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CAV2 caveolin 2 [ Homo sapiens (human) ]

Gene ID: 858, updated on 17-Jun-2019

Summary

Official Symbol
CAV2provided by HGNC
Official Full Name
caveolin 2provided by HGNC
Primary source
HGNC:HGNC:1528
See related
Ensembl:ENSG00000105971 MIM:601048
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAV
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 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]
Expression
Broad expression in fat (RPKM 133.6), lung (RPKM 106.3) and 17 other tissues See more
Orthologs

Genomic context

See CAV2 in Genome Data Viewer
Location:
7q31.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (116499738..116508541)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (116139655..116148595)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986838 Neighboring gene uncharacterized LOC107986839 Neighboring gene greater CFTR locus negative regulatory element CR2 Neighboring gene caveolin 1 Neighboring gene long intergenic non-protein coding RNA 1510 Neighboring gene greater CFTR locus negative regulatory element NR2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
NHGRI GWA Catalog
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
NHGRI GWA Catalog
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
NHGRI GWA Catalog
Genome-wide association study of PR interval.
NHGRI GWA Catalog
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of caveolin 2 (CAV2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed
Knockdown of caveolin 2 (CAV2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
    Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
    Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
    Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
  • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
    Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Integrin-mediated Cell Adhesion, organism-specific biosystem (from WikiPathways)
    Integrin-mediated Cell Adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Syndecan-2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Syndecan-2-mediated signaling events, organism-specific biosystem
    Syndecan-2-mediated signaling events

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC12294

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
scaffold protein binding IEA
Inferred from Electronic Annotation
more info
 
structural molecule activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
caveola assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
caveola assembly IDA
Inferred from Direct Assay
more info
PubMed 
caveola assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum organization ISS
Inferred from Sequence or Structural Similarity
more info
 
insulin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion organization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endothelial cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of endothelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation by host of viral process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation by host of viral release from host cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of dopamine receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
protein complex oligomerization IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis of virus by host cell IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of mitotic nuclear division IEP
Inferred from Expression Pattern
more info
PubMed 
skeletal muscle fiber development ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle docking IDA
Inferred from Direct Assay
more info
PubMed 
vesicle fusion IDA
Inferred from Direct Assay
more info
PubMed 
vesicle organization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
acrosomal membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with caveola IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
caveola IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with protein-containing complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transport vesicle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
caveolin-2
Names
caveolae protein, 20-kD
caveolin 2 isoform a and b

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029920.1 RefSeqGene

    Range
    5001..13941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206747.2NP_001193676.1  caveolin-2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes two isoforms resulting from the use of alternate in-frame, translation initiation codons. This RefSeq represents the shorter isoform (b, also known as beta) derived from the use of the downstream AUG (at nt 221-223). Isoform beta has been shown to localize almost exclusively in lipid droplets (PMID:11238462).
    Source sequence(s)
    AC006159, AK024513, AY353255, BC005256, BX350116
    UniProtKB/Swiss-Prot
    P51636
    Conserved Domains (1) summary
    pfam01146
    Location:26147
    Caveolin; Caveolin
  2. NM_001206748.2NP_001193677.1  caveolin-2 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs at the 5' end compared to variant 1, and initiates translation from an in-frame downstream AUG, resulting in an isoform (d) with a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AC006159, AK024513, BC005256, BX350116, DA882274
    UniProtKB/Swiss-Prot
    P51636
    Conserved Domains (1) summary
    pfam01146
    Location:177
    Caveolin; Caveolin
  3. NM_001233.5NP_001224.1  caveolin-2 isoform a

    See identical proteins and their annotated locations for NP_001224.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes two isoforms resulting from the use of alternate in-frame, translation initiation codons. This RefSeq represents the longer isoform (a, also known as alpha) derived from the use of the upstream AUG (at nt 182-184). Isoform alpha has been shown to localize mostly in the golgi (PMID:11238462).
    Source sequence(s)
    AC006159, AK024513, AY353255, BC005256, BX350116
    Consensus CDS
    CCDS5766.1
    UniProtKB/Swiss-Prot
    P51636
    UniProtKB/TrEMBL
    Q53X57
    Related
    ENSP00000222693.4, ENST00000222693.5
    Conserved Domains (1) summary
    pfam01146
    Location:39160
    Caveolin; Caveolin
  4. NM_198212.3NP_937855.1  caveolin-2 isoform c

    See identical proteins and their annotated locations for NP_937855.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a coding exon compared to variant 1. This results in a frame-shift and a shorter isoform (c) with a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC006159, AK024513, AK310786, AY353255, BC005256, BX350116
    Consensus CDS
    CCDS5765.1
    UniProtKB/Swiss-Prot
    P51636
    Related
    ENSP00000345679.2, ENST00000343213.2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    116499738..116508541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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