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Cav3
Gene Detail
Symbol

Name
ID
Cav3
caveolin 3
MGI:107570
Synonyms
Cav-3, M-caveolin
Feature Type
protein coding gene
Genetic Map
Chromosome 6
52.26 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr6:112459505-112472872 bp, + strand
From NCBI annotation of GRCm38

  13368 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7255  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CAV3
Protein SuperFamily: caveolin-1
Gene Tree: Cav3

Human
homologs
CAV3, caveolin 3
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 859
neXtProt AC: NX_P56539

Human Synonyms: LGMD1C, LQT9, VIP21, VIP-21

Human Chr (Location): 3p25; chr3:8733800-8746765 (+)  GRCh38.p2

Disease Associations: (6) Diseases Associated with Human CAV3

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Spontaneous(1) Targeted(7) Transgenic(1)
Genomic Mutations involving Cav3 (1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous targeted mutant animals display mild myopathic changes in muscle.
 
Human Diseases Modeled in Mice Using Cav3 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(5)
Interactions
Cav3 interacts with 55 markers (Mir22, Mir29b-1, Mir29b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (122 annotations)
Process actin filament organization, cardiac muscle cell development, ...
Component caveola, cell, ...
Function alpha-tubulin binding, calcium channel regulator activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (16 records)
Data Summary: Results (82)    Tissues (14)    Images (23)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 3
RNA in situ 69
Northern blot 4
Western blot 3
RT-PCR 3
cDNA source data(13)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cav3.1, cav3.2    NEW 
Molecular
reagents
All nucleic(16) Genomic(1) cDNA(14) Primer pair(1)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000062694 (Evidence)
Entrez Gene 12391 (Evidence)
UniGene 3924
DFCI TC1582762
DoTS DT.529981, DT.55136615
NIA Mouse Gene Index U007257
Consensus CDS Project CCDS20406.1
International Mouse Phenotyping Consortium Status Cav3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 12391 NCBI Gene Model | MGI Sequence Detail 13368 C57BL/6J ±  kb
transcript NM_007617 RefSeq | MGI Sequence Detail 1172 C57BL/6 
polypeptide P51637 UniProt | EBI | MGI Sequence Detail 151 Not Applicable 

For the selected sequences
All sequences(18) RefSeq(2) UniProt(1)
Polymorphisms
SNPs within 2kb(119 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001612 Caveolin
InterPro IPR018361 Caveolin, conserved site
Protein Ontology PR:000005065 caveolin-3
Graphical View of Protein Domain Structure
References
(Earliest) J:20873 Tang ZL, et al., The primary sequence of murine caveolin reveals a conserved consensus site for phosphorylation by protein kinase C. Gene. 1994 Sep 30;147(2):299-300
(Latest) J:221142 Beketaev I, et al., Critical role of YY1 in cardiac morphogenesis. Dev Dyn. 2015 May;244(5):669-80
All references(97)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-36142, MGI:2141400

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory