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CAV3 Gene

protein-coding   GIFtS: 63
GCID: GC03P008775

Caveolin 3

Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Caveolin 31 2     VIP-212
M-caveolin1 2 3     VIP212
LGMD1C2 5     caveolin-32
LQT92 5     

External Ids:    HGNC: 15291   Entrez Gene: 8592   Ensembl: ENSG000001825337   OMIM: 6012535   UniProtKB: P565393   

Export aliases for CAV3 gene to outside databases

Previous GC identifers: GC03P008704 GC03P008750 GC03P008709


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 creatine phosphokinase, elevated serum, and limb-girdle muscular dystrophy type 1c. GO annotations related to this gene include ion channel binding and protein C-terminus binding. An important paralog of this gene is CAV1.

UniProtKB/Swiss-Prot: CAV3_HUMAN, P56539
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 Wiki entry for CAV3 (Caveolin 3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the CAV3 gene promoter:
         MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCAV3 promoter sequence
   Search Chromatin IP Primers for CAV3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CAV3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p25   Ensembl cytogenetic band:  3p25.3   HGNC cytogenetic band: 3p25

CAV3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAV3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P008775:  view genomic region     (about GC identifiers)

Start:
8,775,486 bp from pter      End:
8,883,492 bp from pter
Size:
108,007 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CAV3_HUMAN, P56539 (See protein sequence)
Recommended Name: Caveolin-3  
Size: 151 amino acids; 17259 Da
Subunit: 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
Caution: It is uncertain whether Met-1 or Met-2 is the initiator
Sequence caution: Sequence=AAC14931.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAF84581.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K777 Q3T1A4

Explore the universe of human proteins at neXtProt for CAV3: NX_P56539

Explore proteomics data for CAV3 at MOPED

Post-translational modifications: 

  • Sumoylation with SUMO3 by PIAS4 may reduce agonist-induced internalization and desensitization of adrenergic
    receptor ABRD21
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CAV3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001225.1  NP_203123.1  

    ENSEMBL proteins: 
     ENSP00000341940   ENSP00000380525  

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    CAV3 Antibody Products:

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    Abcam antibodies for CAV3 (Q3T1A4, P56539)
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    LSBio Antibodies in human, mouse, rat for CAV3

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001612 Caveolin
     IPR018361 Caveolin_CS

    Graphical View of Domain Structure for InterPro Entry P56539

    ProtoNet protein and cluster: P56539

    1 Blocks protein domain: IPB001612 Caveolin

    UniProtKB/Swiss-Prot: CAV3_HUMAN, P56539
    Similarity: Belongs to the caveolin family


    CAV3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAV3_HUMAN, P56539
    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

         Genatlas biochemistry entry for CAV3:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005246calcium channel regulator activity IDA--
    GO:0005515protein binding IPI10988290
    GO:0008022protein C-terminus binding IDA10988290
    GO:0017080sodium channel regulator activity IMP17275750
    GO:0019870potassium channel inhibitor activity ISS--
         
    CAV3 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cav3):
     cardiovascular system  cellular  homeostasis/metabolism  immune system  muscle 

    CAV3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CAV3: Cav3tm1Ncnp Cav3tm1Mls

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CAV3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CAV3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAV3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CAV3

    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate CAV3:
    hsa-miR-22 hsa-miR-582-5p hsa-miR-144 hsa-miR-1197 hsa-miR-101 hsa-miR-548u
    SwitchGear 3'UTR luciferase reporter plasmidCAV3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CAV3
    Predesigned siRNA for gene silencing in human, mouse, rat CAV3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): CAV3 (NM_001234)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAV3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAV3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAV3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CAV3_HUMAN, P56539: Golgi apparatus membrane; Peripheral membrane protein (By similarity). Cell membrane;
    Peripheral membrane protein (By similarity). Membrane, caveola; Peripheral membrane protein (By similarity).
    Note=Potential hairpin-like structure in the membrane. Membrane protein of caveolae (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane5
    cytoskeleton2
    cytosol1
    endosome1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IDA--
    GO:0005886plasma membrane IDA17060380
    GO:0005901caveola IEA--

