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

CAV2 Gene

protein-coding   GIFtS: 65
GCID: GC07P115926

caveolin 2

 Explore 55 diseases affiliated with
CAV2 via our new
 Human Malady Compendium 
Biological research products
for CAV2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Caveolin 21 2
CAV1 2
Caveolae Protein, 20-KD2
Caveolin 2 Isoform A And B2
Caveolin-21

External Ids:    HGNC: 15281   Entrez Gene: 8582   Ensembl: ENSG000001059717   OMIM: 6010485   UniProtKB: P516363   

Export aliases for CAV2 gene to outside databases

Previous GC identifers: GC07P114617 GC07P115680 GC07P115694 GC07P115693 GC07P115733 GC07P110505


(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 CAV2:
The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the
plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism,
cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family
member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable
hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified
for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have
also been described, and shown to have preferential localization in the cell (PMID:11238462). (provided by RefSeq, May
2011)

UniProtKB/Swiss-Prot: CAV2_HUMAN, P51636
Function: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits
and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to
lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in
endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the
insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell
cycle progression (By similarity)

Gene Wiki entry for CAV2 (Caveolin 2)


(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_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CAV2 gene promoter:
         E2F-4   E2F-3a   E2F-5   ATF-2   E2F-2   C/EBPalpha   E2F   E2F-1   c-Jun   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CAV2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CAV2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CAV2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.1   Ensembl cytogenetic band:  7q31.2   HGNC cytogenetic band: 7q31

CAV2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAV2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P115926:  view genomic region     (about GC identifiers)

Start:
115,927,434 bp from pter      End:
116,148,595 bp from pter
Size:
221,162 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 115,534,876-115,544,028     

(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: CAV2_HUMAN, P51636 (See protein sequence)
Recommended Name: Caveolin-2  
Size: 162 amino acids; 18291 Da
Subunit: Monomer or homodimer. Interacts with CAV1; the interaction forms a stable heterooligomeric complex that is
required for targeting to lipid rafts and for caveolae formation. Tyrosine phosphorylated forms do not form
heterooligomers with the Tyr-19-phosphorylated form existing as a monomer or dimer, and the Tyr-27-form as a monomer
only. Interacts (tyrosine phosphorylated form) with the SH2 domain-containing proteins, RASA1, NCK1 and SRC. Interacts
(tyrosine phosphorylated form) with INSR, the interaction (Tyr-27-phosphorylated form) is increased on insulin
stimulation. Interacts (Tyr-19 phosphorylated form) with MAPK1 (phosphorylated form); the interaction, promoted by
insulin, leads to nuclear location and MAPK1 activation. Interacts with STAT3; the interaction is increased on
insulin-induced tyrosine phosphorylation leading to STAT activation (By similarity)
Subcellular location: Nucleus. Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Cell membrane;
Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein. Note=Potential hairpin-like structure in
the membrane. Membrane protein of caveolae. Tyr-19-phosphorylated form is enriched at sites of cell-cell contact and
is translocated to the nucleus in complex with MAPK1 in response to insulin (By similarity). Tyr-27-phosphorylated
form is located both in the cytoplasm and plasma membrane. CAV1-mediated Ser-23-phosphorylated form locates to the
plasma membrane. Ser-36-phosphorylated form resides in intracellular compartments
Secondary accessions: A4D0U2 Q9UGM7
Alternative initiation: 3 isoforms:  P51636-1   P51636-2   P51636-3   (Produced by alternative splicing)

Explore the universe of human proteins at neXtProt for CAV2: NX_P51636

Post-translational modifications:

  • Phosphorylated on serine and tyrosine residues. CAV1 promotes phosphorylation on Ser-23 which then targets the complex
  • to the plasma membrane, lipid rafts and caveolae. Phosphorylation on Ser-36 appears to modulate mitosis in endothelial
    cells (By similarity). Phosphorylation on both Tyr-19 and Tyr-27 is required for insulin-induced 'Ser-727'
    phosphorylation of STAT3 and its activation. Phosphorylation on Tyr-19 is required for insulin-induced phosphorylation
    of MAPK1 and DNA binding of STAT3. Tyrosine phosphorylation is induced by both EGF and insulin (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51636

  • CAV2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001193676.1  NP_001193677.1  NP_001224.1  NP_937855.1  

    ENSEMBL proteins: 
     ENSP00000222693   ENSP00000345679   ENSP00000377120  

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    Uscn Proteins for CAV2

    Gene Ontology (GO): 5/20 cellular component terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0002080acrosomal membrane IEA--
    GO:0005622intracellular IDA15703204
    GO:0005624membrane fraction ----
    GO:0005634nucleus IEA--


    CAV2 for ontologies           About GeneDecksing



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

    CAV2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001612 Caveolin
     IPR018361 Caveolin_CS

