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FLASH GENE
Symbol CAV2 contributors: mct/npt/shn - updated : 22-09-2011
HGNC name caveolin 2
HGNC id 1528
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