2. Gene
  3. CACNA1G - calcium voltage-gated channel subunit alpha1 G Gene

CACNA1G - calcium voltage-gated channel subunit alpha1 G 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 G

种属: Homo sapiens

同用名: NBR13; SCA42; Cav3.1; SCA42ND; Ca(V)T.1

基因 ID: 8913 | 基因类型: protein coding

关于 CACNA1G

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:50,560,715-50,627,474 (from NCBI)

Biased expression in brain (RPKM 2.7), endometrium (RPKM 1.7) and 7 other tissues.

功能概要

电压敏感钙通道介导钙离子进入可兴奋细胞，并且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。该基因编码一个 T 型、低电压激活的钙通道。由于快速失活，T 型通道产生的电流既是瞬态电流，又是由于小电导而产生的微小电流。 T 型通道被认为与起搏器活动、低阈值钙尖峰、神经元振荡和共振以及反弹爆发放电有关。许多编码不同亚型的选择性剪接转录物变体已被描述用于该基因。[RefSeq 提供，2011 年 9 月]

Voltage-sensitive calcium 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 a T-type, low-voltage activated Calcium Channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]

CACNA1G 基因产物(28)

mRNA Protein Name
NM_001256324.2 NP_001243253.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 16
NM_001256325.2 NP_001243254.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 17
NM_001256326.2 NP_001243255.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 18
NM_001256327.2 NP_001243256.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 19
NM_001256328.2 NP_001243257.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 20
NM_001256329.2 NP_001243258.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 21
NM_001256330.2 NP_001243259.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 22
NM_001256331.2 NP_001243260.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 23
NM_001256332.2 NP_001243261.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 24
NM_001256333.2 NP_001243262.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 25
NM_001256334.2 NP_001243263.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 26
NM_001256359.2 NP_001243288.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 27
NM_001256360.2 NP_001243289.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 28
NM_001256361.2 NP_001243290.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 29
NM_018896.5 NP_061496.2 voltage-dependent T-type calcium channel subunit alpha-1G isoform 1
NM_198376.3 NP_938190.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 14
NM_198377.3 NP_938191.2 voltage-dependent T-type calcium channel subunit alpha-1G isoform 2
NM_198378.3 NP_938192.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 9
NM_198379.3 NP_938193.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 7
NM_198380.3 NP_938194.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 5
NM_198382.3 NP_938196.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 11
NM_198383.3 NP_938197.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 6
NM_198384.3 NP_938198.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 8
NM_198385.3 NP_938199.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 4
NM_198386.3 NP_938200.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 10
NM_198387.3 NP_938201.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 12
NM_198388.3 NP_938202.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 13
NM_198396.3 NP_938406.1 voltage-dependent T-type calcium channel subunit alpha-1G isoform 3
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
enables low voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
21084288 GOA
enables scaffold protein binding IPI
IPI: 通过物理相互作用推断
21084288 GOA
enables voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
10648811 GOA
enables voltage-gated calcium channel activity IMP
IMP: 通过突变表型推断
29878067 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
21084288 GOA
involved in calcium ion transmembrane transport IDA
IDA: 通过直接分析推断
26456284 GOA
involved in regulation of membrane potential IDA
IDA: 通过直接分析推断
21084288 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
26715324 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
26715324 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

CACNA1G 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (120 - 394)

Ion_trans

Ion_trans: Ion transport protein (778 - 962)

Ion_trans

Ion_trans: Ion transport protein (1314 - 1536)

Ion_trans

Ion_trans: Ion transport protein (1645 - 1849)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2377 a.a.
蛋白主名 其他名称

voltage-dependent T-type calcium channel subunit alpha-1G

calcium channel, voltage-dependent, T type, alpha 1G subunit

关联疾病

疾病名称 别名
Spinocerebellar Ataxia 42

Spinocerebellar Ataxia Type 42

SCA42
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits

SCA42ND
Cerebellar Ataxia Type 42

Sca42
Spastic Ataxia

Spax

Ataxia, Spastic
Childhood Electroclinical Syndrome
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon
Myasthenic Syndrome, Congenital, 8

Congenital Myasthenic Syndrome 8

CMS8

Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects

Cmsppd

Myasthenic Syndrome, Congenital, 8, With Pre- And Postsynaptic Defects

Congenital Myasthenic Syndrome Due To Agrin Deficiency

Myasthenic Syndrome, Congenital, Due To Agrin Deficiency

Congenital Myasthenic Syndrome 8 With Pre- And Postsynaptic Defects

Myasthenic Syndrome, Congenital, Type 8, With Pre- And Postsynaptic Defects
Juvenile Absence Epilepsy

Epilepsy Juvenile Absence

Jae

Childhood Absence Epilepsy

Absence 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
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
Spinocerebellar Ataxia, Autosomal Recessive 17

Autosomal Recessive Spinocerebellar Ataxia 17

SCAR17

Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 17

Spinocerebellar Ataxia, Autosomal Recessive, 17

Ataxia, Spinocerebellar, Autosomal Recessive, Type 17
Timothy Syndrome

Long Qt Syndrome With Syndactyly

TS

Lqt8

Long Qt Syndrome 8

Long Qt Syndrome Type 8

Long Qt Syndrome-Syndactyly Syndrome
Adolescence-Adult Electroclinical Syndrome
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]
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
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
Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
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-RS01797 CACNA1G 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 CACNA1G RGD RGD:68942
Macaca mulatta CACNA1G VGNC VGNC:70504
Bos taurus CACNA1G VGNC VGNC:26677
Felis catus CACNA1G VGNC VGNC:60298
Mus musculus CACNA1G MGD MGI:1201678
Canis familiaris CACNA1G VGNC VGNC:38637
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