CAV2 caveolin 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 7q31.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (116499738..116508541)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (117814806..117823607)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (116139792..116148595)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biochemical and Biophysical Characterization of the Caveolin-2 Interaction with Membranes and Analysis of the Protein Structural Alteration by the Presence of Cholesterol.
Title: Biochemical and Biophysical Characterization of the Caveolin-2 Interaction with Membranes and Analysis of the Protein Structural Alteration by the Presence of Cholesterol.
Identification of prognostic lipid droplet-associated genes in pancreatic cancer patients via bioinformatics analysis.
Title: Identification of prognostic lipid droplet-associated genes in pancreatic cancer patients via bioinformatics analysis.
A genetic variant conferred high expression of CAV2 promotes pancreatic cancer progression and associates with poor prognosis.
Title: A genetic variant conferred high expression of CAV2 promotes pancreatic cancer progression and associates with poor prognosis.
Association of the CAV1-CAV2 locus with normal-tension glaucoma in Chinese and Japanese.
Title: Association of the CAV1-CAV2 locus with normal-tension glaucoma in Chinese and Japanese.
Caveolin proteins electrochemical oxidation and interaction with cholesterol.
Title: Caveolin proteins electrochemical oxidation and interaction with cholesterol.
Genetic prediction models for primary open-angle glaucoma: translational research.
Title: Genetic prediction models for primary open-angle glaucoma: translational research.
No differences were observed for genotype and allele distributions in relation to rs4236601 in the CAV1/CAV2 region. The association of rs2157719 (CDKN2B-AS1) with the primary open angle glaucoma (POAG) phenotype corroborates previously published results, reinforcing the importance of this variant in POAG etiology.
Title: Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil.
MiR-29a was negatively correlated with both MUC16 expression and serum CA125 levels.
Title: MiR-29a, targeting caveolin 2 expression, is responsible for limitation of pancreatic cancer metastasis in patients with normal level of serum CA125.
Cav-2beta isoform yielded by alternative translation initiation desensitizes insulin receptor (IR) via dephosphorylation by PTP1B, and subsequent endocytosis and lysosomal degradation of IR, causing insulin resistance.
Title: Alternative translation initiation of Caveolin-2 desensitizes insulin signaling through dephosphorylation of insulin receptor by PTP1B and causes insulin resistance.
Results verified the presence of transcript III of cav-2 for the first time, but no protein associated was found. Also, a decreasing trend of cav-2 (transcripts I and II) were observed in tumoral tissues especially in stages I and II and seem to be associated with the incidence and promotion of breast cancer, especially in the initial stages of breast cancer.
Title: The diversity in the expression profile of caveolin II transcripts, considering its new transcript in breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN66896 (e-PCR)
- UniSTS:391696

