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FLASH GENE
Symbol CAV2 contributors: mct/npt/shn - updated : 22-09-2011
HGNC name caveolin 2
HGNC id 1528
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Visualeyeanterior segmentcornea   Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadiposewhite highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousglia
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a stretch of eight amino-acids (FED-VIAEP)
    • mono polymer heteromer
    HOMOLOGY
    interspecies ortholog to Cav2, Mus musculus
    ortholog to Cav2, Rattus norvegicus
    ortholog to cav2, Danio rerio
    ortholog to CAV2, Pan troglodytes
    Homologene
    FAMILY
  • caveolin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    text integral membrane protein
    basic FUNCTION
  • involved in signal transduction, lipid metabolism, cellular growth control and apoptosis
  • involved in caveolar biogenesis (
  • play a role in the attenuation of the M1 muscarinic receptor intracellular trafficking to and from the plasma membrane (PM) (Shmuel 2007)
  • possible involvement of serine 36-phosphorylated caveolin-2 in modulating mitosis (Sowa 2008)
  • sequester fatty acids on the cytoplasmic leaflet of the plasma membrane, augment triglyceride formation and protect cells from lipotoxicity (Simard 2009)
  • involved in the formation of caveolae which are specialized invaginations of the plasma membrane that are rich in cholesterol and other lipids, and they take part in transcytosis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text a principal component of caveolae membranes (
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    lipid metabolism
    a component
  • major component of the inner surface of caveolae, small invaginations of the plasma membrane
  • colocalizing and forming a stable hetero-oligomeric complex with CAV1
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • caveolin-1, CAV1 (
  • flotillins 1 and 2 (
  • Ras-GAP (
  • human D1Rs, hD1Rs (
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    with MET oncogene in gastric cancer
    tumoral     --over  
    in cell lines and in inflammatory breast cancer (Van den Eynden 2006)
    Susceptibility
  • to primary open-angle glaucoma
  • to type 2 diabetes
  • subjects from Iceland mapped the first common genetic risk factor for POAG to a small region of the genome on chromosome 7q31 that contains the caveolin genes CAV2 (
    • Variant & Polymorphism SNP
  • rs4236601[A], associated with primary open-angle glaucoma
  • rs2270188 interacts with dietary fat to affect risk of type 2 diabetes
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS