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CAV2 caveolin 2 [ Homo sapiens (human) ]

Gene ID: 858, updated on 6-Nov-2022

Summary

Official Symbol
CAV2provided by HGNC
Official Full Name
caveolin 2provided by HGNC
Primary source
HGNC:HGNC:1528
See related
Ensembl:ENSG00000105971 MIM:601048; AllianceGenome:HGNC:1528
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
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Genomic context

See CAV2 in Genome Data Viewer
Location:
7q31.2
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (116499738..116508541)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (117814806..117823607)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (116139792..116148595)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986838 Neighboring gene greater CFTR locus negative regulatory element NR1 Neighboring gene greater CFTR locus negative regulatory element CR2 Neighboring gene Sharpr-MPRA regulatory region 4219 Neighboring gene Sharpr-MPRA regulatory region 9016 Neighboring gene Sharpr-MPRA regulatory region 15503 Neighboring gene caveolin 1

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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

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
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein-macromolecule adaptor activity IEA
Inferred from Electronic Annotation
more info
 
enables scaffold protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in basement membrane organization IEA
Inferred from Electronic Annotation
more info
 
involved_in caveola assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in caveola assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in caveola assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endoplasmic reticulum organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in insulin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mitochondrion organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of endothelial cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of endothelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of skeletal muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation by host of viral process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of dopamine receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of endothelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in receptor-mediated endocytosis of virus by host cell IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of mitotic nuclear division IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in skeletal muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle fiber development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in vesicle docking IDA
Inferred from Direct Assay
more info
PubMed 
involved_in vesicle fusion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in vesicle organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in viral release from host cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
located_in acrosomal membrane IEA
Inferred from Electronic Annotation
more info
 
located_in caveola IDA
Inferred from Direct Assay
more info
PubMed 
part_of caveolar macromolecular signaling complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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 
located_in membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
is_active_in perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in transport vesicle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
caveolin-2
Names
caveolae protein, 20-kD

NCBI Reference Sequences (RefSeq)

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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
    5138..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, Q9UGM7
    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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    117814806..117823607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)