CAV2 - caveolin 2 Gene

Homo sapiens

Also known as CAV

Gene ID: 858 | Gene type: protein coding

About CAV2

Cytogenetic location: 7q31.2 Genomic coordinates (GRCh38): 7:116,499,738-116,508,541 (from NCBI)

This gene has 15 transcripts (splice variants), 194 orthologues and 2 paralogues. Broad expression in fat (RPKM 133.6), lung (RPKM 106.3) and 17 other tissues.

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]

CAV2 Products(4)

mRNA	Protein	Name
NM_001206747.2	NP_001193676.1	caveolin-2 isoform b
NM_001206748.2	NP_001193677.1	caveolin-2 isoform d
NM_001233.5	NP_001224.1	caveolin-2 isoform a
NM_198212.3	NP_937855.1	caveolin-2 isoform c

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables D1 dopamine receptor binding	IPI IPI: Inferred from physical interaction	15569306	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10212252	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	8552590	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in caveola assembly	IDA IDA: Inferred from direct assay	12743374	GOA
involved in caveola assembly	IMP IMP: Inferred from mutant phenotype	12633858	GOA
involved in insulin receptor signaling pathway	IDA IDA: Inferred from direct assay	20455999	GOA
involved in positive regulation by host of viral process	IMP IMP: Inferred from mutant phenotype	25556234	GOA
involved in positive regulation of GTPase activity	IDA IDA: Inferred from direct assay	8552590	GOA
involved in positive regulation of MAPK cascade	IDA IDA: Inferred from direct assay	20455999	GOA
involved in positive regulation of dopamine receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	15569306	GOA
involved in receptor-mediated endocytosis of virus by host cell	IGI IGI: Inferred from genetic interaction	21047970	GOA
involved in regulation of mitotic nuclear division	IEP IEP: Inferred from expression pattern	18081315	GOA
involved in vesicle docking	IDA IDA: Inferred from direct assay	12743374	GOA
involved in vesicle fusion	IDA IDA: Inferred from direct assay	12743374	GOA
involved in vesicle organization	IDA IDA: Inferred from direct assay	12743374	GOA
involved in viral release from host cell	IMP IMP: Inferred from mutant phenotype	25556234	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in caveola	IDA IDA: Inferred from direct assay	8552590	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	22792322	GOA
colocalizes with focal adhesion	IDA IDA: Inferred from direct assay	12091389	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	11294831	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	18081315	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	8552590	GOA
located in plasma membrane raft	IDA IDA: Inferred from direct assay	15569306	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	24013648	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CAV2 Protein Structure

Caveolin

0
100
162 a.a.

Protein Preferred Names

Protein Names

caveolin-2

caveolae protein, 20-kD

Related Diseases

Diseases

Alias

Lung Pleomorphic Carcinoma

Episodic Ataxia, Type 2

Episodic Ataxia Type 2	EA2
Apca	Capa
Cerebellopathy, Hereditary Paroxysmal	Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive	Episodic Ataxia With Nystagmus
Ataxia, Episodic, With Nystagmus	Episodic Ataxia, Nystagmus-Associated
Ataxia, Familial Paroxysmal	Acetazolamide-Responsive Episodic Ataxia Syndrome
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia	Ataxia, Familial, Paroxysmal
Nystagmus-Associated Episodic Ataxia	Familial Paroxysmal Ataxia
Episodic Ataxia 2	Ea-2
Episodic Ataxia Nystagmus-Associated	Hereditary Paroxysmal Cerebellopathy
Ataxia, Episodic, Type 2

Brill-Zinsser Disease

Recrudescent Typhus	Brill Disease
Brill Zinsser Disease	Brill'S Disease
Latent Typhus	Sporadic Typhus
Typhus, Epidemic Louse-Borne	Recrudescent Typhus Due To Rickettsia Prowazekii
Recrudescent Typhus Fever	Recrudescent Brill-Zinsser Typhus Due To Rickettsia Prowazekii
Recrudescent Brill Disease	Recrudescent Typhus Fever Due To Rickettsia Prowazekii

Rippling Muscle Disease 2

Rippling Muscle Disease	Rmd
Lgmd1c	RMD2
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c	Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly	Lgmd1c, Formerly
Limb-Girdle Muscular Dystrophy Type 1c	Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency
Muscular Dystrophy, Limb-Girdle, Type Ic	Rippling Muscle Syndrome
Limb-Girdle Muscular Dystrophy 1c	Dystrophy, Muscular, Limb-Girdle, Type 1c
Disease, Muscle, Rippling, Type 2	Rippling Muscle Disease 1

