CAVIN3 (Caveolae Associated Protein 3)
A key regulator of caveolae formation and signaling, implicated in cancer and muscular dystrophy.
Gene Information Card
| Symbol | CAVIN3 |
|---|---|
| Full Name | Caveolae Associated Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 90673 ncbi.nlm.nih.gov/gene/90673 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q9H8W4 |
| OMIM ID | 614723 |
| HGNC ID | 24922 |
| Aliases | SRBC, PRKCDBP, cavin-3, HsT25970 |
Description
CAVIN3 (Caveolae Associated Protein 3), also known as SRBC (serum deprivation response factor-related gene product that binds to protein kinase C delta) or PRKCDBP, encodes a protein that is a component of the caveolar complex. Caveolae are small invaginations of the plasma membrane involved in endocytosis, signal transduction, and lipid homeostasis. CAVIN3 interacts with other cavin family members (CAVIN1, CAVIN2, CAVIN4) and caveolins to stabilize caveolae. It also plays a role in cell cycle regulation, apoptosis, and tumor suppression. Loss of CAVIN3 expression is observed in several cancers, and mutations are associated with muscular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscular dystrophy, limb-girdle, autosomal recessive 26 (LGMDR26) | Loss-of-function mutations in CAVIN3 disrupt caveolae formation in muscle cells, leading to membrane fragility and progressive muscle weakness. | OMIM #619110; ClinVar |
| Breast cancer | Reduced or absent CAVIN3 expression (via promoter methylation or deletion) is associated with tumor progression and poor prognosis. CAVIN3 acts as a tumor suppressor by inhibiting AKT signaling. | COSMIC; NCBI Gene; PubMed |
| Lung cancer | Downregulation of CAVIN3 promotes cell proliferation and invasion. Re-expression suppresses tumor growth in vitro. | COSMIC; PubMed |
| Colorectal cancer | CAVIN3 silencing correlates with advanced stage and metastasis. Mechanistically, it modulates Wnt/β-catenin signaling. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | High |
| Heart | 10.8 | High |
| Lung | 6.2 | Medium |
| Breast | 4.1 | Medium |
| Colon | 3.5 | Low |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 8.9 | Moderate expression |
| A549 (lung cancer) | 5.3 | Reduced compared to normal lung |
| MCF7 (breast cancer) | 2.1 | Low expression; often silenced |
| HCT116 (colorectal cancer) | 3.8 | Variable; downregulated in some lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop; loss of function |
| c.494_495del (p.Glu165Glyfs*12) | Frameshift | Rare | Frameshift; loss of function |
| c.632G>A (p.Arg211Gln) | Missense | Rare | Uncertain significance; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations in CAVIN3 lead to truncated or absent protein, impairing caveolae formation and tumor suppression. These are associated with LGMDR26 and cancer susceptibility.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CAVIN3.
Dominant Negative (DN)
No dominant-negative mutations have been described for CAVIN3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Caveolae-mediated endocytosis (R-HSA-199991)
• Signaling by PTK6 (R-HSA-8848021)
• AKT signaling (R-HSA-1257604)
Protein Summary
CAVIN3 is a 264-amino acid protein (UniProt Q9H8W4) belonging to the cavin family. It contains a conserved cavin domain and a coiled-coil region. The protein localizes to the plasma membrane and cytoplasm, where it interacts with CAVIN1, CAVIN2, and caveolin-1 to form stable caveolae. CAVIN3 also binds protein kinase C delta (PKCδ) and modulates its activity. Through these interactions, CAVIN3 regulates cell growth, apoptosis, and migration. Loss of CAVIN3 expression or function contributes to cancer progression and muscular dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAVIN3 Knockout HEK293 Cell Line | EDJ-KQ7379 | Human | 112464 | Details Get a Quote |
| CAVIN3 Knockout A-549 Cell Line | EDJ-KQ32513 | Human | 112464 | Details Get a Quote |
| CAVIN3 Knockout HCT 116 Cell Line | EDJ-KQ32514 | Human | 112464 | Details Get a Quote |
| CAVIN3 Knockout HeLa Cell Line | EDJ-KQ32515 | Human | 112464 | Details Get a Quote |
