2. Gene
  3. CACNB2 - calcium voltage-gated channel auxiliary subunit beta 2 Gene

CACNB2 - calcium voltage-gated channel auxiliary subunit beta 2 Gene

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

中文名称：钙电压门控通道辅助亚基β2

种属: Homo sapiens

同用名: CAB2; MYSB; CAVB2; CACNLB2

基因 ID: 783 | 基因类型: protein coding

关于 CACNB2

Cytogenetic location: 10p12.33-p12.31 Genomic coordinates (GRCh38): 10:18,140,424-18,543,557 (from NCBI)

This gene has 26 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 4.0), adrenal (RPKM 2.4) and 25 other tissues.

功能概要

该基因编码电压依赖性钙通道蛋白的一个亚基，该蛋白是电压门控钙通道超家族的成员。该基因产物最初被确定为 Lambert-Eaton 肌无力综合征 (一种自身免疫性疾病) 的抗原靶标。该基因的突变与 Brugada 综合征有关。已经描述了编码不同亚型的选择性剪接变体。[RefSeq 提供，2013 年 2 月]

This gene encodes a subunit of a voltage-dependent Calcium Channel protein that is a member of the voltage-gated Calcium Channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]

CACNB2 基因产物(11)

mRNA Protein Name
NM_000724.4 NP_000715.2 voltage-dependent L-type calcium channel subunit beta-2 isoform 1
NM_001167945.2 NP_001161417.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 9
NM_001330060.2 NP_001316989.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 10
NM_001410882.1 NP_001397811.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 11
NM_201570.3 NP_963864.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 7
NM_201571.4 NP_963865.2 voltage-dependent L-type calcium channel subunit beta-2 isoform 6
NM_201572.4 NP_963866.2 voltage-dependent L-type calcium channel subunit beta-2 isoform 8
NM_201590.3 NP_963884.2 voltage-dependent L-type calcium channel subunit beta-2 isoform 3
NM_201593.3 NP_963887.2 voltage-dependent L-type calcium channel subunit beta-2 isoform 5
NM_201596.3 NP_963890.2 voltage-dependent L-type calcium channel subunit beta-2 isoform 2
NM_201597.3 NP_963891.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 4
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to high voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
1309651 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17525370 GOA
enables voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
1309651 GOA
contributes to voltage-gated calcium channel activity involved in AV node cell action potential IMP
IMP: 通过突变表型推断
17224476 GOA
contributes to voltage-gated calcium channel activity involved in cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
17224476 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion import IDA
IDA: 通过直接分析推断
1309651 GOA
involved in membrane depolarization during AV node cell action potential IMP
IMP: 通过突变表型推断
17224476 GOA
involved in membrane depolarization during atrial cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
17224476 GOA
involved in positive regulation of calcium ion transport IDA
IDA: 通过直接分析推断
1309651 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: 通过突变表型推断
17224476 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of L-type voltage-gated calcium channel complex IDA
IDA: 通过直接分析推断
1309651 GOA
part of voltage-gated calcium channel complex IDA
IDA: 通过直接分析推断
17224476 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CACNB2 蛋白结构

VGCC_beta4Aa_N

VGCC_beta4Aa_N: Voltage gated calcium channel subunit beta domain 4Aa N terminal (72 - 113)

Guanylate_kin

Guanylate_kin: Guanylate kinase (280 - 460)

  • 0
  • 200
  • 400
  • 600
  • 660 a.a.
蛋白主名 其他名称

voltage-dependent L-type calcium channel subunit beta-2

calcium channel voltage-dependent subunit beta 2

CACNB2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CACNB2 Q08289 CTBP2 Homo sapiens P56545-3
Y2H Prey Pooling
32296183
种属内
CACNB2 Q08289 CTBP2 Homo sapiens P56545-3
Y2H Array
32296183
种属内
CACNB2 Q08289 TMEM174 Homo sapiens Q8WUU8
Validated Y2H
32296183
种属内
CACNB2 Q08289 TMEM174 Homo sapiens Q8WUU8
Y2H Array
32296183
种属内
CACNB2 Q08289 TMEM174 Homo sapiens Q8WUU8
Y2H Prey Pooling
32296183
种属内
CACNB2 Q08289 PRMT5 Homo sapiens O14744
Y2H Prey Pooling
32296183
种属内
CACNB2 Q08289 PRMT5 Homo sapiens O14744
Y2H Array
32296183
种属内
CACNB2 Q08289 HEXIM2 Homo sapiens Q96MH2
Y2H Array
32296183
种属内
CACNB2 Q08289 HEXIM2 Homo sapiens Q96MH2
Validated Y2H
32296183
种属内
CACNB2 Q08289 HEXIM2 Homo sapiens Q96MH2
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Brugada Syndrome 4

BRGDA4

Brugada Syndrome, Type 4
Lambert-Eaton Myasthenic Syndrome

Lambert-Eaton Syndrome

Eaton-Lambert Syndrome

Lems

Lambert Eaton Myasthenic Syndrome

Eaton Lambert Syndrome

Lambert Eaton Syndrome

Myasthenic Syndrome Of Lambert-Eaton

Myasthenic-Myopathic Syndrome Of Lambert-Eaton

Lems - [Lambert-Eaton Myasthenic Syndrome]
Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Right Bundle Branch Block

Right Bundle Branch Block With Left Posterior Fascicular Block
Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular
Short Qt Syndrome

Sqts

Familial Short Qt Syndrome
Timothy Syndrome

Long Qt Syndrome With Syndactyly

TS

Lqt8

Long Qt Syndrome 8

Long Qt Syndrome Type 8

Long Qt Syndrome-Syndactyly Syndrome
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Arrhythmogenic Right Ventricular Dysplasia 10

ARVD10

Arrhythmogenic Right Ventricular Cardiomyopathy 10

Arvc10

Familial Arrhythmogenic Right Ventricular Dysplasia 10

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10
Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2
Distal Muscular Dystrophy With Anterior Tibial Onset

Dmat
Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure
Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats
Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1
Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome
Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy
Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity
Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01806 CACNB2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CACNB2 VGNC VGNC:26684
Canis familiaris CACNB2 VGNC VGNC:38645
Felis catus CACNB2 VGNC VGNC:60307
Macaca mulatta CACNB2 VGNC VGNC:70510
Mus musculus CACNB2 MGD MGI:894644
Rattus norvegicus CACNB2 RGD RGD:67385
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z