Gene Gene information from NCBI Gene database.
Entrez ID 858
Gene name Caveolin 2
Gene symbol CAV2
Synonyms (NCBI Gene)
CAV
Chromosome 7
Chromosome location 7q31.2
Summary 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 a
miRNA miRNA information provided by mirtarbase database.
398
miRTarBase ID miRNA Experiments Reference
MIRT006655 hsa-miR-199a-3p Luciferase reporter assayqRT-PCRWestern blot 21807947
MIRT006655 hsa-miR-199a-3p Luciferase reporter assayqRT-PCRWestern blot 21807947
MIRT006655 hsa-miR-199a-3p Luciferase reporter assayqRT-PCRWestern blot 21807947
MIRT006655 hsa-miR-199a-3p Luciferase reporter assayqRT-PCRWestern blot 21807947
MIRT028136 hsa-miR-93-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001935 Process Endothelial cell proliferation IEA
GO:0001937 Process Negative regulation of endothelial cell proliferation IBA
GO:0001937 Process Negative regulation of endothelial cell proliferation IEA
GO:0001937 Process Negative regulation of endothelial cell proliferation ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601048 1528 ENSG00000105971
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51636
Protein name Caveolin-2
Protein 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 driv
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01146 Caveolin 16 160 Caveolin Family
Tissue specificity TISSUE SPECIFICITY: Expressed in endothelial cells, smooth muscle cells, skeletal myoblasts and fibroblasts. {ECO:0000269|PubMed:9361015}.
Sequence
Sequence length 162
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis
Focal adhesion
Prion disease
Bacterial invasion of epithelial cells
Proteoglycans in cancer
Fluid shear stress and atherosclerosis
  Extra-nuclear estrogen signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS ClinGen, Disgenet, GWAS catalog
ClinGen, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 22142809, 29343717 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 22422066, 29852412
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 14522500 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 20062060, 24239840
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 20062060
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial fibrillation Pubtator 20062060, 24239840 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases BEFREE 30543678
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 30707892
★☆☆☆☆
Found in Text Mining only
Biliary cirrhosis Biliary cirrhosis LHGDN 15968725
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 24581832
★☆☆☆☆
Found in Text Mining only