CAVIN4
Caveolae Associated Protein 4
Gene Information Card
| Symbol | CAVIN4 |
|---|---|
| Full Name | Caveolae Associated Protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q31.2 |
| NCBI Gene ID | 347273 ncbi.nlm.nih.gov/gene/347273 |
| Ensembl ID | ENSG00000188994 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | 617755 |
| HGNC ID | 33894 |
| Aliases | MURC, cavin-4, muscle-related coiled-coil protein |
Description
CAVIN4 (caveolae associated protein 4) encodes a member of the cavin protein family, which is essential for the formation and stabilization of caveolae in muscle cells. The protein is predominantly expressed in cardiac and skeletal muscle and plays a role in muscle development, caveolae-mediated signaling, and cellular mechanoprotection. Mutations in CAVIN4 have been associated with dilated cardiomyopathy and other muscle-related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy | Loss of CAVIN4 disrupts caveolae formation in cardiomyocytes, impairing membrane integrity and signaling pathways | ClinVar, OMIM |
| Muscular Dystrophy | Defective caveolae in skeletal muscle lead to membrane fragility and progressive muscle weakness | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal Muscle | 38.7 | High |
| Smooth Muscle | 12.1 | Medium |
| Lung | 3.4 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 52.3 | High expression |
| Skeletal muscle myoblasts (C2C12) | 41.5 | High expression |
| HEK293 | 1.2 | Low expression |
| HeLa | 0.5 | Not detected |
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.487G>A (p.Gly163Arg) | missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, disrupting caveolae formation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • caveola assembly | • muscle cell development |
| • plasma membrane organization | • protein localization to caveola |
| • cardiac muscle cell differentiation |
Pathways
• Caveolae-mediated signaling
• Muscle contraction and development
Protein Summary
CAVIN4 is a 364-amino acid protein that localizes to caveolae in muscle cells. It interacts with caveolin-3 and other cavins to form stable caveolar structures. The protein contains a coiled-coil domain that mediates oligomerization and membrane curvature. CAVIN4 is critical for maintaining sarcolemmal integrity and mechanotransduction in cardiac and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAVIN4 Knockout HEK293 Cell Line | EDJ-KQ12743 | Human | 347273 | Details Get a Quote |
| CAVIN4 Knockout A-549 Cell Line | EDJ-KQ41845 | Human | 347273 | Details Get a Quote |
| CAVIN4 Knockout HCT 116 Cell Line | EDJ-KQ41846 | Human | 347273 | Details Get a Quote |
| CAVIN4 Knockout HeLa Cell Line | EDJ-KQ59810 | Human | 347273 | Details Get a Quote |