Queensland Tick Typhus

Australian Tick Typhus	North Queensland Tick Typhus
Rickettsia Australis Spotted Fever

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

Glaucoma, Normal Tension

Low Tension Glaucoma	Glaucoma, Normal Tension, Susceptibility To
Normal Tension Glaucoma	Ntg
Glaucoma, Normal Pressure	NPG
Glaucoma, Normal Pressure, Susceptibility To	Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Lipodystrophy, Congenital Generalized, Type 3

Congenital Generalized Lipodystrophy Type 3	CGL3
Bscl3	Berardinelli-Seip Congenital Lipodystrophy Type 3
Berardinelli-Seip Congenital Lipodystrophy, Type 3	Lipodystrophy, Berardinelli-Seip Congenital, Type 3
Type 3 Berardinelli-Seip Congenital Lipodystrophy	Congenital Generalized Lipodystrophy 3

Spinocerebellar Ataxia 6

Spinocerebellar Ataxia Type 6	SCA6
Type 6 Spinocerebellar Ataxia	Spinocerebellar Ataxia-6
Ataxia, Spinocerebellar, Type 6

Open-Angle Glaucoma

Glaucoma Simplex	Pigmentary Glaucoma
Wide-Angle Glaucoma	Glaucoma, Open-Angle
Open Angle Glaucoma	Glaucoma Open-Angle
Chronic Simple Glaucoma	Coag - [Chronic Open-Angle Glaucoma]
Csg - [Chronic Simple Glaucoma]	Poag - [Primary Open-Angle Glaucoma]
Oag - [Open-Angle Glaucoma]	Chronic Glaucoma
Chronic Open Angle Glaucoma	Simple Glaucoma
Chronic Noncongestive Glaucoma	Ltg - [Low Tension Glaucoma]
Noncongestive Glaucoma	Nonobstructive Glaucoma
Normal Pressure Glaucoma	Primary Low Tension Glaucoma
Low-Tension Glaucoma	Residual Stage Low Tension Glaucoma
Open Cleft Glaucoma

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk	Idiopathic Hyperckemia
Isolated Hyperckemia	Elevated Serum Creatine Phosphokinase
H-Ck	Idiopathic Persistent Elevation Of Serum Creatine Kinase

Episodic Ataxia

Isaacs Syndrome	Neuromyotonia
Isaacs' Syndrome	Acquired Neuromyotonia
Continuous Muscle Fiber Activity Syndrome	Quantal Squander Syndrome
Isaacs-Mertens Syndrome	Ea Syndrome
Episodic Ataxia Syndrome	Isaac Syndrome
Isaac'S-Merten'S Syndrome	Isaac-Mertens Syndrome
Peripheral Nerve Hyperexcitability	Ea
Peripheral Nerve Hyperexcitability Syndrome	Ataxia, Episodic
Isaacs Neuromyotonia	Continuous Muscle Fibre Activity

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Migraine With Or Without Aura 1

Migraine	Migraine With Or Without Aura, Susceptibility To, 1
Migraine Disorder	Migraine Variant
Migraines	Migraine Disorders
Mgr1	Mgau
Ma	Migraine With Or Without Aura
Classic Migraine	Common Migraine
Disorder, Migraine	Headache Migraine
Headache Migrainous	Migraine Headache
Migraine Syndrome	Headache Including Migraine
Migraine, Susceptibility To

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P1080A	ω-Agatoxin IVA TFA	Inhibitor	98.13%	Unkown
HY-P1074	SNX-482	Inhibitor	≥99.0%	Unkown
HY-119373	Cav 2.2 blocker 1	Inhibitor	98.78%	Unkown
HY-132268	Cav 2.2 blocker 2	Inhibitor	98.45%	Unkown
HY-115597	BTT-266	Antagonist	/	Unkown
HY-120751	TROX-1	Inhibitor	/	Unkown
HY-147639	Cav 2.2/3.2 blocker 1	Inhibitor	/	Unkown
HY-148866	Cavα2δ1&NET-IN-3	Inhibitor	/	Unkown
HY-164803	CBD3063	Modulator	/	Unkown
HY-P1080	ω-Agatoxin IVA	Inhibitor	/	Unkown
HY-P5874	Myr-TAT-CBD3	Inhibitor	/	Unkown
HY-RS01987	CAV2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CAV2	RGD	RGD:620348
Canis familiaris	CAV2	VGNC	VGNC:38752
Macaca mulatta	CAV2	VGNC	VGNC:80806
Bos taurus	CAV2	VGNC	VGNC:26800
Mus musculus	CAV2	MGD	MGI:107571
Felis catus	CAV2	VGNC	VGNC:60399

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