CAV2
caveolin 2
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]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs775383670 | 7:116,139,845 | G/C | — | uncertain significance |
| rs762827815 | 7:116,139,849 | C/A | — | uncertain significance |
| rs374156174 | 7:116,139,959 | C/T | — | uncertain significance |
| rs567885211 | 7:116,140,330 | T/A | — | uncertain significance |
| rs2270188 | 7:116,140,524 | G/T | regulatory region variant | — |
| rs10233003 | 7:116,143,662 | C/A | upstream gene variant | — |
| rs1277487768 | 7:116,146,041 | G/A | — | uncertain significance |
| rs773769572 | 7:116,146,047 | A/G | — | uncertain significance |
| rs1793227161 | 7:116,146,064 | G/A | — | likely benign |
| rs376642828 | 7:116,146,123 | C/T | — | uncertain significance |
| rs117722738 | 7:116,146,127 | C/T | — | benign |
| rs139300375 | 7:116,146,128 | G/A | — | uncertain significance |
| rs1171200240 | 7:116,146,138 | G/A | — | uncertain significance |
| rs979589360 | 7:116,146,156 | T/C | — | uncertain significance |
| rs2485137783 | 7:116,146,158 | C/A | — | uncertain significance |
| rs1052990 | 7:116,148,370 | T/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.