    Graphical View of Domain Structure for InterPro Entry P51636

    ProtoNet protein and cluster: P51636

    1 Blocks protein family: IPB001612 Caveolin

    UniProtKB/Swiss-Prot: CAV2_HUMAN, P51636
    Similarity: Belongs to the caveolin family


    (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: CAV2_HUMAN, P51636
    Function: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits
    and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to
    lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in
    endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the
    insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell
    cycle progression (By similarity)

         Genatlas biochemistry entry for CAV2:
    caveolin,major component of the inner surface of caveolae,small invaginations of the plasma membrane,expressed in brain
    endothelial and astroglial cells,localized to the Golgi complex,colocalizing and forming a stable hetero-oligomeric
    complex with CAV1,involved in essential cellular functions,including signal transduction,lipid metabolism,cellular
    growth control and apoptosis

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    hsa-miR-142-5p hsa-miR-549 hsa-miR-199a-3p hsa-miR-29a hsa-miR-301a hsa-miR-133a hsa-miR-192* hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidCAV2 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000149SNARE binding ----
    GO:0005515protein binding IPI15703204
    GO:0019905syntaxin binding IEA--
    GO:0031748D1 dopamine receptor binding IPI15569306
    GO:0042803protein homodimerization activity IDA8552590


    CAV2 for ontologies           About GeneDecksing


    4 GenomeRNAi human phenotypes for CAV2:
     Decreased Tat-dependent transc  Decreased focal adhesion (FA)   Decreased p24 protein expressi  Increased Salmonella enterica  

    Animal Models:
         Mouse knock-out Cav2tm1Mls for CAV2
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cav2):
     adipose tissue  cardiovascular system  cellular  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  muscle  other  respiratory system 

    CAV2 for phenotypes           About GeneDecksing


    (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 - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Focal Adhesion
    Focal Adhesion1.00
    Integrin-mediated cell adhesion0.38
    Focal adhesion0.66
    2Cytoskeletal Signaling
    Cytoskeletal Signaling1.00
    3Remodeling of Adherens Junctions
    Remodeling of Adherens Junctions1.00
    4EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway1.00
    5Syndecan-2-mediated signaling events
    Syndecan-2-mediated signaling events1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CAV2
        Remodeling of Adherens Junctions
    EGF Pathway

    1 Cell Signaling Technology (CST) Pathway for CAV2
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for CAV2
        Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)

    4 BioSystems Pathways for CAV2 
        EGFR1 Signaling Pathway
    Integrin-mediated cell adhesion
    Focal Adhesion
    Syndecan-2-mediated signaling events


    3         Kegg Pathways  (Kegg details for CAV2):
        Endocytosis
    Focal adhesion
    Bacterial invasion of epithelial cells


    CAV2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CAV2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/21 Interacting proteins for CAV2 (P516362, 3 ENSP000002226934) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GOLGB1Q147892, 3, ENSP000003418484MINT-64180 I2D: score=4 STRING: ENSP00000341848
    DNAJA1P316892, 3, ENSP000003691274MINT-8250679 I2D: score=2 STRING: ENSP00000369127
    CAV1Q031353, ENSP000003391914I2D: score=3 STRING: ENSP00000339191
    RASA1P209363, ENSP000002743764I2D: score=2 STRING: ENSP00000274376
    MALLQ130213, ENSP000002724624I2D: score=1 STRING: ENSP00000272462
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001937negative regulation of endothelial cell proliferation ISS--
    GO:0001938positive regulation of endothelial cell proliferation IEA--
    GO:0006906vesicle fusion IDA12743374
    GO:0007005mitochondrion organization ISS--
    GO:0007029endoplasmic reticulum organization ISS--


    CAV2 for ontologies           About GeneDecksing



    (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

    CAV2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CAV2
    10/15 Novoseek chemical compound relationships for CAV2 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesterol 38 12 11907140 (2), 12730355 (1), 12867544 (1), 17303668 (1) (see all 7)
    lipid 34.1 22 12867544 (3), 18081315 (3), 17303668 (2), 12730355 (1) (see all 12)
    tyrosine 28.6 11 15504032 (7), 19895792 (1), 15545264 (1), 12091389 (1)
    sucrose 17.8 2 10600487 (1), 18081315 (1)
    dihydrotestosterone 14.7 1 14576147 (1)
    atp 0 1 11278795 (1)
    nitric oxide 0 2 18717816 (1)
    glucose 0 1 16803459 (1)
    fatty acid 0 3 11278795 (1), 16803459 (1)
    alanine 0 3 15504032 (2), 19778377 (1)

    Search CenterWatch for drugs/clinical trials and news about CAV2 

    (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,
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    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 CAV2 gene (4 alternative transcripts): 
    NM_001206747.1  NM_001206748.1  NM_001233.4  NM_198212.2  

