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Aliases for CAV3 Gene

Aliases for CAV3 Gene

  • Caveolin 3 2 3
  • M-Caveolin 2 3 4
  • LGMD1C 3 6
  • LQT9 3 6
  • Caveolin-3 3
  • VIP-21 3
  • VIP21 3

External Ids for CAV3 Gene

Summaries for CAV3 Gene

Entrez Gene Summary for CAV3 Gene

  • This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]

GeneCards Summary for CAV3 Gene

CAV3 (Caveolin 3) is a Protein Coding gene. Diseases associated with CAV3 include myopathy, distal, tateyama type and long qt syndrome 9. Among its related pathways are Proteoglycans in cancer and Endocytosis. GO annotations related to this gene include protein C-terminus binding and ion channel binding. An important paralog of this gene is CAV1.

UniProtKB/Swiss-Prot for CAV3 Gene

  • May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress

Gene Wiki entry for CAV3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAV3 Gene

Genomics for CAV3 Gene

Genomic Location for CAV3 Gene

Start:
8,733,800 bp from pter
End:
8,841,808 bp from pter
Size:
108,009 bases
Orientation:
Plus strand

Genomic View for CAV3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CAV3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAV3 Gene

Regulatory Elements for CAV3 Gene

Transcription factor binding sites by QIAGEN in the CAV3 gene promoter:

Proteins for CAV3 Gene

  • Protein details for CAV3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56539-CAV3_HUMAN
    Recommended name:
    Caveolin-3
    Protein Accession:
    P56539
    Secondary Accessions:
    • A8K777
    • Q3T1A4

    Protein attributes for CAV3 Gene

    Size:
    151 amino acids
    Molecular mass:
    17259 Da
    Quaternary structure:
    • Homooligomer. Interacts with DLG1 and KCNA5; forms a ternary complex (By similarity). Interacts with TRIM72 (By similarity). Interacts with MUSK; may regulate MUSK signaling (By similarity). Interacts with DAG1 (via its C-terminal); the interaction prevents binding of DAG1 with DMD. Interacts with DYSF.
    SequenceCaution:
    • Sequence=AAC14931.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAF84581.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for CAV3 Gene

Proteomics data for CAV3 Gene at MOPED

Post-translational modifications for CAV3 Gene

  • Sumoylation with SUMO3 by PIAS4 may reduce agonist-induced internalization and desensitization of adrenergic receptor ABRD2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CAV3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CAV3 Gene

Domains for CAV3 Gene

Protein Domains for CAV3 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

CAV3_HUMAN
Family:
  • Belongs to the caveolin family.:
    • P56539
genes like me logo Genes that share domains with CAV3: view

No data available for Gene Families for CAV3 Gene

Function for CAV3 Gene

Molecular function for CAV3 Gene

GENATLAS Biochemistry: caveolin 3,M-caveolin,expressed specifically in cardiac and skeletal-muscle,colocalizing with dystrophin in the sarcolemma,co-purifying with members of the dystrophin complex,overexpressed with presenilin in astrocytes Alzheimer disease,leading to alteration of APP processing
UniProtKB/Swiss-Prot Function: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress

Gene Ontology (GO) - Molecular Function for CAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005246 calcium channel regulator activity IDA 21084288
GO:0005515 protein binding IPI 10988290
GO:0008022 protein C-terminus binding IDA 10988290
GO:0017080 sodium channel regulator activity IMP 17275750
GO:0019870 potassium channel inhibitor activity ISS 22879586
genes like me logo Genes that share ontologies with CAV3: view
genes like me logo Genes that share phenotypes with CAV3: view

Animal Models for CAV3 Gene

MGI Knock Outs for CAV3:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CAV3 Gene

Localization for CAV3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAV3 Gene

Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein. Note=Potential hairpin-like structure in the membrane. Membrane protein of caveolae (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CAV3 Gene COMPARTMENTS Subcellular localization image for CAV3 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 5
cytoskeleton 2
cytosol 1
endosome 1
extracellular 1

Gene Ontology (GO) - Cellular Components for CAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm --
GO:0005783 endoplasmic reticulum IDA 22792322
GO:0005794 Golgi apparatus --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CAV3: view

Pathways for CAV3 Gene

genes like me logo Genes that share pathways with CAV3: view

Gene Ontology (GO) - Biological Process for CAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001778 plasma membrane repair IEA --
GO:0002027 regulation of heart rate IMP 17060380
GO:0006469 negative regulation of protein kinase activity ISS --
GO:0006641 triglyceride metabolic process ISS --
GO:0006897 endocytosis ISS --
genes like me logo Genes that share ontologies with CAV3: view

Compounds for CAV3 Gene

(14) Novoseek inferred chemical compound relationships for CAV3 Gene

Compound -log(P) Hits PubMed IDs
lipid 24.3 6
cholesterol 23.4 5
phenylephrine 17 1
sucrose 15.8 5
tripeptide 15.6 2
genes like me logo Genes that share compounds with CAV3: view

Transcripts for CAV3 Gene

mRNA/cDNA for CAV3 Gene

Unigene Clusters for CAV3 Gene

Caveolin 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CAV3 Gene

No ASD Table

Relevant External Links for CAV3 Gene

GeneLoc Exon Structure for
CAV3
ECgene alternative splicing isoforms for
CAV3

Expression for CAV3 Gene

mRNA expression in normal human tissues for CAV3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAV3 Gene

This gene is overexpressed in Muscle - Skeletal (30.4), Heart - Left Ventricle (11.3), and Heart - Atrial Appendage (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CAV3 Gene

