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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CAV3 Gene

protein-coding   GIFtS: 62
GCID: GC03P008775

caveolin 3
 Explore 38 diseases affiliated with
CAV3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CAV3    

Aliases
for CAV3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Caveolin 31 2     VIP211 2
LGMD1C1 2 5     M-Caveolin1
LQT91 2 5     Caveolin-31
VIP-211 2     

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


Summaries
for CAV3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CAV3:
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)

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)


Genomic Views
for CAV3 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CAV3 gene promoter:
         MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CAV3 promoter sequence
   Search SABiosciences Chromatin IP Primers for CAV3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CAV3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: 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)
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

Post-translational modifications:

  • Sumoylation with SUMO3 by PIAS4 may reduce agonist-induced internalization and desensitization of adrenergic receptor
    • ABRD21
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P56539

    • CAV3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000341940   ENSP00000380525  

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    Uscn Proteins for CAV3

    Gene Ontology (GO): 5/18 cellular component terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005624membrane fraction ----
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane IDA17060380


    CAV3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CAV3

    Protein Domains /
    Families
    for CAV3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CAV3 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001612 Caveolin
     IPR018361 Caveolin_CS

    Graphical View of Domain Structure for InterPro Entry P56539

    ProtoNet protein and cluster: P56539

    1 Blocks protein family: IPB001612 Caveolin

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


    Function
    for CAV3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

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    hsa-miR-22 hsa-miR-582-5p hsa-miR-144 hsa-miR-1197 hsa-miR-101 hsa-miR-548u
    SwitchGear 3'UTR luciferase reporter plasmid: CAV3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    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:0019899enzyme binding ----


    CAV3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for CAV3: Cav3tm1Ncnp Cav3tm1Mls
         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


    Pathways & Interactions
    for CAV3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Focal Adhesion
    		Focal Adhesion1.00
    		Integrin-mediated cell adhesion0.38
    		Focal adhesion0.66
    2Remodeling of Adherens Junctions
    		Remodeling of Adherens Junctions1.00
    3SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways1.00
    4PDGFR-alpha signaling pathway
    		PDGFR-alpha signaling pathway1.00
    5Endocytosis
    		Endocytosis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

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


    3         Kegg Pathways  (Kegg details for CAV3):
        Endocytosis
    Focal adhesion
    Bacterial invasion of epithelial cells


    CAV3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CAV3

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

    5/49 Interacting proteins for CAV3 (P565392, 3 ENSP000003419404) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    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): 5/53 biological process terms (GO ID links to tree view) (see all 53):    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



    Drugs & Compounds
    for CAV3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CAV3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CAV3
    10/14 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CAV3 

    Transcripts
    for CAV3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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


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    hsa-miR-22 hsa-miR-582-5p hsa-miR-144 hsa-miR-1197 hsa-miR-101 hsa-miR-548u
    SwitchGear 3'UTR luciferase reporter plasmid: CAV3 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 

    24/30 AceView cDNA sequences (see all 30):

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

    GeneLoc Exon Structure


    Expression
    for CAV3 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CAV3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CAV3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/21 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 21) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMononuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMononuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMononuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleThoracic Epaxial MyotomeMononuclear MyocytesSkeletal Muscle
    SomiteCervical Epaxial MyotomeMononuclear MyocytesSkeletal Muscle
    SomiteCervical Hypaxial MyotomeMononuclear MyocytesSkeletal Muscle
    SomiteCervical Primary Epaxial MyotomeMononuclear MyocytesSkeletal Muscle
    SomiteCervical Primary Hypaxial MyotomeMononuclear MyocytesSkeletal Muscle
    SomiteLumbar Epaxial MyotomeMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CAV3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CAV3

    SOURCE GeneReport for Unigene cluster: Hs.98303

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including CAV3: 
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              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

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    In Situ
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    Orthologs
    for CAV3 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CAV3 gene from 7/18 species (see all 18)    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_007617.21  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
    		 --
    		 67(a)
    		 1 ↔ 1
    		 2(88219230-88228728)
    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 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 28(a)
    		 possible ortholog
    		 Group11.9(479912-480970)
    worm
    (Caenorhabditis elegans)    		 Secernentea cav-26
    		 Caveolin-2
    		 10(a)
    		 possible ortholog
    		 V(13557148-13559910)


