CAV2 - caveolin 2 Gene

Also Known as CAV

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 858

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
Molecular Function GO Annotation Evidence Referencias 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 Referencias 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 Referencias 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

Caveolin: Caveolin (16 - 161)

  • 0
  • 100
  • 162 a.a.
Protein Preferred Names Protein Names

caveolin-2

  • caveolae protein, 20-kD

CAV2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
CAV2 P51636 EGFR Homo sapiens P00533 24658140
Intra
CAV2 P51636 CAV1 Homo sapiens Q03135 31980649
Cross: Cross-species interaction Intra: Intraspecies interaction

CAV2 Antibodies

Referencia número Nombre del producto Aplicación Reactivity
HY-P82642 Caveolin 2 Antibody (YA2387) WB, IHC-P, ICC/IF, FC Human
HY-P82642A Caveolin 2 Antibody (YA2387)(PBS only) WB, IHC-P, ICC/IF, FC Human

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

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
Others CAV2 NCBI