CACNA1G - calcium voltage-gated channel subunit alpha1 G Gene

Also Known as NBR13; SCA42; Cav3.1; SCA42ND; Ca(V)T.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8913

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables low voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	21084288	GOA
enables scaffold protein binding	IPI IPI: Inferred from physical interaction	21084288	GOA
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	10648811	GOA
enables voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	29878067	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in calcium ion import	IDA IDA: Inferred from direct assay	21084288	GOA
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	26456284	GOA
involved in regulation of membrane potential	IDA IDA: Inferred from direct assay	21084288	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	26715324	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	26715324	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CACNA1G Protein Structure

Ion_trans

0
400
800
1200
1600
2000
2377 a.a.

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

CACNA1G Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P811010	Cav3.1 Antibody	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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]

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS01797	CACNA1G Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	CACNA1G	NCBI