2. Gene
  3. CACNA1E - calcium voltage-gated channel subunit alpha1 E Gene

CACNA1E - calcium voltage-gated channel subunit alpha1 E Gene

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

中文名称：钙电压门控通道亚基 alpha1 E

种属: Homo sapiens

同用名: BII; CACH6; DEE69; gm139; Cav2.3; EIEE69; CACNL1A6

基因 ID: 777 | 基因类型: protein coding

关于 CACNA1E

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:181,317,699-181,808,084 (from NCBI)

This gene has 11 transcripts (splice variants), 295 orthologues, 26 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 3.3), adrenal (RPKM 0.4) and 2 other tissues.

功能概要

电压依赖性钙通道是由 alpha-1、alpha-2、beta 和 delta 亚基以 1:1:1:1 的比例组成的多亚基复合物。这些通道介导钙离子进入可兴奋细胞，还参与多种钙依赖性过程，包括肌肉收缩、激素或神经递质释放、基因表达、细胞运动、细胞分裂和细胞死亡。该基因编码 R 型钙通道的 alpha-1E 亚基，属于“高压激活”组，可能参与调节对信息处理很重要的神经元放电模式。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2011 年 4 月]

Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]

CACNA1E 基因产物(3)

mRNA Protein Name
NM_000721.4 NP_000712.2 voltage-dependent R-type calcium channel subunit alpha-1E isoform 3
NM_001205293.3 NP_001192222.1 voltage-dependent R-type calcium channel subunit alpha-1E isoform 1
NM_001205294.2 NP_001192223.1 voltage-dependent R-type calcium channel subunit alpha-1E isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
7536609 GOA
enables voltage-gated calcium channel activity IMP
IMP: 通过突变表型推断
30343943 GOA
enables voltage-gated monoatomic cation channel activity IDA
IDA: 通过直接分析推断
30343943 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

CACNA1E 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (130 - 349)

Ion_trans

Ion_trans: Ion transport protein (510 - 701)

Ion_trans

Ion_trans: Ion transport protein (1188 - 1422)

Ion_trans

Ion_trans: Ion transport protein (1512 - 1722)

Ca_chan_IQ

Ca_chan_IQ: Voltage gated calcium channel IQ domain (1861 - 1894)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2313 a.a.
蛋白主名 其他名称

voltage-dependent R-type calcium channel subunit alpha-1E

brain calcium channel II

CACNA1E 抗体

目录号 产品名 应用 反应物种
HY-P86832 CaV2.3/CACNA1E Antibody (YA6525) IHC-F, IHC-P, WB Mouse, Rat

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 69

DEE69

Epileptic Encephalopathy, Early Infantile, 69

Eiee69

Developmental And Epileptic Encephalopathy, 69

Early Infantile Epileptic Encephalopathy 69
Van Der Woude Syndrome 1

Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip

VWS1

Vdws

Lip-Pit Syndrome

Lps

Pit

Lip Pit

Van Der Woude Syndrome
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
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
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
Fleck Retina, Familial Benign

FRFB

Familial Benign Flecked Retina

Familial Benign Fleck Retina
Spinocerebellar Ataxia 6

Spinocerebellar Ataxia Type 6

SCA6

Type 6 Spinocerebellar Ataxia

Spinocerebellar Ataxia-6

Ataxia, Spinocerebellar, Type 6
Familial Hemiplegic Migraine

Hemiplegic Migraine, Familial

Hemiplegic-Ophthalmoplegic Migraine

Fhm

Hemiplegic Migraine Familial
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
Migraine With Aura

Classic Migraine

Migraine With Typical Aura

Migraine Accompagnée

Complicated Migraine

Classical Migraine

Acute Migraine With Aura
Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy
Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
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
Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital
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-RS01795 CACNA1E Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus CACNA1E VGNC VGNC:60296
Bos taurus CACNA1E VGNC VGNC:26675
Rattus norvegicus CACNA1E RGD RGD:2246
Macaca mulatta CACNA1E VGNC VGNC:70502
Mus musculus CACNA1E MGD MGI:106217
Canis familiaris CACNA1E VGNC VGNC:38635
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