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

    Paralogs
    for CAV3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for CAV3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/413 NCBI SNPs in CAV3 are shown (see all 413)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2378831,2
    		C,F,A,non-pathogenic8788485(+) CTCTCA/TCACAC 2 -- ds500112Minor allele frequency- T:0.23NA WA CSA EA 385
    rs130678451,2
    		C,non-pathogenic11962312(+) TCACAA/CACACA 2 -- ds50010--------
    rs1168407771,2
    		Cnon-pathogenic11963343(+) CATCCA/GCACCT 4 H R mis10--------
    rs1168407751,2
    		C,non-pathogenic11963516(+) GTCTCA/CAAGTA 4 S syn10--------
    rs1168407741,2
    		Cnon-pathogenic11963552(+) GACGGA/CGTGTG 4 G syn10--------
    rs571597801,2
    		C,F,non-pathogenic11963628(+) TTGAGG/CCTTCC 2 -- int16Minor allele frequency- C:0.07CSA WA NA EU 1036
    rs1168407711,2
    		C,non-pathogenic11975273(+) ACACAG/ACTCGG 2 -- ut511Minor allele frequency- A:0.00EU 593
    rs1168408051,2
    		Cpathogenic11963406(+) GGTGCC/TATGCA 4 P L mis10--------
    rs1168408021,2
    		Cpathogenic11963430(+) CTCCT-/TCTG  
                CCACA     		4 S FC fra10--------
    rs289366861,2
    		Cpathogenic11963443(+) TGTTCA/G/TCCTGC 6 T A S mis13NA 4550

    HapMap Linkage Disequilibrium report for CAV3 (8775486 - 8883492 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CAV3: --
    Human Gene Mutation Database (HGMD): CAV3

    Locus Specific Mutation Databases (LSDB): CAV3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CAV3
    DNA2.0 Custom Variant and Variant Library Synthesis for CAV3

    Disorders / Diseases
    for CAV3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CAV3 for disorders           About GeneDecksing

    OMIM gene information: 601253   
    OMIM disorders: 607801  606072  123320  192600  611818  
    UniProtKB/Swiss-Prot: CAV3_HUMAN, P56539
  • Defects in CAV3 are the cause of limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]. LGMD1C is a
    • myopathy characterized by calf hypertrophy and mild to moderate proximal muscle weakness. LGMD1C inheritance can be
    autosomal dominant or recessive
  • Defects in CAV3 are a cause of hyperCKmia (HYPCK) [MIM:123320]. It is a disease characterized by persistent
    • elevated levels of serum creatine kinase without muscle weakness
  • Defects in CAV3 are a cause of rippling muscle disease (RMD) [MIM:606072]. RMD is a 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
  • Defects in CAV3 are a cause of familial hypertrophic cardiomyopathy (CMH) [MIM:192600]; also designated FHC or
    • HCM. Familial hypertrophic cardiomyopathy is 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
  • Defects in CAV3 are the cause of long QT syndrome type 9 (LQT9) [MIM:611818]. Long QT syndromes are heart
    • disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause
    syncope and sudden death in response to excercise or emotional stress. They can present with a sentinel event of
    sudden cardiac death in infancy
  • Defects in CAV3 can be a cause of 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. Long QT
    syndromes-associated mutations can be responsible for some SIDS cases
  • Defects in CAV3 are the cause of 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

    20/38 diseases for CAV3 (see all 38):    About MalaCards
    limb-girdle muscular dystrophy type 1c    limb-girdle muscular dystrophy    rippling muscle disease    creatine phosphokinase, elevated serum
    muscular dystrophy    muscular dystrophy, limb-girdle, type ic    myopathy, distal, with decreased caveolin 3    creatine phosphokinase
    long qt syndrome 9    sudden infant death syndrome    long qt syndrome    duchenne muscular dystrophy
    vacuolar myopathy    caveolinopathies    progressive muscular atrophy    hypertrophic cardiomyopathy
    familial hypertrophic cardiomyopathy    centronuclear myopathy    muscular atrophy    neuromuscular disease

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

    10/25 Novoseek 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
    Caveolinopathies

    Human Genome Epidemiology (HuGE) Navigator: CAV3 (6 documents)

    Export disorders for CAV3 gene to outside databases

    Publications
    for CAV3 gene

    (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

    PubMed articles for CAV3 gene, integrated from 9 sources (see all 222):
    (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. (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. (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. (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. (2003)
    5. A CAV3 microdeletion differentially affects skeletal muscle and myocardium. (PubMed id 14663034)1, 2, 9 Cagliani R.... Comi G.P. (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. (2000)
    7. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. (PubMed id 10746614)1, 2, 9 Carbone I....Minetti C. (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. (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. (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. (2006)

    External Searches for CAV3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing CAV3 gene

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

    Other Databases showing CAV3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CAV3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/CAV3
    Wikipedia http://en.wikipedia.org/wiki/Caveolin

    Intellectual Property
    for CAV3 gene

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

    GeneCards and IP:
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