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FLASH GENE
Symbol CAV2 contributors: mct/npt/shn - updated : 22-09-2011
HGNC name caveolin 2
HGNC id 1528
Location 7q31.2      Physical location : 116.139.443 - 116.148.594
Synonym name
  • caveolae protein, 20-kD
  • caveolin 2 isoform a and b
  • caveolin-2
  • Synonym symbol(s) CAV, MGC12294
    DNA
    TYPE functioning gene
    STRUCTURE 9.15 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D7S2543 - D7S522 - CAV2 - D7S633 - D7S677 - qter
    Physical map
    IMMP2L 7q31 IMP2 inner mitochondrial membrane protease-like (S. cerevisiae) LRRN3 7q21.12 leucine rich repeat neuronal 3 LOC392092 7 similar to Argininosuccinate synthase (Citrulline--aspartate ligase) DOCK4 7q21.13-q31.1 similar to Argininosuccinate synthase (Citrulline--aspartate ligase) ZNF277 7q31.1 zinc finger protein (C2H2 type) 277 IFRD1 7q31 interferon-related developmental regulator 1 FLJ39575 7q31.1 hypothetical protein FLJ39575 NPM1P14 7q31.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 14 FLJ13576 7q31.32 hypothetical protein FLJ13576 FLJ31818 7q31.1 hypothetical protein FLJ31818 GPR85 7q31 G protein-coupled receptor 85 LOC389548 7 hypothetical gene supported by BX537645 PPP1R3A 7q11.23 protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle) FOXP2 7q31 forkhead box P2 HIC 7q31.1 forkhead box P2 TFEC 7q31.2 transcription factor EC TES 7q31.2 testis derived transcript (3 LIM domains) CAV2 7q31.1-q31.2 caveolin 2 CAV1 7q31.2-q31.3 caveolin 1, caveolae protein, 22kDa MET 7q31.2-q31.3 met proto-oncogene (hepatocyte growth factor receptor) CAPZA2 7q31.2-q31.3 capping protein (actin filament) muscle Z-line, alpha 2 ST7 7q31.1-q31.3 suppression of tumorigenicity 7 WNT2 7q31 wingless-type MMTV integration site family member 2 GASZ 7q31.31 GASZ CFTR 7q31.3 cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) CORTBP2 7q31.3 cortactin binding protein 2 LSM8 7q31.1-q31.3 LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae) ANKRD7 7q31 ankyrin repeat domain 7 KCND2 7q31-q32 potassium voltage-gated channel, Shal-related subfamily, member 2 TM4SF12 7 transmembrane 4 superfamily member 12 ING3 7q31 inhibitor of growth family, member 3 FLJ21986 7q31.32 hypothetical protein FLJ21986 WNT16 7q31 wingless-type MMTV integration site family, member 16 FAM3C 7q22.1-q31.1 family with sequence similarity 3, member C HCP19 7q31.32 cytochrome c, somatic pseudogene LOC136143 7q31.32 similar to ribosomal protein L18; 60S ribosomal protein L18 PTPRZ1 7q31.3 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 AASS 7q31.3 aminoadipate-semialdehyde synthase LOC389549 7 similar to zinc finger protein 312; forebrain embryonic zinc finger
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 3332 18.2 162 . retina, ciliary muscle, trabecular meshwork, and Schlemm's canal . most abundantly expressed in endothelial cells, smooth muscle cells, skeletal myoblasts (L6, BC3H1, C2C12), fibroblasts, and 3T3-L1 cells differentiated to adipocytes (PMID:9361015) - 21321670
    2 - 3144 12.6 112 - 1996 8552590
    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