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

Homo sapiens

Also known as CAB2; MYSB; CAVB2; CACNLB2

Gene ID: 783 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01806	CACNB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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