Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CAV3 (caveolin 3)

Identity

Alias (NCBI)LGMD1C
LQT9
MPDT
RMD2
VIP-21
VIP21
HGNC (Hugo) CAV3
HGNC Alias symbVIP-21
LGMD1C
VIP21
LQT9
HGNC Alias nameM-caveolin
LocusID (NCBI) 859
Atlas_Id 43996
Location 3p25.3  [Link to chromosome band 3p25]
Location_base_pair Starts at 8733802 and ends at 8746758 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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
LRG (Locus Reference Genomic)LRG_329
Cards
Entrez_Gene (NCBI)CAV3  859  caveolin 3
AliasesLGMD1C; LQT9; MPDT; RMD2; 
VIP-21; VIP21
GeneCards (Weizmann)CAV3
Ensembl hg19 (Hinxton)ENSG00000182533 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182533 [Gene_View]  ENSG00000182533 [Sequence]  chr3:8733802-8746758 [Contig_View]  CAV3 [Vega]
ICGC DataPortalENSG00000182533
TCGA cBioPortalCAV3
AceView (NCBI)CAV3
Genatlas (Paris)CAV3
WikiGenes859
SOURCE (Princeton)CAV3
Genetics Home Reference (NIH)CAV3
Genomic and cartography
GoldenPath hg38 (UCSC)CAV3  -     chr3:8733802-8746758 +  3p25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAV3  -     3p25.3   [Description]    (hg19-Feb_2009)
GoldenPathCAV3 - 3p25.3 [CytoView hg19]  CAV3 - 3p25.3 [CytoView hg38]
ImmunoBaseENSG00000182533
genome Data Viewer NCBICAV3 [Mapview hg19]  
OMIM123320   192600   601253   606072   611818   614321   
Gene and transcription
Genbank (Entrez)AA993189 AF036365 AF043101 AK291892 BC069368
RefSeq transcript (Entrez)NM_001234 NM_033337
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAV3
Alternative Splicing GalleryENSG00000182533
Gene ExpressionCAV3 [ NCBI-GEO ]   CAV3 [ EBI - ARRAY_EXPRESS ]   CAV3 [ SEEK ]   CAV3 [ MEM ]
Gene Expression Viewer (FireBrowse)CAV3 [ Firebrowse - Broad ]
GenevisibleExpression of CAV3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)859
GTEX Portal (Tissue expression)CAV3
Human Protein AtlasENSG00000182533-CAV3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56539   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP56539  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP56539
Splice isoforms : SwissVarP56539
PhosPhoSitePlusP56539
Domaine pattern : Prosite (Expaxy)CAVEOLIN (PS01210)   
Domains : Interpro (EBI)CAV-3    Caveolin    Caveolin_CS   
Domain families : Pfam (Sanger)Caveolin (PF01146)   
Domain families : Pfam (NCBI)pfam01146   
Conserved Domain (NCBI)CAV3
DMDM Disease mutations859
Blocks (Seattle)CAV3
SuperfamilyP56539
Human Protein Atlas [tissue]ENSG00000182533-CAV3 [tissue]
Peptide AtlasP56539
HPRD03154
IPIIPI00790433   
Protein Interaction databases
DIP (DOE-UCLA)P56539
IntAct (EBI)P56539
FunCoupENSG00000182533
BioGRIDCAV3
STRING (EMBL)CAV3
ZODIACCAV3
Ontologies - Pathways
QuickGOP56539
Ontology : AmiGOGolgi membrane  plasma membrane repair  regulation of heart rate  calcium channel regulator activity  protein binding  endoplasmic reticulum  plasma membrane  plasma membrane  integral component of plasma membrane  caveola  caveola  focal adhesion  negative regulation of protein kinase activity  triglyceride metabolic process  endocytosis  muscle contraction  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  intercalated disc  regulation of skeletal muscle contraction  dystrophin-associated glycoprotein complex  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  cell differentiation  T-tubule  positive regulation of microtubule polymerization  cytoplasmic microtubule organization  membrane raft organization  neuromuscular junction  vesicle  T-tubule organization  detection of muscle stretch  regulation of signal transduction by receptor internalization  sarcolemma  regulation of membrane potential  regulation of membrane potential  glucose homeostasis  cholesterol homeostasis  alpha-tubulin binding  intracellular membrane-bounded organelle  negative regulation of MAP kinase activity  negative regulation of MAPK cascade  ion channel binding  ion channel binding  protein-containing complex 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  regulation of cytosolic calcium ion concentration  nucleus localization  regulation of protein kinase B signaling  negative regulation of calcium ion transport  cardiac muscle cell development  regulation of cardiac muscle contraction  molecular adaptor activity  molecular adaptor activity  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  caveola assembly  connexin binding  connexin binding  cellular response to organonitrogen compound  protein localization to plasma membrane  ventricular cardiac muscle cell