Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CAV3 (caveolin 3)

Identity

Other namesLGMD1C
LQT9
VIP-21
VIP21
HGNC (Hugo) CAV3
LocusID (NCBI) 859
Location 3p25.3
Location_base_pair Starts at 8775486 and ends at 8788451 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)CAV3   1529
Cards
Entrez_Gene (NCBI)CAV3  859  caveolin 3
GeneCards (Weizmann)CAV3
Ensembl hg19 (Hinxton)ENSG00000182533 [Gene_View]  chr3:8775486-8788451 [Contig_View]  CAV3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000182533 [Gene_View]  chr3:8775486-8788451 [Contig_View]  CAV3 [Vega]
ICGC DataPortalENSG00000182533
cBioPortalCAV3
AceView (NCBI)CAV3
Genatlas (Paris)CAV3
WikiGenes859
SOURCE (Princeton)CAV3
Genomic and cartography
GoldenPath hg19 (UCSC)CAV3  -     chr3:8775486-8788451 +  3p25.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CAV3  -     3p25.3   [Description]    (hg38-Dec_2013)
EnsemblCAV3 - 3p25.3 [CytoView hg19]  CAV3 - 3p25.3 [CytoView hg38]
Mapping of homologs : NCBICAV3 [Mapview hg19]  CAV3 [Mapview hg38]
OMIM123320   192600   601253   606072   607801   611818   614321   
Gene and transcription
Genbank (Entrez)AA993189 AF036365 AF043101 AK291892 BC069368
RefSeq transcript (Entrez)NM_001234 NM_033337
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_008797 NT_022517 NW_001838876 NW_004929309
Consensus coding sequences : CCDS (NCBI)CAV3
Cluster EST : UnigeneHs.98303 [ NCBI ]
CGAP (NCI)Hs.98303
Alternative Splicing : Fast-db (Paris)GSHG0020556
Alternative Splicing GalleryENSG00000182533
Gene ExpressionCAV3 [ NCBI-GEO ]     CAV3 [ SEEK ]   CAV3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56539 (Uniprot)
NextProtP56539  [Medical]
With graphics : InterProP56539
Splice isoforms : SwissVarP56539 (Swissvar)
Domaine pattern : Prosite (Expaxy)CAVEOLIN (PS01210)   
Domains : Interpro (EBI)Caveolin    Caveolin_CS   
Related proteins : CluSTrP56539
Domain families : Pfam (Sanger)Caveolin (PF01146)   
Domain families : Pfam (NCBI)pfam01146   
DMDM Disease mutations859
Blocks (Seattle)P56539
Human Protein AtlasENSG00000182533
Peptide AtlasP56539
HPRD03154
IPIIPI00790433   
Protein Interaction databases
DIP (DOE-UCLA)P56539
IntAct (EBI)P56539
FunCoupENSG00000182533
BioGRIDCAV3
IntegromeDBCAV3
STRING (EMBL)CAV3
Ontologies - Pathways
QuickGOP56539
Ontology : AmiGOGolgi membrane  plasma membrane repair  regulation of heart rate  calcium channel regulator activity  protein binding  endoplasmic reticulum  plasma membrane  caveola  negative regulation of protein kinase activity  triglyceride metabolic process  endocytosis  plasma membrane organization  actin filament organization  positive regulation of cytosolic calcium ion concentration  muscle organ development  myoblast fusion  regulation of heart contraction  protein C-terminus binding  protein localization  positive regulation of cell proliferation  cell surface  negative regulation of cardiac muscle hypertrophy  positive regulation of myotube differentiation  regulation of skeletal muscle contraction  dystrophin-associated glycoprotein complex  cell growth  regulation of transforming growth factor beta receptor signaling pathway  sodium channel regulator activity  sodium channel regulator activity  potassium channel inhibitor activity  Z disc  cell differentiation  T-tubule  positive regulation of microtubule polymerization  cytoplasmic microtubule organization  membrane raft organization  neuromuscular junction  vesicle  protein complex binding  protein complex scaffold  protein complex scaffold  T-tubule organization  regulation of signal transduction by receptor internalization  sarcolemma  regulation of membrane potential  glucose homeostasis  cholesterol homeostasis  alpha-tubulin binding  negative regulation of MAP kinase activity  negative regulation of MAPK cascade  ion channel binding  membrane raft  negative regulation of cell size  muscle cell cellular homeostasis  nitric-oxide synthase binding  negative regulation of nitric-oxide synthase activity  regulation of nerve growth factor receptor activity  nucleus localization  regulation of protein kinase B signaling  negative regulation of calcium ion transport  cardiac muscle cell development  regulation of cardiac muscle contraction  negative regulation of sarcomere organization  regulation of ventricular cardiac muscle cell membrane repolarization  heart trabecula formation  regulation of ventricular cardiac muscle cell membrane depolarization  regulation of branching involved in mammary gland duct morphogenesis  negative regulation of cell growth involved in cardiac muscle cell development  caveola assembly  connexin binding  protein localization to plasma membrane  ventricular cardiac muscle cell action potential  establishment of protein localization to plasma membrane  regulation of calcium ion import  regulation of p38MAPK cascade  regulation of membrane depolarization during cardiac muscle cell action potential  negative regulation of potassium ion transmembrane transporter activity  regulation of calcium ion transmembrane transporter activity  negative regulation of potassium ion transmembrane transport  negative regulation of protein localization to cell surface  positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process  regulation of sodium ion transmembrane transporter activity  positive regulation of caveolin-mediated endocytosis  