SOURCE GeneReport for Unigene cluster for CAV3 Gene Hs.98303

mRNA Expression by UniProt/SwissProt for CAV3 Gene

P56539-CAV3_HUMAN
Tissue specificity: Expressed predominantly in muscle.
genes like me logo Genes that share expressions with CAV3: view

Orthologs for CAV3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAV3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAV3 36
  • 99.56 (n)
  • 100 (a)
CAV3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CAV3 36
  • 93.6 (n)
  • 98.01 (a)
CAV3 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAV3 36
  • 93.6 (n)
  • 97.35 (a)
CAV3 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cav3 36
  • 89.33 (n)
  • 95.33 (a)
Cav3 16
Cav3 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CAV3 37
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cav3 36
  • 89.11 (n)
  • 95.33 (a)
chicken
(Gallus gallus)
Aves CAV3 36
  • 81.43 (n)
  • 80.41 (a)
CAV3 37
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAV3 37
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cav3-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia cav3.1 36
  • 68.65 (n)
  • 66.89 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12277 36
zebrafish
(Danio rerio)
Actinopterygii cav3 36
  • 75.78 (n)
  • 74 (a)
cav3 37
  • 74 (a)
OneToOne
Dr.1435 36
worm
(Caenorhabditis elegans)
Secernentea cav-1 37
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5553 37
  • 27 (a)
OneToMany
Species with no ortholog for CAV3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAV3 Gene

ENSEMBL:
Gene Tree for CAV3 (if available)
TreeFam:
Gene Tree for CAV3 (if available)

Paralogs for CAV3 Gene

Paralogs for CAV3 Gene

Selected SIMAP similar genes for CAV3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CAV3: view

Variants for CAV3 Gene

Sequence variations from dbSNP and Humsavar for CAV3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs34043181 -- 8,747,224(+) AGGCA(A/G)CCTTG downstream-variant-500B
rs79503804 -- 8,747,094(+) TCTCA(G/T)ATAAT downstream-variant-500B
rs114642456 -- 8,747,078(+) GCAAC(A/G)CCCAT downstream-variant-500B
rs145963148 -- 8,747,162(+) CCCAG(A/T)GGTCT downstream-variant-500B
rs148842787 -- 8,747,047(+) TGACC(-/T)TTTTT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CAV3 Gene

Variant ID Type Subtype PubMed ID
nsv876514 CNV Gain 21882294

Relevant External Links for CAV3 Gene

HapMap Linkage Disequilibrium report
CAV3
Human Gene Mutation Database (HGMD)
CAV3
Locus Specific Mutation Databases (LSDB)
CAV3

Disorders for CAV3 Gene

(6) OMIM Diseases for CAV3 Gene (601253)

UniProtKB/Swiss-Prot

CAV3_HUMAN
  • Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801]: A degenerative myopathy characterized by calf hypertrophy and mild to moderate proximal muscle weakness. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:11001938, ECO:0000269 PubMed:11532985, ECO:0000269 PubMed:12557291, ECO:0000269 PubMed:12939441, ECO:0000269 PubMed:15564037, ECO:0000269 PubMed:15580566, ECO:0000269 PubMed:9537420}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • HyperCKmia (HYPCK) [MIM:123320]: Characterized by persistent elevated levels of serum creatine kinase without muscle weakness. {ECO:0000269 PubMed:10746614, ECO:0000269 PubMed:12082049, ECO:0000269 PubMed:14663034, ECO:0000269 PubMed:15099591, ECO:0000269 PubMed:15580566}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rippling muscle disease (RMD) [MIM:606072]: Rare disorder characterized by mechanically triggered contractions of skeletal muscle. In RMD, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. {ECO:0000269 PubMed:11431690, ECO:0000269 PubMed:11756609, ECO:0000269 PubMed:12557291, ECO:0000269 PubMed:12666119, ECO:0000269 PubMed:15668980, ECO:0000269 PubMed:16458928}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:14672715}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Long QT syndrome 9 (LQT9) [MIM:611818]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:17060380, ECO:0000269 PubMed:17275750}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Myopathy, distal, Tateyama type (MPDT) [MIM:614321]: A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet. {ECO:0000269 PubMed:11805270, ECO:0000269 PubMed:15580566}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for CAV3 Gene

(25) Novoseek inferred disease relationships for CAV3 Gene

Disease -log(P) Hits PubMed IDs
rippling muscle disease 97.8 24
lgmd1c 97.2 20
muscular dystrophy limb-girdle 90.7 17
limb girdle 87.6 13
distal myopathies 86.6 10

Relevant External Links for CAV3

GeneTests
CAV3
GeneReviews
CAV3
Genetic Association Database (GAD)
CAV3
Human Genome Epidemiology (HuGE) Navigator
CAV3
genes like me logo Genes that share disorders with CAV3: view

Publications for CAV3 Gene

  1. Caveolin-3 in muscular dystrophy. (PMID: 9536092) McNally E.M. … Kunkel L.M. (Hum. Mol. Genet. 1998) 2 3 4 23
  2. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. (PMID: 9537420) Minetti C. … Zara F. (Nat. Genet. 1998) 2 3 4 23
  3. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. (PMID: 10746614) Carbone I. … Minetti C. (Neurology 2000) 3 4 23
  4. Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members. (PMID: 10988290) Sotgia F. … Lisanti M.P. (J. Biol. Chem. 2000) 3 4 23
  5. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. (PMID: 11001938) Herrmann R. … Voit T. (Hum. Mol. Genet. 2000) 3 4 23

Products for CAV3 Gene

Sources for CAV3 Gene

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