Gene: CAV2

Alternate names for this Gene: CAV

Gene Summary: The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462).

Gene is located in Chromosome: 7

Location in Chromosome : 7q31.2

Description of this Gene: caveolin 2

Type of Gene: protein-coding

rs4727833 in CAV2 gene and Cardioembolic stroke PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs1052990 in CAV2 gene and Glaucoma, Open-Angle PMID 20835238 2010 Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

rs10249702 in CAV2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs10233003 in CAV2 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.