    CAV3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CAV3 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    Integrin-mediated cell adhesion0.38
    Focal Adhesion0.65
    2SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    3Remodeling of Adherens Junctions
    Remodeling of Adherens Junctions
    4Proteoglycans in cancer
    Proteoglycans in cancer
    5PDGFR-alpha signaling pathway
    PDGFR-alpha signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CAV3
        Remodeling of Adherens Junctions

    4 BioSystems Pathways for CAV3
        Focal Adhesion
    Integrin-mediated cell adhesion
    SIDS Susceptibility Pathways
    PDGFR-alpha signaling pathway


    4 Kegg Pathways  (Kegg details for CAV3):
        Endocytosis
    Focal adhesion
    Bacterial invasion of epithelial cells
    Proteoglycans in cancer


    CAV3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CAV3: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Focal Adhesions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CAV3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CAV3 (P565392, 3 ENSP000003419404) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCDBPQ969G52, 3, ENSP000003072924MINT-7234765 I2D: score=1 STRING: ENSP00000307292
    JPH2Q9BR393, ENSP000003620714I2D: score=2 STRING: ENSP00000362071
    NOS1P294753, ENSP000003207584I2D: score=2 STRING: ENSP00000320758
    PFKMP082373, ENSP000003528424I2D: score=2 STRING: ENSP00000352842
    GNASQ5JWF23, ENSP000003601414I2D: score=1 STRING: ENSP00000360141
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 60):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001778plasma membrane repair IEA--
    GO:0002027regulation of heart rate IMP17060380
    GO:0006469negative regulation of protein kinase activity ISS--
    GO:0006641triglyceride metabolic process ISS--
    GO:0006897endocytosis ISS--

    CAV3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CAV3

    Selected Novoseek inferred chemical compound relationships for CAV3 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 24.3 6 14600260 (2), 11884389 (1), 15625079 (1), 15065861 (1) (see all 5)
    cholesterol 23.4 5 17307729 (2), 11884389 (1), 15689493 (1), 18514221 (1)
    phenylephrine 17 2 19299911 (1)
    sucrose 15.8 5 10464299 (1), 9607328 (1), 15961389 (1), 11821059 (1) (see all 5)
    tripeptide 15.6 2 12387816 (1), 14600260 (1)
    creatinine 9.77 2 10746614 (1), 14749532 (1)
    nitric oxide 9.03 5 9542584 (2), 12966035 (1)
    phosphatidylinositol 7.56 1 16814768 (1)
    isoproterenol 2.53 2 19299911 (1)
    sodium 0 8 17060380 (3), 17275750 (3), 11884374 (1)



    CAV3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CAV3 gene (2 alternative transcripts): 
    NM_001234.4  NM_033337.2  

    Unigene Cluster for CAV3:

    Caveolin 3
    Hs.98303  [show with all ESTs]
    Unigene Representative Sequence: NM_033337
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000343849(uc003bra.3 uc003brb.3) ENST00000472766 ENST00000397368


    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate CAV3:
    hsa-miR-22 hsa-miR-582-5p hsa-miR-144 hsa-miR-1197 hsa-miR-101 hsa-miR-548u
    SwitchGear 3'UTR luciferase reporter plasmidCAV3 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat CAV3

    Additional mRNA sequence: 

    AF036365.1 AF043101.1 AK291892.1 BC069368.1 BC102033.1 BC102036.1 BC102037.1 Y14747.1 

    3 DOTS entries:

    DT.100736826  DT.452535  DT.402845 

    Selected AceView cDNA sequences (see all 30):

    AI287620 AF036365 AA425319 AI376233 BX089158 NM_001234 AI374786 F24718 
    AF043101 AA418663 NM_033337 Y14747 BX114193 BC069368 AA418599 AA993205 
    AI810862 AA993189 AA993800 BF310794 AA452471 AI745521 AA968457 F25952 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CAV3 expression in normal human tissues (normalized intensities)      CAV3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CAV3 Expression
    About this image


