• Gene id: 858

Gene Summary

• Gene Symbol: CAV2   Gene   UCSC   Ensembl
• Aliases: CAV
• Gene name: caveolin 2
• Alternate names: caveolin-2, caveolae protein, 20-kD, caveolin 2 isoform a and b,
• Gene location: 7q31.2 (116499737: 116508540)     Exons: 6     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 601048

SNPs

rs3749474

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55434518C>T
NC_000004.11   g.56300685C>T
NM_004898.4   c.*897G>A
NM_004898.3   c.*897G>A
XM_011534409.2   c.*897G>A
XM_005265787.2   c.*897G>A
XM_005265787.1   c.*897G>A
XM_011534410.2   c.*897G>A
XM_011534411.2   c.*897G>A
NM_001267843.1   c.*897G>A
XM  

rs1801260

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55435202A>G
NC_000004.11   g.56301369A>G
NM_004898.4   c.*213T>C
NM_004898.3   c.*213T>C
XM_011534409.2   c.*213T>C
XM_005265787.2   c.*213T>C
XM_005265787.1   c.*213T>C
XM_011534410.2   c.*213T>C
XM_011534411.2   c.*213T>C
NM_001267843.1   c.*213T>C
XM  

rs6811520

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55449011T>C
NC_000004.11   g.56315178T>C|SEQ=[T/C]|GENE=CLOCK
TMEM165   55858

Protein Summary

• Protein general information: P51636  
  • Name: Caveolin 2
  • Length: 162  
  • Mass: 18291
  • Tissue specificity: Expressed in endothelial cells, smooth muscle cells, skeletal myoblasts and fibroblasts. {ECO
• Sequence:

  MGLETEKADVQLFMDDDSYSHHSGLEYADPEKFADSDQDRDPHRLNSHLKLGFEDVIAEPVTTHSFDKVWICSHA
  LFEISKYVMYKFLTVFLAIPLAFIAGILFATLSCLHIWILMPFVKTCLMVLPSVQTIWKSVTDVIIAPLCTSVGR
  CFSSVSLQLSQD

• Structural information:
  • Interpro: IPR033306  IPR001612  IPR018361  
  • Prosite: PS01210
  • DIP: 34929
  • STRING: ENSP00000222693
• Other Databases: GeneCards:  CAV2  Malacards:  CAV2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045121	membrane raft	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0019065	receptor-mediated endocytosis of virus by host cell	IGI	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005925	focal adhesion	IBA	colocalizes with
GO:0019901	protein kinase binding	IBA	molecular function
GO:0042383	sarcolemma	IBA	colocalizes with
GO:0043410	positive regulation of MAPK cascade	IBA	biological process
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0070836	caveola assembly	IBA	biological process
GO:0001937	negative regulation of endothelial cell proliferation	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0008286	insulin receptor signaling pathway	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0051480	regulation of cytosolic calcium ion concentration	IBA	biological process
GO:0005901	caveola	IEA	cellular component
GO:0070836	caveola assembly	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005901	caveola	IDA	cellular component
GO:0044791	positive regulation by host of viral release from host cell	IMP	biological process
GO:0044794	positive regulation by host of viral process	IMP	biological process
GO:0030133	transport vesicle	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097110	scaffold protein binding	IEA	molecular function
GO:0071711	basement membrane organization	IEA	biological process
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0030674	protein-macromolecule adaptor activity	IEA	molecular function
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0007029	endoplasmic reticulum organization	IEA	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0002095	caveolar macromolecular signaling complex	IEA	cellular component
GO:0002080	acrosomal membrane	IEA	cellular component
GO:0001938	positive regulation of endothelial cell proliferation	IEA	biological process
GO:0048741	skeletal muscle fiber development	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0005901	caveola	IEA	cellular component
GO:0001937	negative regulation of endothelial cell proliferation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005901	caveola	IDA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0006906	vesicle fusion	IDA	biological process
GO:0016050	vesicle organization	IDA	biological process
GO:0048278	vesicle docking	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IDA	cellular component
GO:0070836	caveola assembly	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0005925	focal adhesion	IDA	colocalizes with
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0007088	regulation of mitotic nuclear division	IEP	biological process
GO:0060161	positive regulation of dopamine receptor signaling pathway	IMP	biological process
GO:0070836	caveola assembly	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0007005	mitochondrion organization	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048741	skeletal muscle fiber development	ISS	biological process
GO:0001937	negative regulation of endothelial cell proliferation	ISS	biological process
GO:0007029	endoplasmic reticulum organization	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04510	Focal adhesion
hsa05205	Proteoglycans in cancer
hsa05418	Fluid shear stress and atherosclerosis
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
tongue squamous cell carcinoma	PMID:20558341
primary open angle glaucoma	PMID:24572674
low tension glaucoma	PMID:23743525
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881