CAV2 (Caveolin 2) Gene
Structural Component of Caveolae Membranes
Gene Information Card
| Symbol | CAV2 |
|---|---|
| Full Name | Caveolin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.2 |
| NCBI Gene ID | 858 ncbi.nlm.nih.gov/gene/858 |
| Ensembl ID | ENSG00000105971 |
| UniProt ID | P51636 |
| OMIM ID | 601048 |
| HGNC ID | 1522 |
| Aliases | CAV, MGC12294 |
Description
CAV2 encodes caveolin 2, a scaffolding protein that is a major component of caveolae plasma membranes. Caveolin 2 forms heterooligomeric complexes with caveolin 1 and is essential for caveolae formation, endocytosis, lipid homeostasis, and signal transduction. It is widely expressed, with highest levels in adipose tissue, endothelium, and muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lipodystrophy, familial partial, type 7 (FPLD7) | Loss-of-function mutations in CAV2 disrupt caveolae formation, impairing adipocyte lipid storage and insulin signaling. | OMIM #606721 |
| Primary pulmonary hypertension (PPH1) | CAV2 variants may contribute to endothelial dysfunction and vascular remodeling in pulmonary arteries. | ClinVar; PMID: 19563687 |
| Breast carcinoma | CAV2 overexpression correlates with tumor progression and poor prognosis; caveolin-2 promotes cell migration and invasion. | COSMIC; PMID: 22926521 |
| Muscular dystrophy, congenital, with or without brain involvement | CAV2 mutations impair caveolae in muscle cells, leading to membrane fragility and myofiber degeneration. | OMIM #606721; PMID: 24619931 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 45.2 | High |
| Lung | 32.8 | High |
| Heart | 28.1 | High |
| Skeletal muscle | 25.6 | High |
| Liver | 8.4 | Medium |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 62.5 | High expression; caveolae-rich |
| A549 (lung carcinoma) | 38.9 | Moderate expression |
| MCF7 (breast cancer) | 22.3 | Overexpressed in some lines |
| HepG2 (hepatocellular) | 9.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; likely loss of function |
| c.97C>T (p.Arg33Trp) | missense | <0.01% | Impaired caveolae formation; associated with FPLD7 |
| c.224G>A (p.Arg75Gln) | missense | <0.01% | Reduced protein stability; reported in muscular dystrophy |
| c.473_474del (p.Leu158fs) | frameshift | <0.01% | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that reduce or abolish caveolin-2 protein expression or function, leading to caveolae deficiency and disease (e.g., FPLD7, muscular dystrophy).
Gain of Function (GOF)
Not well documented; some missense variants may enhance caveolin-2 stability or interaction with caveolin-1, but no clear gain-of-function phenotype is established.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg33Trp) that disrupt caveolae assembly by interfering with caveolin-1 heterooligomerization, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa:04530 - Tight junction
• hsa:04810 - Regulation of actin cytoskeleton
• hsa:04144 - Endocytosis
• hsa:04931 - Insulin resistance
• hsa:05200 - Pathways in cancer
Protein Summary
Caveolin-2 is a 162-amino acid integral membrane protein (20 kDa) that localizes to caveolae. It contains a conserved caveolin scaffolding domain (CSD) that mediates homo- and hetero-oligomerization with caveolin-1. The protein is palmitoylated and interacts with signaling molecules (e.g., G-proteins, Src kinases, eNOS). Caveolin-2 is essential for caveolae biogenesis and modulates lipid raft-dependent signaling, endocytosis, and mechanotransduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Cav2.2 Overexpression HEK293 Stable Cell Line | EDJ-GQ57 | Human | Details Get a Quote | |
| CAV2 Knockout HEK293 Cell Line | EDJ-KQ12742 | Human | 858 | Details Get a Quote |
| CAV2 Knockout A-549 Cell Line | EDJ-KQ40578 | Human | 858 | Details Get a Quote |
| CAV2 Knockout HCT 116 Cell Line | EDJ-KQ41843 | Human | 858 | Details Get a Quote |
| CAV2 Knockout HeLa Cell Line | EDJ-KQ41844 | Human | 858 | Details Get a Quote |
| CAV2 Knockout BxPC-3 Cell Line | EDJ-KZ130 | Human | 858 | Details Get a Quote |
| CAV2 Knockout PANC-1 Cell Line | EDJ-KZ131 | Human | 858 | Details Get a Quote |