REN66897 (e-PCR)
- UniSTS:391697

REN66898 (e-PCR)
- UniSTS:391698

REN66899 (e-PCR)
- UniSTS:391699

RH80255 (e-PCR)
- UniSTS:84244

ECD07996 (e-PCR)
- UniSTS:289044

REN66900 (e-PCR)
- UniSTS:391700

RH65870 (e-PCR)
- UniSTS:42773

REN66901 (e-PCR)
- UniSTS:391701

REN66902 (e-PCR)
- UniSTS:391702

REN66903 (e-PCR)
- UniSTS:391703

REN66904 (e-PCR)
- UniSTS:391704

REN66905 (e-PCR)
- UniSTS:391705

REN66906 (e-PCR)
- UniSTS:391706

REN66907 (e-PCR)
- UniSTS:391707

REN66908 (e-PCR)
- UniSTS:391708

REN66909 (e-PCR)
- UniSTS:391709

REN66910 (e-PCR)
- UniSTS:391710

REN66911 (e-PCR)
- UniSTS:391711

REN66912 (e-PCR)
- UniSTS:391712

REN66913 (e-PCR)
- UniSTS:391713

REN66914 (e-PCR)
- UniSTS:391714

REN66915 (e-PCR)
- UniSTS:391715

ECD14439 (e-PCR)
- UniSTS:295460

REN66916 (e-PCR)
- UniSTS:391716

REN66917 (e-PCR)
- UniSTS:391717

REN66918 (e-PCR)
- UniSTS:391718

REN66919 (e-PCR)
- UniSTS:391719

ECD20349 (e-PCR)
- UniSTS:301352

REN66920 (e-PCR)
- UniSTS:391720

ECD19323 (e-PCR)
- UniSTS:300329

REN66921 (e-PCR)
- UniSTS:391721

REN66922 (e-PCR)
- UniSTS:391722

D7S2814 (e-PCR)
- UniSTS:17195

REN66923 (e-PCR)
- UniSTS:391723

REN66924 (e-PCR)
- UniSTS:391724

REN66925 (e-PCR)
- UniSTS:391725

REN66926 (e-PCR)
- UniSTS:391726

REN66927 (e-PCR)
- UniSTS:391727

REN66928 (e-PCR)
- UniSTS:391728

REN66929 (e-PCR)
- UniSTS:391729

REN66930 (e-PCR)
- UniSTS:391730

D8S2279 (e-PCR)
- UniSTS:473907

REN66931 (e-PCR)
- UniSTS:391731

REN66932 (e-PCR)
- UniSTS:391732

REN66933 (e-PCR)
- UniSTS:391733

REN66934 (e-PCR)
- UniSTS:391734

REN66935 (e-PCR)
- UniSTS:391735

stSG597947 (e-PCR)
- UniSTS:442696

stSG597948 (e-PCR)
- UniSTS:442697

D1S1423 (e-PCR)
- UniSTS:149619

ECD24037 (e-PCR)
- UniSTS:305021

D11S3114 (e-PCR)
- UniSTS:152207

ECD09413 (e-PCR)
- UniSTS:290456

CAV2_2353 (e-PCR)
- UniSTS:280475

ECD02483 (e-PCR)
- UniSTS:283581

ECD02752 (e-PCR)
- UniSTS:283846

ECD02241 (e-PCR)
- UniSTS:283341

L17708 (e-PCR)
- UniSTS:35795

STS-U32114 (e-PCR)
- UniSTS:18671

ECD07958 (e-PCR)
- UniSTS:289007

ECD03836 (e-PCR)
- UniSTS:284916

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D1 dopamine receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables heterotrimeric G-protein binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular adaptor activity	IEA Inferred from Electronic Annotation more info
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
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
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 G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within basement membrane organization	IEA Inferred from Electronic Annotation more info
involved_in caveola assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in caveola assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in caveola assembly	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of cell population proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endoplasmic reticulum organization	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum organization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of 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
involved_in insulin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of_or_within negative regulation of endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endothelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of skeletal muscle cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within 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 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
acts_upstream_of_or_within 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
involved_in regulation of mitotic nuclear division	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of skeletal muscle cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle fiber development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of 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
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
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
located_in caveola	IEA Inferred from Electronic Annotation more info
part_of caveolar macromolecular signaling complex	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with focal adhesion	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with focal adhesion	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
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
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane raft	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
located_in transport vesicle	IDA Inferred from Direct Assay more info

General protein information

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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

NG_029920.1 RefSeqGene

Range

5138..13941

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001206747.2 → NP_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:26 → 147

Caveolin; Caveolin
NM_001206748.2 → NP_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:1 → 77

Caveolin; Caveolin
NM_001233.5 → NP_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

A4D0U2, P51636, Q9UGM7

UniProtKB/TrEMBL

Q53X57

Related

ENSP00000222693.4, ENST00000222693.5

Conserved Domains (1) summary

pfam01146
Location:39 → 160

Caveolin; Caveolin
NM_198212.3 → NP_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