CACNB4 - calcium voltage-gated channel auxiliary subunit beta 4 Gene

Also Known as EA5; EJM; CAB4; EIG9; EJM4; EJM6; CACNLB4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 785

About CACNB4

Cytogenetic location: 2q23.3 Genomic coordinates (GRCh38): 2:151,832,771-152,099,167 (from NCBI)

This gene has 74 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 5.9), skin (RPKM 2.0) and 8 other tissues.

Summary

This gene encodes a member of the beta subunit family of voltage-dependent Calcium Channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in Calcium Channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IgE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]

CACNB4 Products (11)

mRNA	Protein	Name
NM_000726.5	NP_000717.2	voltage-dependent L-type calcium channel subunit beta-4 isoform b
NM_001005746.4	NP_001005746.1	voltage-dependent L-type calcium channel subunit beta-4 isoform c
NM_001005747.4	NP_001005747.1	voltage-dependent L-type calcium channel subunit beta-4 isoform a
NM_001145798.2	NP_001139270.1	voltage-dependent L-type calcium channel subunit beta-4 isoform d
NM_001320722.3	NP_001307651.1	voltage-dependent L-type calcium channel subunit beta-4 isoform e
NM_001330113.2	NP_001317042.1	voltage-dependent L-type calcium channel subunit beta-4 isoform f
NM_001330114.2	NP_001317043.1	voltage-dependent L-type calcium channel subunit beta-4 isoform g
NM_001330115.2	NP_001317044.1	voltage-dependent L-type calcium channel subunit beta-4 isoform h
NM_001330116.2	NP_001317045.1	voltage-dependent L-type calcium channel subunit beta-4 isoform i
NM_001330117.2	NP_001317046.1	voltage-dependent L-type calcium channel subunit beta-4 isoform j
NM_001330118.1	NP_001317047.1	voltage-dependent L-type calcium channel subunit beta-4 isoform e

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
contributes to high voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	11880487	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16525042	GOA
contributes to voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	16525042	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in regulation of voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	11880487	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	16525042	GOA
located in synapse	IDA IDA: Inferred from direct assay	16525042	GOA
part of voltage-gated calcium channel complex	IDA IDA: Inferred from direct assay	11880487	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

CACNB4 Protein Structure

VGCC_beta4Aa_N

Guanylate_kin

0
100
200
300
400
520 a.a.

Protein Preferred Names	Protein Names
voltage-dependent L-type calcium channel subunit beta-4	calcium channel voltage-dependent subunit beta 4

