin-3 prevents swelling-induced membrane damage via regulation of I(Cl,swell) activity.2
353780812022Caveolin-3 prevents swelling-induced membrane damage via regulation of I(Cl,swell) activity.2
334869682021Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes.13
334869682021Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes.13
320049872020A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble.5
321098452020Caveolin proteins electrochemical oxidation and interaction with cholesterol.4
332280262020A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.18
320049872020A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble.5
321098452020Caveolin proteins electrochemical oxidation and interaction with cholesterol.4

Citation

Dessen P

CAV3 (caveolin 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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