    Unigene Cluster for CAV2:

    Caveolin 2
    Hs.212332  [show with all ESTs]
    Unigene Representative Sequence: NM_001233
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000490906 ENST00000460222 ENST00000477018(uc003vhv.2) ENST00000484156
    ENST00000467035(uc003vhw.2) ENST00000489776(uc003vhs.1) ENST00000484871(uc010lkc.2)
    ENST00000485561(uc010lkb.1) ENST00000472470(uc003vhx.2) ENST00000495046(uc003vht.1)
    ENST00000497046(uc003vhu.1 uc003vhy.1) ENST00000491643 ENST00000498493(uc003via.2)
    ENST00000478226(uc003vib.2) ENST00000462876(uc003vhz.2) ENST00000476156
    ENST00000465451 ENST00000222693(uc003vid.3 uc003vie.3 uc022akj.1)


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    Additional cDNA sequence: 

    AB451285.1 AB451417.1 AF035752.1 AK024513.1 AK310786.1 AK311964.1 AY353255.1 BC005256.1 
    BT007051.1 CR407685.1 DQ656010.2 DQ656011.2 DQ656012.2 DQ656014.2 DQ656016.2 DQ656017.2 
    DQ656068.1 DQ656069.1 EF070113.1 EF070114.1 EF070115.1 EF070120.1 

    14 DOTS entries:

    DT.455952  DT.92438097  DT.100791767  DT.95194984  DT.121641096  DT.97777809  DT.100791766  DT.99941296 
    DT.95285530  DT.99931724  DT.100791770  DT.121091609  DT.99988109  DT.121091577 

    24/188 AceView cDNA sequences (see all 188):

    BE677215 BG777119 BM841156 CD514571 AA486567 AU137817 BM848465 BM840492 
    AA344857 CR407685 AI864109 AY353255 BM760304 AA878149 AA345513 BU687757 
    CD516968 CR604437 AA367026 NM_001233 NM_198212 CF127914 BM838686 BM761773 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CAV2    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c · 4d
    SP1:        -     -           -                                 
    SP2:                          -                                 
    SP3:                          -     -                           
    SP4:                                                            


    ECgene alternative splicing isoforms for CAV2

    (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

    CAV2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGTTTGTTT

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

    About this image

    CAV2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Line H7 (WA07) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CAV2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CAV2

    SOURCE GeneReport for Unigene cluster: Hs.212332

    UniProtKB/Swiss-Prot: CAV2_HUMAN, P51636
    Tissue specificity: Expressed in endothelial cells, smooth muscle cells, skeletal myoblasts and fibroblasts

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    (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 CAV2 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CAV21 caveolin 2 73.71(n)
    66.46(a)
      417772  NM_001007086.1  NP_001007087.1 
    lizard
    (Anolis carolinensis)
    Reptilia CAV26
    --
    59(a)
    1 ↔ 1
    5(60951904-60965260)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.33972 Xenopus laevis transcribed sequence with weak similarity more 74.79(n)    BJ067198.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cav21 caveolin 2 57.14(n)
    50.93(a)
      415240  NM_001002150.1  NP_001002150.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    27(a)
    possible ortholog
    Group11.9(479912-480970)
    worm
    (Caenorhabditis elegans)
    Secernentea cav-16
    cav-26
    Caveolin-2
    16(a)
    13(a)
    1 ↔ 1
    possible ortholog
    IV(9772490-9773454)
    V(13557148-13559910)


    ENSEMBL Gene Tree for CAV2 (if available)
    TreeFam Gene Tree for CAV2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CAV2 gene
    CAV12  CAV32  
    3 SIMAP similar genes for CAV2 using alignment to 3 protein entries:     CAV2_HUMAN (see all proteins):
    caveolin-2    CAV1    CAV3

    CAV2 for paralogs           About GeneDecksing



    (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

    10/253 NCBI SNPs in CAV2 are shown (see all 253    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs47307421,2
    C,F,A,H,--115533295(+) AACAAT/GTCTAG 3 -- us2k120Minor allele frequency- G:0.15NS EA NA WA CSA 2144
    rs132272321,2
    C,--115533595(+) CACCCC/GCAAAC 4 -- us2k12Minor allele frequency- G:0.03NA 122
    rs1122124991,2
    --115533744(+) TACACC/TGTATC 4 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs774652101,2
    C,F,--115533808(+) CCTAGT/ATCTCA 4 -- us2k12Minor allele frequency- A:0.05NA EA 240
    rs1129454801,2
    C,--115534318(+) TGAGCC/TGAGAT 4 -- us2k10--------
    rs1137132721,2
    C,--115534335(+) ATTGCA/CCTCCA 4 -- us2k10--------
    rs27421231,2
    --115534761(+) AGGCAA/C/GCTGAG 4 -- us2k10--------
    rs132218691,2
    C--115535303(+) AGCTCC/TTCATG 6 L F us2k1 ut51 mis10--------
    rs624689931,2
    C,--115536195(+) GCTGAG/ATGTGG 4 -- int13Minor allele frequency- A:0.09NA WA 240
    rs285032221,2
    C,F,--115536362(+) AGAATG/CCCGCT 4 -- int16Minor allele frequency- C:0.16NA WA CSA EA 364