CACNB4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	CACNB4	O00305	CCDC102B	Homo sapiens	Q68D86	Y2H Prey Pooling	32296183
Intra	CACNB4	O00305	CCDC102B	Homo sapiens	Q68D86	Validated Y2H	32296183
Intra	CACNB4	O00305	CCDC102B	Homo sapiens	Q68D86	Y2H Array	32296183
Intra	CACNB4	O00305	CTBP2	Homo sapiens	P56545-3	Validated Y2H	32296183
Intra	CACNB4	O00305	CTBP2	Homo sapiens	P56545-3	Y2H Array	32296183
Intra	CACNB4	O00305	CTBP2	Homo sapiens	P56545-3	Y2H Prey Pooling	32296183
Intra	CACNB4	O00305	EFHC2	Homo sapiens	Q5JST6	Y2H Bait-Prey Pool	25910212
Intra	CACNB4	O00305	EFHC2	Homo sapiens	Q5JST6	Validated Y2H	25910212
Intra	CACNB4	O00305	EFHC2	Homo sapiens	Q5JST6	Validated Y2H	32296183
Intra	CACNB4	O00305	EFHC2	Homo sapiens	Q5JST6	Y2H Array	25910212
Intra	CACNB4	O00305	EFHC2	Homo sapiens	Q5JST6	Y2H Array	32296183
Intra	CACNB4	O00305	EFHC2	Homo sapiens	Q5JST6	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Episodic Ataxia, Type 5	Episodic Ataxia Type 5 EA5 Episodic Ataxia 5 Ea-5 Ataxia, Episodic, Type 5
Epilepsy, Idiopathic Generalized 9	Epilepsy, Idiopathic Generalized, Susceptibility To, 9 EIG9 Epilepsy, Juvenile Myoclonic 6 Idiopathic Generalized Epilepsy 9 Epilepsy, Juvenile Myoclonic, Susceptibility To, 6 Susceptibility To Idiopathic Generalized Epilepsy 9 Juvenile Myoclonic Epilepsy 6 EJM6 Susceptibility To Juvenile Myoclonic Epilepsy 6 Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9
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	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
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
Episodic Ataxia, Type 4	Episodic Ataxia Type 4 Periodic Vestibulocerebellar Ataxia Patx EA4 Ataxia, Periodic Vestibulocerebellar
Spastic Ataxia	Spax Ataxia, Spastic
Episodic Ataxia, Type 3	Episodic Ataxia Type 3 EA3 Ataxia, Episodic, With Vertigo And Tinnitus Episodic Ataxia-Vertigo-Tinnitus-Myokymia Syndrome
Episodic Ataxia, Type 7	Episodic Ataxia Type 7 EA7
Episodic Ataxia, Type 8	Episodic Ataxia Type 8 EA8 Episodic Ataxia With Slurred Speech
Adolescence-Adult Electroclinical Syndrome
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
Episodic Ataxia, Type 1	Episodic Ataxia Type 1 Episodic Ataxia/Myokymia Syndrome EA1 Episodic Ataxia With Myokymia Eam Ataxia, Episodic, With Myokymia Aem Paroxysmal Ataxia With Neuromyotonia, Hereditary Myokymia With Periodic Ataxia Episodic Ataxia 1 Aemk Ea-1 Paroxysmal Ataxia With Neuromyotonia Myokymia Isolated 1 MK1 Ataxia, Episodic, Type 1 Continuous Muscle Fiber Activity, Hereditary Isaacs Syndrome
Episodic Ataxia, Type 6	Episodic Ataxia Type 6 EA6 Episodic Ataxia 6 Ea-6 Ataxia, Episodic, Type 6
Spinocerebellar Ataxia 6	Spinocerebellar Ataxia Type 6 SCA6 Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia-6 Ataxia, Spinocerebellar, Type 6
Spinocerebellar Ataxia 27	Spinocerebellar Ataxia Type 27 SCA27 Cerebellar Ataxia Autosomal Dominant Fgf14-Related Vestibulocerebellar Disorder With Predominant Ocular Signs Cerebellar Ataxia, Autosomal Dominant, Fgf14-Related Nystagmus 4, Congenital, Autosomal Dominant, Formerly Nys4, Formerly Ataxia, Spinocerebellar, Type 27
Juvenile Absence Epilepsy	Epilepsy Juvenile Absence Jae Childhood Absence Epilepsy Absence Epilepsy
Lichtenstein-Knorr Syndrome	Scar19 LIKNS Autosomal Recessive Spinocerebellar Ataxia 19 Spinocerebellar Ataxia, Autosomal Recessive 19 Progressive Autosomal Recessive Ataxia-Deafness Syndrome Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 19
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
Familial Hemiplegic Migraine	Hemiplegic Migraine, Familial Hemiplegic-Ophthalmoplegic Migraine Fhm Hemiplegic Migraine Familial
Childhood Electroclinical Syndrome
Episodic Kinesigenic Dyskinesia 1	Paroxysmal Kinesigenic Choreoathetosis Paroxysmal Kinesigenic Dyskinesia Dystonia 10 Familial Paroxysmal Kinesigenic Dyskinesia Episodic Kinesigenic Dyskinesia EKD1 Pkc Pkd Dyt10 Familial Pkd Paroxysmal Kinesigenic Choreathetosis Familial Paroxysmal Dystonia Dystonia, Familial Paroxysmal Dyt-Prrt2 Dystonia, Type 10
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Migraine With Aura	Classic Migraine Migraine With Typical Aura Migraine Accompagnée Complicated Migraine Classical Migraine Acute Migraine With Aura
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
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
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

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 (2)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-149662	TMDJ-035	Inhibitor	99.92%	Unkown
HY-RS01808	CACNB4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CACNB4	VGNC	VGNC:80152
Rattus norvegicus	CACNB4	RGD	RGD:68385
Canis familiaris	CACNB4	VGNC	VGNC:54803
Bos taurus	CACNB4	VGNC	VGNC:55329
Mus musculus	CACNB4	MGD	MGI:103301
Macaca mulatta	CACNB4	VGNC	VGNC:82116
Others	CACNB4	NCBI