2. Gene
  3. CAV2 - caveolin 2 Gene

CAV2 - caveolin 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：小窝蛋白 2

种属: Homo sapiens

同用名: CAV

基因 ID: 858 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是小窝内表面的主要成分，质膜的小内陷，并参与基本的细胞功能，包括信号转导、脂质代谢、细胞生长控制和细胞凋亡。这种蛋白质可能起到肿瘤抑制因子的作用。该基因和相关家族成员 (CAV1) 在 7 号染色体上彼此相邻，表达共定位蛋白，形成稳定的异源寡聚复合物。已经为该基因鉴定了编码不同亚型的可变剪接转录物变体。还描述了使用替代的帧内翻译起始密码子产生的其他亚型，并显示在细胞中具有优先定位 (PMID：11238462) 。[RefSeq 提供，2011 年 5 月]

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 基因产物(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

CAV2 蛋白结构

Caveolin

Caveolin: Caveolin (16 - 161)

  • 0
  • 100
  • 162 a.a.
蛋白主名 其他名称

caveolin-2

caveolae protein, 20-kD

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (13)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-P1080A ω-Agatoxin IVA TFA Inhibitor 96.35% 否
HY-119373 Cav 2.2 blocker 1 Inhibitor 99.38% 否
HY-P1074 SNX-482 Inhibitor ≥99.0% 否
HY-115597 BTT-266 Antagonist / 否
HY-120751 TROX-1 Inhibitor / 否
HY-147639 Cav 2.2/3.2 blocker 1 Inhibitor / 否
HY-148866 Cavα2δ1&NET-IN-3 Inhibitor / 否
HY-P1080 ω-Agatoxin IVA Inhibitor / 否
HY-P5804 ω-Conotoxin CVIF Inhibitor / 否
HY-P5820 ω-Conotoxin Bu8 Inhibitor / 否
HY-P5874 Myr-TAT-CBD3 Inhibitor / 否
HY-P5902 ω-conotoxin MoVIA Inhibitor / 否
HY-RS01987 CAV2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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