Gene: CAV1

Alternate names for this Gene: BSCL3|CGL3|LCCNS|MSTP085|PPH3|VIP21

Gene Summary: The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.

Gene is located in Chromosome: 7

Location in Chromosome : 7q31.2

Description of this Gene: caveolin 1

Type of Gene: protein-coding

rs1049334 in CAV1 gene and Atrial Fibrillation PMID 28416822 2017 Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.

PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 28416818 2017 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

PMID 22544366 2012 Meta-analysis identifies six new susceptibility loci for atrial fibrillation.

rs11773845 in CAV1 gene and Electrocardiogram: P-R interval PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 23139255 2012 Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.

PMID 30679814 2019 Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.

PMID 25035420 2014 Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.

PMID 20062060 2010 Genome-wide association study of PR interval.

PMID 29127183 2018 Genome-wide association study of PR interval in Hispanics/Latinos identifies novel locus at ID2.

PMID 20062063 2010 Several common variants modulate heart rate, PR interval and QRS duration.

PMID 30046033 2018 PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

rs797044871 in CAV1 gene and Lipodystrophy, Congenital Generalized, Type 3 PMID 25898808 2015 Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

rs13242816 in CAV1 gene and P wave duration (observable entity) PMID 28794112 2017 Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.

rs797044871 in CAV1 gene and PULMONARY HYPERTENSION, PRIMARY, 3 PMID 25898808 2015 Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

PMID 22474227 2012 Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.

rs9920 in CAV1 gene and QT interval feature (observable entity) PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

rs9920 in CAV1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.