    CAV3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Skeletal Muscle (Muscoskeletal System)
    CAV3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CAV3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98303

    UniProtKB/Swiss-Prot: CAV3_HUMAN, P56539
    Tissue specificity: Expressed predominantly in muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CAV3: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Focal Adhesions in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAV3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CAV3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cav31 , 5 caveolin 31, 5 89.33(n)1
    95.33(a)1
      6 (52.26 cM)5
    123911  NM_007617.31  NP_031643.11 
     1124595055 
    chicken
    (Gallus gallus)
    Aves CAV31 caveolin 3 81.43(n)
    80.41(a)
      378796  NM_204370.1  NP_989701.1 
    lizard
    (Anolis carolinensis)
    Reptilia CAV36
    caveolin 3
    67(a)
    1 ↔ 1
    2(88218955-88232366)
    African clawed frog
    (Xenopus laevis)
    Amphibia cav3-prov2 caveolin 3 76.75(n)    BC041289.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.14352 Danio rerio caveolin 3 mRNA, complete cds 78.21(n)    AY124574.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cav-16
    Protein CAV-1, isoform c
    14(a)
    1 → many
    IV(9771154-9773474) WBGene00000301


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CAV3 gene
    CAV12  CAV22  
    2 SIMAP similar genes for CAV3 using alignment to 1 protein entry:     CAV3_HUMAN:
    CAV1    CAV2

    CAV3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CAV3 (see all 497)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219092811,2,,4
    C,FSudden infant death syndrome (SIDS)4 pathogenic18709527(+) AGATCA/C/GTCAAG 4 L V mis11NA 4552
    rs10086421,2,,4
    C,F,O,A,HMyopathy, distal, Tateyama type (MPDT)4 pathogenic18709586(+) ATTAAC/G/TGAGGA 6 N K mis1 syn144NA EA MN NS EU WA CSA 12480
    rs725466681,2,,4
    C,FSudden infant death syndrome (SIDS)4 pathogenic18721256(+) GTCCAA/C/TGCTGC 6 K T M mis14CSA NA EU 6029
    rs289366851,2,,4
    CRippling muscle disease (RMD)4 pathogenic18721283(+) CCTGCT/CCTGGG 4 /P /L mis11Minor allele frequency- C:0.00NA 4546
    rs289366861,2,,4
    CRippling muscle disease (RMD)4 pathogenic18721300(+) TGTTCA/G/TCCTGC 4 T A mis11NA 4546
    VAR_0436984
    Long QT syndrome 9 (LQT9)4--see VAR_0436982 F C mis40--------
    VAR_0210184
    Limb-girdle muscular dystrophy 1C (LGMD1C)4--see VAR_0210182 T P mis40--------
    VAR_0014034
    Rippling muscle disease (RMD)4--see VAR_0014032 P L mis40--------
    VAR_0436964
    Sudden infant death syndrome (SIDS)4--see VAR_0436962 L R mis40--------
    VAR_0295434
    Cardiomyopathy, familial hypertrophic (CMH)4--see VAR_0295432 T S mis40--------

    HapMap Linkage Disequilibrium report for CAV3 (8775486 - 8883492 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CAV3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv876514CNV Gain21882294

    Human Gene Mutation Database (HGMD): CAV3
    Locus Specific Mutation Databases (LSDB): CAV3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CAV3
    DNA2.0 Custom Variant and Variant Library Synthesis for CAV3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601253   
    OMIM disorders: 607801  606072  123320  614321  192600  611818  
    UniProtKB/Swiss-Prot: CAV3_HUMAN, P56539
  • 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.
    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. 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. 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. 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. 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. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • Selected diseases for CAV3 (see all 44):    About MalaCards
    creatine phosphokinase, elevated serum    limb-girdle muscular dystrophy type 1c    caveolinopathies    familial hypertrophic cardiomyopathy
    rippling muscle disease    cav3-related sudden infant death syndrome    myopathy, distal, tateyama type    long qt syndrome 9
    limb-girdle muscular dystrophies, autosomal dominant    dystrophinopathies    vacuolar myopathy    sudden infant death syndrome
    progressive muscular atrophy    long qt syndrome 1    neuromuscular disease    limb-girdle muscular dystrophy
    long qt syndrome    hepatopulmonary syndrome    centronuclear myopathy    muscular dystrophy

