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Aliases for CAV3 Gene

Aliases for CAV3 Gene

  • Caveolin 3 2 3 5
  • M-Caveolin 2 3 4
  • Caveolin-3 3
  • Cavolin 3 3
  • 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 Rippling Muscle Disease. Among its related pathways are Focal Adhesion and Smooth Muscle Contraction. 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

Enhancers for CAV3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F008732 0.9 Ensembl ENCODE 15 +1.5 1518 5.1 PKNOX1 ZMYM3 MAFG ZNF316 ZKSCAN8 FOS MAFK EMSY EGR2 CAV3 SSUH2
GH03F008628 1.3 Ensembl ENCODE 10 -103.9 -103935 2.3 ATF1 ZNF133 SIN3A FEZF1 BRCA1 GLIS2 KLF7 FOS SP3 ZHX2 CAV3 GC03P008648 LMCD1-AS1
GH03F008709 1.1 Ensembl ENCODE 11.8 -21.9 -21856 4.9 SOX13 CTCF ZMYM3 RAD21 RARA ZNF316 GATA3 POLR2A ZNF366 FOS CAV3 OR7E122P
GH03F008656 1.2 Ensembl ENCODE 10.5 -74.9 -74852 5.5 ARID4B FEZF1 SP5 JUNB TBX21 PPARG MEF2D RFX3 GLIS1 ETV4 LMCD1-AS1 LMCD1 CAV3 GC03P008648 PIR52972
GH03F008664 1.1 Ensembl ENCODE 11.3 -68.5 -68458 1.5 HDGF PKNOX1 TBL1XR1 YBX1 BMI1 RARA CBX5 ZNF207 ETV6 CREM CAV3 LMCD1-AS1 LMCD1 PIR52972 GC03P008648
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAV3 on UCSC Golden Path with GeneCards custom track

Promoters for CAV3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001844866 400 401 PKNOX1

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. Interacts with BVES (By similarity).
    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

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 & 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: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

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

Inhibitory RNA Products

Flow Cytometry 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. Cell membrane, sarcolemma. Note=Potential hairpin-like structure in the membrane. Membrane protein of caveolae (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAV3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
golgi apparatus 4
cytoskeleton 2
extracellular 1
mitochondrion 1
cytosol 1
endosome 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 IEA --
GO:0005783 endoplasmic reticulum IDA 22792322
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane TAS --
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: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

No data available for SIGNOR curated interactions for CAV3 Gene

Drugs & Compounds for CAV3 Gene

(7) Drugs for CAV3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(7) 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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for CAV3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CAV3 Gene:

CAV3

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia CAV3 34 35
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia CAV3 34 35
  • 93.6 (n)
dog
(Canis familiaris)
Mammalia CAV3 34 35
  • 93.6 (n)
mouse
(Mus musculus)
Mammalia Cav3 34 16 35
  • 89.33 (n)
rat
(Rattus norvegicus)
Mammalia Cav3 34
  • 89.11 (n)
oppossum
(Monodelphis domestica)
Mammalia CAV3 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAV3 34 35
  • 81.43 (n)
lizard
(Anolis carolinensis)
Reptilia CAV3 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cav3.1 34
  • 68.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia cav3-prov 34
zebrafish
(Danio rerio)
Actinopterygii cav3 34 35
  • 75.78 (n)
Dr.1435 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12277 34
worm
(Caenorhabditis elegans)
Secernentea cav-1 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5553 35
  • 27 (a)
OneToMany
Species where no ortholog for CAV3 was found in the sources mined by GeneCards:
  • 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
rs1008642 Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801], Myopathy, distal, Tateyama type (MPDT) [MIM:614321], Pathogenic 8,733,975(+) ATTAA(C/T)GAGGA intron-variant, reference, synonymous-codon
rs104893713 Long QT syndrome 9 (LQT9) [MIM:611818], Pathogenic 8,745,834(+) TGCAG(C/G)AGCAT upstream-variant-2KB, reference, missense
rs104893714 Long QT syndrome 9 (LQT9) [MIM:611818], other 8,745,701(+) CTCCT(G/T)CTGCC upstream-variant-2KB, reference, missense
rs104893715 Long QT syndrome 9 (LQT9) [MIM:611818], Pathogenic 8,745,664(+) CACTG(A/G)CCCTG upstream-variant-2KB, reference, missense
rs116840773 Rippling muscle disease (RMD) [MIM:606072], Pathogenic 8,745,548(+) GATCG(A/C/T)AGAGC upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv589619 CNV loss 21841781
nsv478098 CNV novel sequence insertion 20440878
nsv1011096 CNV loss 25217958

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

Human Gene Mutation Database (HGMD)
CAV3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAV3

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

Disorders for CAV3 Gene

MalaCards: The human disease database

(32) 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 22 64
  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 22 64
  3. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. (PMID: 17275750) Cronk L.B. … Ackerman M.J. (Heart Rhythm 2007) 3 4 22 64
  4. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. (PMID: 17060380) Vatta M. … Towbin J.A. (Circulation 2006) 3 4 22 64
  5. Molecular and muscle pathology in a series of caveolinopathy patients. (PMID: 15580566) Fulizio L. … Angelini C. (Hum. Mutat. 2005) 3 4 22 64

Products for CAV3 Gene

Sources for CAV3 Gene

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