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

Homo sapiens

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

Gene ID: 785 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in regulation of voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	11880487	GOA

Cellular Component GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01808	CACNB4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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