    3 diseases from the University of Copenhagen DISEASES database for CAV3:
    Myopathy     Neuropathy     Long QT syndrome

    CAV3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CAV3 gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rippling muscle disease 97.8 27 19773168 (3), 12666119 (2), 12557291 (2), 11756609 (1) (see all 20)
    lgmd1c 97.2 31 12666119 (2), 17039257 (2), 11532985 (2), 15564037 (1) (see all 17)
    muscular dystrophy limb-girdle 90.7 21 14600260 (2), 10973975 (2), 12939441 (2), 14993453 (1) (see all 14)
    limb girdle 87.6 14 11001938 (3), 10464299 (2), 16730439 (2), 11786420 (1) (see all 9)
    distal myopathies 86.6 12 15564037 (1), 18930476 (1), 14981167 (1), 19584897 (1) (see all 10)
    muscular dystrophies 86.1 37 11001938 (3), 11786420 (2), 9536092 (2), 19380584 (2) (see all 22)
    lgmd2b 82.2 3 15316618 (1), 14673575 (1)
    lgmd1b 73.3 2 15316618 (1)
    lgmd1a 72.4 2 15316618 (1)
    myopathy 69.8 9 10417791 (3), 15564037 (1), 12666119 (1), 20211563 (1) (see all 6)

    GeneTests: CAV3
    GeneReviews: CAV3
    Genetic Association Database (GAD): CAV3
    Human Genome Epidemiology (HuGE) Navigator: CAV3 (6 documents)

    Export disorders for CAV3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CAV3 gene, integrated from 10 sources (see all 229):
    (articles sorted by number of sources associating them with CAV3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Caveolin-3 in muscular dystrophy. (PubMed id 9536092)1, 2, 3, 9 McNally E.M.... Kunkel L.M. (Hum. Mol. Genet. 1998)
    2. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. (PubMed id 9537420)1, 2, 3, 9 Minetti C.... Zara F. (Nat. Genet. 1998)
    3. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. (PubMed id 17275750)1, 2, 9 Cronk L.B....Ackerman M.J. (Heart Rhythm 2007)
    4. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. (PubMed id 12666119)1, 2, 9 Kubisch C.... Vorgerd M. (Ann. Neurol. 2003)
    5. A CAV3 microdeletion differentially affects skeletal muscle and myocardium. (PubMed id 14663034)1, 2, 9 Cagliani R.... Comi G.P. (Neurology 2003)
    6. Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members. (PubMed id 10988290)1, 2, 9 Sotgia F.... Lisanti M.P. (J. Biol. Chem. 2000)
    7. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. (PubMed id 10746614)1, 2, 9 Carbone I....Minetti C. (Neurology 2000)
    8. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. (PubMed id 11001938)1, 2, 9 Herrmann R.... Voit T. (Hum. Mol. Genet. 2000)
    9. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. (PubMed id 14672715)1, 2, 9 Hayashi T.... Kimura A. (Biochem. Biophys. Res. Commun. 2004)
    10. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. (PubMed id 17060380)1, 2, 9 Vatta M.... Towbin J.A. (Circulation 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 859 HGNC: 1529 AceView: CAV3 Ensembl:ENSG00000182533 euGenes: HUgn859
    ECgene: CAV3 Kegg: 859 H-InvDB: CAV3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CAV3 Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for CAV3 Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    CAV3/LGMD1Chttp://www.dmd.nl/cav3_home.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CAV3[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Caveolin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CAV3 gene:
    Search GeneIP for patents involving CAV3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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