2. Gene
  3. CACNA2D1 - calcium voltage-gated channel auxiliary subunit alpha2delta 1 Gene

CACNA2D1 - calcium voltage-gated channel auxiliary subunit alpha2delta 1 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 alpha2delta 1

种属: Homo sapiens

同用名: CACNA2; CCHL2A; DEE110; CACNL2A; LINC01112; lncRNA-N3

基因 ID: 781 | 基因类型: protein coding

关于 CACNA2D1

Cytogenetic location: 7q21.11 Genomic coordinates (GRCh38): 7:81,946,444-82,443,956 (from NCBI)

This gene has 13 transcripts (splice variants), 284 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 8.0), heart (RPKM 5.6) and 21 other tissues.

功能概要

由该基因编码的前原蛋白被切割成多条链，这些链包含电压依赖性钙通道复合物的 alpha-2 和 delta 亚基。钙通道在膜极化时介导钙离子流入细胞。该基因的突变可导致心脏缺陷，包括 Brugada 综合征和短 QT 综合征。交替剪接导致多个转录变体，其中一些可能缺少 delta 亚基部分。[RefSeq 提供，2014 年 11 月]

The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent Calcium Channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]

CACNA2D1 基因产物(3)

mRNA Protein Name
NM_000722.4 NP_000713.2 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 1 preproprotein
NM_001302890.2 NP_001289819.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 2 precursor
NM_001366867.1 NP_001353796.1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein
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 voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
11160515 GOA
enables voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
1309651 GOA
enables voltage-gated calcium channel activity IGI
IGI: 通过遗传相互作用推断
21883149 GOA
contributes to voltage-gated calcium channel activity involved in bundle of His cell action potential IMP
IMP: 通过突变表型推断
21383000 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion transport IDA
IDA: 通过直接分析推断
1309651 GOA
involved in cardiac muscle cell action potential involved in contraction IMP
IMP: 通过突变表型推断
25527503 GOA
involved in cellular response to amyloid-beta IGI
IGI: 通过遗传相互作用推断
21883149 GOA
involved in membrane depolarization during bundle of His cell action potential IMP
IMP: 通过突变表型推断
21383000 GOA
involved in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IGI
IGI: 通过遗传相互作用推断
21883149 GOA
involved in 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
25527503 GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization IMP
IMP: 通过突变表型推断
25527503 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
located in plasma membrane IDA
IDA: 通过直接分析推断
35293990 GOA
part of voltage-gated calcium channel complex IDA
IDA: 通过直接分析推断
11160515 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

CACNA2D1 蛋白结构

VWA_N

VWA_N: VWA N-terminal (104 - 223)

VWA

VWA: von Willebrand factor type A domain (253 - 414)

dCache_1

dCache_1: Cache domain (446 - 533)

VGCC_alpha2

VGCC_alpha2: Neuronal voltage-dependent calcium channel alpha 2acd (562 - 646)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1103 a.a.
蛋白主名 其他名称

voltage-dependent calcium channel subunit alpha-2/delta-1

alpha2delta-1

重组 CACNA2D1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72109 CACNA2D1 Protein, Human (His-SUMO) P54289 (Q528-N668) ≥95%

关联疾病

疾病名称 别名
Familial Short Qt Syndrome

Sqts

Genetic Short Qt Syndrome
Short Qt Syndrome

Sqts

Familial Short Qt 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]
Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever
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
Brugada Syndrome 4

BRGDA4

Brugada Syndrome, Type 4
Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma
Timothy Syndrome

Long Qt Syndrome With Syndactyly

TS

Lqt8

Long Qt Syndrome 8

Long Qt Syndrome Type 8

Long Qt Syndrome-Syndactyly Syndrome
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
Long Qt Syndrome 2

LQT2

Long Qt Syndrome, Acquired, Reduced Susceptibility To

Long Qt Syndrome 1/2

Long Qt Syndrome 2/3

Long Qt Syndrome 2/5

Long Qt Syndrome 2, Acquired, Susceptibility To

Long Qt Syndrome, Acquired, Reduced

Long Qt Syndrome Type 2

Long Qt Syndrome 2/9

Lqt1/2

Lqt2/3

Lqt2/5

Lqt2/9

Susceptibility To Acquired Long Qt Syndrome 2

Long Qt Syndrome-2

Qt Syndrome, Long, Type 2

Long Qt Syndrome 1-2

Long Qt Syndrome 2-3

Long Qt Syndrome 2-5

Long Qt Syndrome 9
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
Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease
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
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
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01801 CACNA2D1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS19290 Cacna2d1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25780 Cacna2d1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CACNA2D1 VGNC VGNC:26679
Macaca mulatta CACNA2D1 VGNC VGNC:80803
Rattus norvegicus CACNA2D1 RGD RGD:2247
Canis familiaris CACNA2D1 VGNC VGNC:38641
Mus musculus CACNA2D1 MGD MGI:88295
Felis catus CACNA2D1 VGNC VGNC:60302
Others CACNA2D1 NCBI
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