2. Gene
  3. CACNA2D2 - calcium voltage-gated channel auxiliary subunit alpha2delta 2 Gene

CACNA2D2 - calcium voltage-gated channel auxiliary subunit alpha2delta 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 alpha2delta 2

种属: Homo sapiens

同用名: CASVDD; CACNA2D

基因 ID: 9254 | 基因类型: protein coding

关于 CACNA2D2

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:50,362,613-50,504,244 (from NCBI)

This gene has 8 transcripts (splice variants), 269 orthologues, 4 paralogues and is associated with 1 phenotype. Biased expression in lung (RPKM 29.8), testis (RPKM 5.0) and 4 other tissues.

功能概要

钙通道在膜极化时介导钙离子进入细胞。该基因编码电压依赖性钙通道复合物的 alpha-2/delta 亚基。该复合物由主要通道形成亚基 alpha-1 和辅助亚基 alpha-2/delta、beta 和 gamma 组成。辅助亚基在复合物的组装和膜定位中发挥作用，并调节钙电流和通道激活/失活动力学。由该基因编码的亚基经过翻译后切割，产生细胞外 alpha2 肽和膜锚定 delta 多肽。该亚基是抗癫痫药物加巴喷丁的受体。该基因的突变与早期婴儿癫痫性脑病有关。该基因中的单核苷酸多态性与对阿片类药物的敏感性增加相关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2014 年 3 月]

Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent Calcium Channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

CACNA2D2 基因产物(5)

mRNA Protein Name
NM_001005505.3 NP_001005505.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform a precursor
NM_001174051.3 NP_001167522.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform c precursor
NM_001291101.1 NP_001278030.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform d
NM_001410768.1 NP_001397697.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform e precursor
NM_006030.4 NP_006021.2 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform b precursor

CACNA2D2 蛋白结构

VWA_N

VWA_N: VWA N-terminal (141 - 265)

VWA

VWA: von Willebrand factor type A domain (291 - 454)

dCache_1

dCache_1: Cache domain (485 - 573)

VGCC_alpha2

VGCC_alpha2: Neuronal voltage-dependent calcium channel alpha 2acd (580 - 672)

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  • 1150 a.a.
蛋白主名 其他名称

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

alpha 2 delta calcium channel subunit

关联疾病

疾病名称 别名
Cerebellar Atrophy With Seizures And Variable Developmental Delay

CASVDD
Ohtahara Syndrome
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome
Brugada Syndrome 4

BRGDA4

Brugada Syndrome, Type 4
Lujo Hemorrhagic Fever

Zambian Hemorrhagic Fever
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

BCKDKD

Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency

Bckdk Deficiency

Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency
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
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
Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy
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]
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-RS01802 CACNA2D2 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 CACNA2D2 RGD RGD:631360
Mus musculus CACNA2D2 MGD MGI:1929813
Felis catus CACNA2D2 VGNC VGNC:60303
Canis familiaris CACNA2D2 VGNC VGNC:38642
Bos taurus CACNA2D2 VGNC VGNC:26680
Macaca mulatta CACNA2D2 VGNC VGNC:70508
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