CAV2 caveolin 2
Gene ID: 858, updated on 19-Sep-2024Gene type: protein coding
Also known as: CAV
- See all available tests in GTR for this gene
- Go to complete Gene record for CAV2
- Go to Variation Viewer for CAV2 variants
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). [provided by RefSeq, May 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. GeneReviews: Not available | |
| Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. GeneReviews: Not available | |
| Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. GeneReviews: Not available | |
| Genome-wide association study of PR interval. GeneReviews: Not available | |
| Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. GeneReviews: Not available |
Genomic context
- Location:
- 7q31.2
- Sequence:
- Chromosome: 7; NC_000007.14 (116499738..116508541)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CAV2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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