Ontology : EGO-EBIGolgi membrane  plasma membrane repair  regulation of heart rate  calcium channel regulator activity  protein binding  endoplasmic reticulum  plasma membrane  caveola  negative regulation of protein kinase activity  triglyceride metabolic process  endocytosis  plasma membrane organization  actin filament organization  positive regulation of cytosolic calcium ion concentration  muscle organ development  myoblast fusion  regulation of heart contraction  protein C-terminus binding  protein localization  positive regulation of cell proliferation  cell surface  negative regulation of cardiac muscle hypertrophy  positive regulation of myotube differentiation  regulation of skeletal muscle contraction  dystrophin-associated glycoprotein complex  cell growth  regulation of transforming growth factor beta receptor signaling pathway  sodium channel regulator activity  sodium channel regulator activity  potassium channel inhibitor activity  Z disc  cell differentiation  T-tubule  positive regulation of microtubule polymerization  cytoplasmic microtubule organization  membrane raft organization  neuromuscular junction  vesicle  protein complex binding  protein complex scaffold  protein complex scaffold  T-tubule organization  regulation of signal transduction by receptor internalization  sarcolemma  regulation of membrane potential  glucose homeostasis  cholesterol homeostasis  alpha-tubulin binding  negative regulation of MAP kinase activity  negative regulation of MAPK cascade  ion channel binding  membrane raft  negative regulation of cell size  muscle cell cellular homeostasis  nitric-oxide synthase binding  negative regulation of nitric-oxide synthase activity  regulation of nerve growth factor receptor activity  nucleus localization  regulation of protein kinase B signaling  negative regulation of calcium ion transport  cardiac muscle cell development  regulation of cardiac muscle contraction  negative regulation of sarcomere organization  regulation of ventricular cardiac muscle cell membrane repolarization  heart trabecula formation  regulation of ventricular cardiac muscle cell membrane depolarization  regulation of branching involved in mammary gland duct morphogenesis  negative regulation of cell growth involved in cardiac muscle cell development  caveola assembly  connexin binding  protein localization to plasma membrane  ventricular cardiac muscle cell action potential  establishment of protein localization to plasma membrane  regulation of calcium ion import  regulation of p38MAPK cascade  regulation of membrane depolarization during cardiac muscle cell action potential  negative regulation of potassium ion transmembrane transporter activity  regulation of calcium ion transmembrane transporter activity  negative regulation of potassium ion transmembrane transport  negative regulation of protein localization to cell surface  positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process  regulation of sodium ion transmembrane transporter activity  positive regulation of caveolin-mediated endocytosis  
Pathways : KEGGEndocytosis    Focal adhesion    Bacterial invasion of epithelial cells    Proteoglycans in cancer   
Protein Interaction DatabaseCAV3
DoCM (Curated mutations)CAV3
Wikipedia pathwaysCAV3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCAV3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAV3
dbVarCAV3
ClinVarCAV3
1000_GenomesCAV3 
Exome Variant ServerCAV3
SNP (GeneSNP Utah)CAV3
SNP : HGBaseCAV3
Genetic variants : HAPMAPCAV3
Genomic VariantsCAV3  CAV3 [DGVbeta]
Mutations
ICGC Data PortalENSG00000182533 
Somatic Mutations in Cancer : COSMICCAV3 
CONAN: Copy Number AnalysisCAV3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:8775486-8788451
Mutations and Diseases : HGMDCAV3
OMIM123320    192600    601253    606072    607801    611818    614321   
MedgenCAV3
NextProtP56539 [Medical]
GENETestsCAV3
Disease Genetic AssociationCAV3
Huge Navigator CAV3 [HugePedia]  CAV3 [HugeCancerGEM]
snp3D : Map Gene to Disease859
DGIdb (Drug Gene Interaction db)CAV3
General knowledge
Homologs : HomoloGeneCAV3
Homology/Alignments : Family Browser (UCSC)CAV3
Phylogenetic Trees/Animal Genes : TreeFamCAV3
Chemical/Protein Interactions : CTD859
Chemical/Pharm GKB GenePA26109
Clinical trialCAV3
Cancer Resource (Charite)ENSG00000182533
Other databases
Probes
Litterature
PubMed105 Pubmed reference(s) in Entrez
CoreMineCAV3
GoPubMedCAV3
iHOPCAV3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:38:10 CET 2014
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