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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CAVIN4
caveolae associated protein 4
Chromosome 9 · 9q31.1
NCBI Gene: 347273Ensembl: ENSG00000170681.8HGNC: HGNC:33742UniProt: Q5BKX8
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of gene expressioncaveolaplasma membraneatrial fibrillationplacenta praeviaadolescent idiopathic scoliosisPrecordial pain
✦AI Summary

CAVIN4 is a muscle-specific caveolar protein that regulates caveolae organization and cardiac function. Unlike other cavin family members, CAVIN4 modulates caveolae morphology in cardiomyocytes without being essential for caveolar formation itself 1. CAVIN4 facilitates recruitment of MAPK1/3 to caveolae and regulates alpha-1 adrenergic receptor-induced hypertrophic responses through MAPK1/3 activation, while also stabilizing caveolin-3 membrane localization [UniProt]. In skeletal muscle, CAVIN4 (also called Murc) is critical for proper T-tubule development and function, with loss-of-function mutations causing muscle fibrosis and impaired swimming capacity in zebrafish models 2. CAVIN4 activates RHOA and NPPA transcription via Rho/ROCK signaling, promoting myofibrillar organization [UniProt]. Clinically, CAVIN4 dysfunction is implicated in rippling muscle disease (RMD), where anti-cavin-4 antibodies serve as serological markers for immune-mediated RMD (iRMD), characterized by mosaic caveolin-3 and cavin-4 expression patterns 3. Notably, low CAVIN4 expression correlates with poor survival outcomes in leukemia, suggesting potential biomarker utility 4. CAVIN4 thus represents a critical regulator of muscle-specific mechanotransduction and cardiomyocyte signaling with relevance to both muscle disorders and hematologic malignancies.

Sources cited
1
CAVIN4 is muscle-specific and plays critical role in muscle-specific caveolae organization, mechanotransduction, and hypertrophic signaling
PMID: 41668064
2
Cavin4b/Murc is required for skeletal muscle development, T-tubule formation, and Erk signaling; mutations cause muscle fibrosis and impaired function
PMID: 27294373
3
Anti-cavin-4 antibodies are serological markers for immune-mediated rippling muscle disease; mosaic cavin-4 expression is pathological feature
PMID: 39370631
4
Low CAVIN4 expression is correlated with poorer leukemia outcome and could serve as prognosis biomarker
PMID: 35722492
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.45Moderate
placenta praeviaOpen Targets
0.29Weak
adolescent idiopathic scoliosisOpen Targets
0.17Weak
Precordial painOpen Targets
0.14Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
iritisOpen Targets
0.13Weak
aneurysmOpen Targets
0.13Weak
dilated cardiomyopathyOpen Targets
0.12Weak
complicationOpen Targets
0.12Weak
hemorrhageOpen Targets
0.12Weak
tooth diseaseOpen Targets
0.11Weak
Abruptio PlacentaeOpen Targets
0.11Weak
liver diseaseOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
duodenal ulcerOpen Targets
0.05Suggestive
ThymomaOpen Targets
0.03Suggestive
Pallister-Hall syndromeOpen Targets
0.03Suggestive
cardiac hypertrophyOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEG3Shared pathway100%TCF19Shared pathway100%ZNF711Shared pathway100%ZNF142Shared pathway100%ZNF239Shared pathway100%HNRNPDLShared pathway100%
Tissue Expression6 tissues
Heart
100%
Brain
5%
Lung
1%
Liver
1%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CAVIN4PEG3TCF19ZNF711ZNF142ZNF239HNRNPDL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5BKX8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.53 [0.33–0.88]
RankingsWhere CAVIN4 stands among ~20K protein-coding genes
  • #14,657of 20,598
    Most Researched18
  • #7,751of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedCAVIN4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autoimmune Encephalitis Misdiagnosis in Adults.
PMID: 36441519
JAMA Neurol · 2023
1.00
2
The spectrum of rippling muscle disease.
PMID: 39370631
Muscle Nerve · 2025
0.90
3
Autoimmune encephalitis: recovery, residual symptoms and predictors of long-term sequelae.
PMID: 39832911
J Neurol Neurosurg Psychiatry · 2025
0.80
4
Identification of key gene modules and pathways of human platelet transcriptome in acute myocardial infarction patients through co-expression network.
PMID: 34017580
Am J Transl Res · 2021
0.70
5
Cavin gene family and caveolae-related disorders: pathogenetic roles and possible mechanisms.
PMID: 41668064
Cell Commun Signal · 2026
0.60