CACNB2 - calcium voltage-gated channel auxiliary subunit beta 2 Gene

Also Known as CAB2; MYSB; CAVB2; CACNLB2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 783

About CACNB2

Cytogenetic location: 10p12.33-p12.31 Genomic coordinates (GRCh38): 10:18,140,424-18,543,557 (from NCBI)

This gene has 26 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 4.0), adrenal (RPKM 2.4) and 25 other tissues.

Summary

This gene encodes a subunit of a voltage-dependent Calcium Channel protein that is a member of the voltage-gated Calcium Channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]

CACNB2 Products (11)

mRNA	Protein	Name
NM_000724.4	NP_000715.2	voltage-dependent L-type calcium channel subunit beta-2 isoform 1
NM_001167945.2	NP_001161417.1	voltage-dependent L-type calcium channel subunit beta-2 isoform 9
NM_001330060.2	NP_001316989.1	voltage-dependent L-type calcium channel subunit beta-2 isoform 10
NM_001410882.1	NP_001397811.1	voltage-dependent L-type calcium channel subunit beta-2 isoform 11
NM_201570.3	NP_963864.1	voltage-dependent L-type calcium channel subunit beta-2 isoform 7
NM_201571.4	NP_963865.2	voltage-dependent L-type calcium channel subunit beta-2 isoform 6
NM_201572.4	NP_963866.2	voltage-dependent L-type calcium channel subunit beta-2 isoform 8
NM_201590.3	NP_963884.2	voltage-dependent L-type calcium channel subunit beta-2 isoform 3
NM_201593.3	NP_963887.2	voltage-dependent L-type calcium channel subunit beta-2 isoform 5
NM_201596.3	NP_963890.2	voltage-dependent L-type calcium channel subunit beta-2 isoform 2
NM_201597.3	NP_963891.1	voltage-dependent L-type calcium channel subunit beta-2 isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to high voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	1309651	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17525370	GOA
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	1309651	GOA
contributes to voltage-gated calcium channel activity involved in AV node cell action potential	IMP IMP: Inferred from mutant phenotype	17224476	GOA
contributes to voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	17224476	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion import	IDA IDA: Inferred from direct assay	1309651	GOA
involved in membrane depolarization during AV node cell action potential	IMP IMP: Inferred from mutant phenotype	17224476	GOA
involved in membrane depolarization during atrial cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	17224476	GOA
involved in positive regulation of calcium ion transport	IDA IDA: Inferred from direct assay	1309651	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	17224476	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of L-type voltage-gated calcium channel complex	IDA IDA: Inferred from direct assay	1309651	GOA
part of voltage-gated calcium channel complex	IDA IDA: Inferred from direct assay	17224476	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

CACNB2 Protein Structure

VGCC_beta4Aa_N

Guanylate_kin

0
200
400
600
660 a.a.

Protein Preferred Names	Protein Names
voltage-dependent L-type calcium channel subunit beta-2	calcium channel voltage-dependent subunit beta 2

CACNB2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CACNB2	Q08289	CTBP2	Homo sapiens	P56545-3	Y2H Prey Pooling	32296183
Intra	CACNB2	Q08289	CTBP2	Homo sapiens	P56545-3	Y2H Array	32296183
Intra	CACNB2	Q08289	TMEM174	Homo sapiens	Q8WUU8	Validated Y2H	32296183
Intra	CACNB2	Q08289	TMEM174	Homo sapiens	Q8WUU8	Y2H Array	32296183
Intra	CACNB2	Q08289	TMEM174	Homo sapiens	Q8WUU8	Y2H Prey Pooling	32296183
Intra	CACNB2	Q08289	PRMT5	Homo sapiens	O14744	Y2H Prey Pooling	32296183
Intra	CACNB2	Q08289	PRMT5	Homo sapiens	O14744	Y2H Array	32296183
Intra	CACNB2	Q08289	HEXIM2	Homo sapiens	Q96MH2	Y2H Array	32296183
Intra	CACNB2	Q08289	HEXIM2	Homo sapiens	Q96MH2	Validated Y2H	32296183
Intra	CACNB2	Q08289	HEXIM2	Homo sapiens	Q96MH2	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Brugada Syndrome 4	BRGDA4 Brugada Syndrome, Type 4
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Syndrome Eaton-Lambert Syndrome Lems Lambert Eaton Myasthenic Syndrome Eaton Lambert Syndrome Lambert Eaton Syndrome Myasthenic Syndrome Of Lambert-Eaton Myasthenic-Myopathic Syndrome Of Lambert-Eaton Lems - [Lambert-Eaton Myasthenic Syndrome]
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]
Right Bundle Branch Block	Right Bundle Branch Block With Left Posterior Fascicular Block
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
Short Qt Syndrome	Sqts Familial Short Qt Syndrome
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Arrhythmogenic Right Ventricular Dysplasia 10 ARVD10 Arrhythmogenic Right Ventricular Cardiomyopathy 10 Arvc10 Familial Arrhythmogenic Right Ventricular Dysplasia 10 Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Distal Muscular Dystrophy With Anterior Tibial Onset	Dmat
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

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.	Product Name	Effect	Purity	Rare Diseases
HY-RS01806	CACNB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CACNB2	VGNC	VGNC:26684
Canis familiaris	CACNB2	VGNC	VGNC:38645
Felis catus	CACNB2	VGNC	VGNC:60307
Macaca mulatta	CACNB2	VGNC	VGNC:70510
Mus musculus	CACNB2	MGD	MGI:894644
Rattus norvegicus	CACNB2	RGD	RGD:67385
Others	CACNB2	NCBI