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Aliases for CAV3 Gene

Aliases for CAV3 Gene

  • Caveolin 3 2 3 5
  • M-Caveolin 2 3 4
  • LGMD1C 3
  • VIP-21 3
  • VIP21 3
  • LQT9 3

External Ids for CAV3 Gene

Previous GeneCards Identifiers for CAV3 Gene

  • GC03P008704
  • GC03P008750
  • GC03P008709

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 muscular dystrophy, limb-girdle, type ic and long qt syndrome 9. Among its related pathways are Cardiac conduction and SIDS Susceptibility Pathways. GO annotations related to this gene include enzyme binding and protein C-terminus 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

Regulatory Elements for CAV3 Gene

Promoters for CAV3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CAV3 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for CAV3 Gene

Chromosome:
3
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

Genes around CAV3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAV3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAV3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAV3 Gene

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:

Antibody Products

No data available for DME Specific Peptides for CAV3 Gene

Domains & Families for CAV3 Gene

Protein Domains for CAV3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CAV3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56539

UniProtKB/Swiss-Prot:

CAV3_HUMAN :
  • Belongs to the caveolin family.
Family:
  • Belongs to the caveolin family.
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:0005515 protein binding IPI 10988290
GO:0050998 nitric-oxide synthase binding IEA --
genes like me logo Genes that share ontologies with CAV3: view
genes like me logo Genes that share phenotypes with CAV3: view

Human Phenotype Ontology for CAV3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAV3 Gene

MGI Knock Outs for CAV3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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
plasma membrane 5
golgi apparatus 4
cytosol 3
cytoskeleton 2
endosome 1
extracellular 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 22792322
GO:0014704 intercalated disc IEA --
GO:0031594 neuromuscular junction ISS --
GO:0042383 sarcolemma IDA 12847114
genes like me logo Genes that share ontologies with CAV3: view

Pathways & Interactions for CAV3 Gene

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

Pathways by source for CAV3 Gene

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:0006641 triglyceride metabolic process ISS --
GO:0006936 muscle contraction TAS --
GO:0007204 positive regulation of cytosolic calcium ion concentration ISS --
genes like me logo Genes that share ontologies with CAV3: view

No data available for SIGNOR curated interactions for CAV3 Gene

Drugs & Compounds for CAV3 Gene

(6) Drugs for CAV3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) Additional Compounds for CAV3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (x30.4), Heart - Left Ventricle (x11.3), and Heart - Atrial Appendage (x5.9).

Protein differential expression in normal tissues from HIPED for CAV3 Gene

This gene is overexpressed in Esophagus (31.4) and Heart (27.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CAV3: view

Protein tissue co-expression partners for CAV3 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CAV3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAV3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CAV3 35
  • 93.6 (n)
  • 98.01 (a)
CAV3 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAV3 35
  • 93.6 (n)
  • 97.35 (a)
CAV3 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cav3 35
  • 89.33 (n)
  • 95.33 (a)
Cav3 16
Cav3 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CAV3 35
  • 99.56 (n)
  • 100 (a)
CAV3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cav3 35
  • 89.11 (n)
  • 95.33 (a)
oppossum
(Monodelphis domestica)
Mammalia CAV3 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAV3 35
  • 81.43 (n)
  • 80.41 (a)
CAV3 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAV3 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cav3.1 35
  • 68.65 (n)
  • 66.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia cav3-prov 35
zebrafish
(Danio rerio)
Actinopterygii cav3 35
  • 75.78 (n)
  • 74 (a)
Dr.1435 35
cav3 36
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12277 35
worm
(Caenorhabditis elegans)
Secernentea cav-1 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5553 36
  • 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

(2) 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
VAR_001403 Limb-girdle muscular dystrophy 1C (LGMD1C)
VAR_001403 Rippling muscle disease (RMD)
VAR_010742 HyperCKmia (HYPCK)
VAR_010743 -
VAR_011512 HyperCKmia (HYPCK)

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

Variant ID Type Subtype PubMed ID
nsv876514 CNV Gain 21882294

Variation tolerance for CAV3 Gene

Residual Variation Intolerance Score: 70.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 60.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAV3 Gene

HapMap Linkage Disequilibrium report
CAV3
Human Gene Mutation Database (HGMD)
CAV3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAV3 Gene

Disorders for CAV3 Gene

MalaCards: The human disease database

(30) MalaCards diseases for CAV3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CAV3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAV3_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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. {ECO:0000269 PubMed:17275750}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CAV3

Genetic Association Database (GAD)
CAV3
Human Genome Epidemiology (HuGE) Navigator
CAV3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAV3
genes like me logo Genes that share disorders with CAV3: view

No data available for Genatlas for CAV3 Gene

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 67
  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 23
  3. Caveolinopathies: from the biology of caveolin-3 to human diseases. (PMID: 19584897) Gazzerro E. … Minetti C. (Eur. J. Hum. Genet. 2010) 3 23
  4. Phenotypic variability in a Spanish family with a Caveolin-3 mutation. (PMID: 18930476) GonzA!lez-PAcrez P. … Bautista-Lorite J. (J. Neurol. Sci. 2009) 3 23
  5. Caveolin, GLUT4 and insulin receptor protein content in human arm and leg muscles. (PMID: 19219452) Kim H.S. … Kim C.K. (Eur. J. Appl. Physiol. 2009) 3 23

Products for CAV3 Gene

Sources for CAV3 Gene

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