action potential  regulation of calcium ion import  regulation of cardiac muscle cell action potential involved in regulation of contraction  regulation of p38MAPK cascade  regulation of membrane depolarization during cardiac muscle cell action potential  regulation of membrane depolarization during cardiac muscle cell action potential  negative 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 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  plasma membrane  integral component of plasma membrane  caveola  caveola  focal adhesion  negative regulation of protein kinase activity  triglyceride metabolic process  endocytosis  muscle contraction  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  intercalated disc  regulation of skeletal muscle contraction  dystrophin-associated glycoprotein complex  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  cell differentiation  T-tubule  positive regulation of microtubule polymerization  cytoplasmic microtubule organization  membrane raft organization  neuromuscular junction  vesicle  T-tubule organization  detection of muscle stretch  regulation of signal transduction by receptor internalization  sarcolemma  regulation of membrane potential  regulation of membrane potential  glucose homeostasis  cholesterol homeostasis  alpha-tubulin binding  intracellular membrane-bounded organelle  negative regulation of MAP kinase activity  negative regulation of MAPK cascade  ion channel binding  ion channel binding  protein-containing complex 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  regulation of cytosolic calcium ion concentration  nucleus localization  regulation of protein kinase B signaling  negative regulation of calcium ion transport  cardiac muscle cell development  regulation of cardiac muscle contraction  molecular adaptor activity  molecular adaptor activity  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  caveola assembly  connexin binding  connexin binding  cellular response to organonitrogen compound  protein localization to plasma membrane  ventricular cardiac muscle cell action potential  regulation of calcium ion import  regulation of cardiac muscle cell action potential involved in regulation of contraction  regulation of p38MAPK cascade  regulation of membrane depolarization during cardiac muscle cell action potential  regulation of membrane depolarization during cardiac muscle cell action potential  negative 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 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   
NDEx NetworkCAV3
Atlas of Cancer Signalling NetworkCAV3
Wikipedia pathwaysCAV3
Orthology - Evolution
OrthoDB859
GeneTree (enSembl)ENSG00000182533
Phylogenetic Trees/Animal Genes : TreeFamCAV3
HOGENOMP56539
Homologs : HomoloGeneCAV3
Homology/Alignments : Family Browser (UCSC)CAV3
Gene fusions - Rearrangements
Fusion : QuiverCAV3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAV3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAV3
dbVarCAV3
ClinVarCAV3
MonarchCAV3
1000_GenomesCAV3 
Exome Variant ServerCAV3
GNOMAD BrowserENSG00000182533
Varsome BrowserCAV3
Genetic variants : HAPMAP859
Genomic Variants (DGV)CAV3 [DGVbeta]
DECIPHERCAV3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAV3 
Mutations
ICGC Data PortalCAV3 
TCGA Data PortalCAV3 
Broad Tumor PortalCAV3
OASIS PortalCAV3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAV3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCAV3
Mutations and Diseases : HGMDCAV3
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
BioMutasearch CAV3
DgiDB (Drug Gene Interaction Database)CAV3
DoCM (Curated mutations)CAV3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAV3 (select a term)
intoGenCAV3
Cancer3DCAV3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123320    192600    601253    606072    611818    614321   
Orphanet8721    12861    14727   
DisGeNETCAV3
MedgenCAV3
Genetic Testing Registry CAV3
NextProtP56539 [Medical]
TSGene859
GENETestsCAV3
Target ValidationCAV3
Huge Navigator CAV3 [HugePedia]
snp3D : Map Gene to Disease859
BioCentury BCIQCAV3
ClinGenCAV3
Clinical trials, drugs, therapy
Protein Interactions : CTD859
Pharm GKB GenePA26109
Clinical trialCAV3
Miscellaneous
canSAR (ICR)CAV3 (select the gene name)
HarmonizomeCAV3
DataMed IndexCAV3
Probes
Litterature
PubMed132 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAV3
EVEXCAV3
GoPubMedCAV3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 14 14:04:27 CEST 2020
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