CAVIN2 (Caveolae Associated Protein 2)
A key regulator of caveolae formation and lipid homeostasis, implicated in muscular dystrophy and cancer.
Gene Information Card
| Symbol | CAVIN2 |
|---|---|
| Full Name | Caveolae Associated Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q32.3 |
| NCBI Gene ID | 8436 ncbi.nlm.nih.gov/gene/8436 |
| Ensembl ID | ENSG00000163041 |
| UniProt ID | O95810 |
| OMIM ID | 603732 |
| HGNC ID | 10697 |
| Aliases | SDPR, PS-P68, cavin-2 |
Description
CAVIN2 (caveolae associated protein 2), also known as SDPR, encodes a protein that is a component of caveolae, specialized invaginations of the plasma membrane. It is essential for caveolae formation, stability, and function, including lipid homeostasis, signal transduction, and mechanoprotection. Mutations in CAVIN2 are associated with muscular dystrophy and have been implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscular dystrophy, limb-girdle, autosomal recessive 25 | Loss of CAVIN2 disrupts caveolae structure, leading to muscle membrane fragility and degeneration. | ClinVar, OMIM |
| Cancer (various types) | Altered CAVIN2 expression affects caveolae-mediated signaling and lipid raft dynamics, promoting tumor growth and metastasis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | High |
| Heart | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Adipose tissue | 4.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 9.8 | High expression |
| HepG2 (hepatocellular carcinoma) | 7.2 | Medium expression |
| MCF7 (breast adenocarcinoma) | 5.4 | Medium expression |
| K562 (leukemia) | 1.3 | 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.325C>T (p.Arg109*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.500_501insA (p.Gln167fs) | Frameshift | <0.01% | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in CAVIN2 are loss-of-function, leading to caveolae deficiency and muscular dystrophy.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • Caveola assembly | • Plasma membrane organization |
| • Lipid homeostasis | • Signal transduction |
| • Protein localization to caveola |
Pathways
• Caveolae-mediated endocytosis
• Lipid metabolism
• Muscle contraction
Protein Summary
The CAVIN2 protein (cavin-2) is a 45 kDa cytoplasmic protein that localizes to caveolae. It interacts with caveolin-1 and other cavin family members to form the caveolar coat. It is critical for caveolae curvature and stability, and its loss leads to caveolae flattening and membrane fragility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAVIN2 Knockout HEK293 Cell Line | EDJ-KQ6240 | Human | 8436 | Details Get a Quote |
| CAVIN2 Knockout A-549 Cell Line | EDJ-KQ30090 | Human | 8436 | Details Get a Quote |
| CAVIN2 Knockout HeLa Cell Line | EDJ-KQ30091 | Human | 8436 | Details Get a Quote |
| CAVIN2 Knockout HCT 116 Cell Line | EDJ-KQ71863 | Human | 8436 | Details Get a Quote |