    HapMap Linkage Disequilibrium report for CAV2 (115927434 - 116148595 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CAV2: --

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    (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

    CAV2 for disorders           About GeneDecksing

    OMIM gene information: 601048    OMIM disorders: --

    20/55 diseases for CAV2 (see all 55):    About MalaCards
    open-angle glaucoma    splenic marginal zone lymphoma    primary open anle glaucoma    primary open angle glaucoma
    cerebral amyloid angiopathy    primary biliary cirrhosis    glaucoma    parathyroid adenoma
    esophageal squamous cell carcinoma    squamous cell carcinoma    muscular dystrophy    ulcerative colitis
    hepatopulmonary syndrome    inflammatory breast cancer    pulmonary hypertension    breast cancer
    rheumatoid arthritis    colon cancer    hepatitis c    adenoma

    1 disease from the University of Copenhagen DISEASES database for CAV2:
    Rabies

    10/12 Novoseek disease relationships for CAV2 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 17.2 21 12866378 (4), 9662443 (2), 12620387 (2), 15252854 (2) (see all 10)
    adenocarcinoma 10.2 3 15095482 (1), 15069532 (1), 11345836 (1)
    prostate cancer 2.9 2 12743374 (1)
    adenoma 2.04 3 11345836 (2), 12970324 (1)
    colon cancer 1.66 2 12414992 (1)
    carcinoma squamous cell 0 2 17671707 (2)
    necrosis 0 1 11278795 (1)
    breast cancer 0 15 15305200 (6), 17912630 (3), 18612310 (3)
    metastasis 0 1 16207479 (1)
    bladder cancer 0 1 16909110 (1)

    Genetic Association Database (GAD): CAV2
    Human Genome Epidemiology (HuGE) Navigator: CAV2 (12 documents)

    Export disorders for CAV2 gene to outside databases

    (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 CAV2 gene, integrated from 9 sources (see all 186):
    (articles sorted by number of sources associating them with CAV2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification, sequence, and expression of caveolin-2 defines a caveolin gene family. (PubMed id 8552590)1, 2, 3, 9 Scherer P.E....Lisanti M.P. (1996)
    2. Tyrosine phosphorylation of caveolin-2 at residue 27: differences in the spatial and temporal behavior of phospho-Cav-2 (pY19 and pY27). (PubMed id 15504032)1, 2, 9 Wang X.B....Lisanti M.P. (2004)
    3. Src-induced phosphorylation of caveolin-2 on tyrosine 19. Phospho- caveolin-2 (Tyr(P)19) is localized near focal adhesions, remains associated with lipid rafts/caveolae, but no longer forms a high molecular mass hetero-oligomer with caveolin-1. (PubMed id 12091389)1, 2, 9 Lee H....Lisanti M.P. (2002)
    4. Serine 23 and 36 phosphorylation of caveolin-2 is differentially regulated by targeting to lipid raft/caveolae and in mitotic endothelial cells. (PubMed id 18081315)1, 2, 9 Sowa G....Sessa W.C. (2008)
    5. Cell-type and tissue-specific expression of caveolin-2. Caveolins 1 and 2 co-localize and form a stable hetero-oligomeric complex in vivo. (PubMed id 9361015)1, 2, 9 Scherer P.E.... Lisanti M.P. (1997)
    6. Analysis of candidate genes for prostate cancer. (PubMed id 15583422)1, 4, 9 Burmester J.K....Catalona W.J. (2004)
    7. Human caveolin-1 and caveolin-2 are closely linked genes colocalized with WI-5336 in a region of 7q31 frequently deleted in tumors. (PubMed id 10087206)1, 3, 9 Fra A.M....Sitia R. (1999)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    10. Sequence and detailed organization of the human caveolin-1 and -2 genes located near the D7S522 locus (7q31.1). Methylation of a CpG island in the 5' promoter region of the caveolin-1 gene in human breast cancer cell lines. (PubMed id 10218480)1, 2 Engelman J.A.... Lisanti M.P. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 858 HGNC: 1528 AceView: CAV2 Ensembl:ENSG00000105971 euGenes: HUgn858
    ECgene: CAV2 Kegg: 858 H-InvDB: CAV2

    (According to HUGE)
    About This Section
      --

    (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 CAV2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CAV2 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Caveolin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CAV2 gene:
    Search GeneIP for patents involving CAV2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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