CACNA2D1 - calcium voltage-gated channel auxiliary subunit alpha2delta 1 Gene

Also Known as CACNA2; CCHL2A; DEE110; CACNL2A; LINC01112; lncRNA-N3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 781

About CACNA2D1

Cytogenetic location: 7q21.11 Genomic coordinates (GRCh38): 7:81,946,444-82,443,956 (from NCBI)

This gene has 13 transcripts (splice variants), 284 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 8.0), heart (RPKM 5.6) and 21 other tissues.

Summary

The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent Calcium Channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]

CACNA2D1 Products (3)

mRNA	Protein	Name
NM_000722.4	NP_000713.2	voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 1 preproprotein
NM_001302890.2	NP_001289819.1	voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 2 precursor
NM_001366867.1	NP_001353796.1	voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
contributes to voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	11160515	GOA
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	1309651	GOA
enables voltage-gated calcium channel activity	IGI IGI: Inferred from genetic interaction	21883149	GOA
contributes to voltage-gated calcium channel activity involved in bundle of His cell action potential	IMP IMP: Inferred from mutant phenotype	21383000	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in calcium ion transport	IDA IDA: Inferred from direct assay	1309651	GOA
involved in cardiac muscle cell action potential involved in contraction	IMP IMP: Inferred from mutant phenotype	25527503	GOA
involved in cellular response to amyloid-beta	IGI IGI: Inferred from genetic interaction	21883149	GOA
involved in membrane depolarization during bundle of His cell action potential	IMP IMP: Inferred from mutant phenotype	21383000	GOA
involved in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IGI IGI: Inferred from genetic interaction	21883149	GOA
involved in 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	25527503	GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	25527503	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of L-type voltage-gated calcium channel complex	IDA IDA: Inferred from direct assay	1309651	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	35293990	GOA
part of voltage-gated calcium channel complex	IDA IDA: Inferred from direct assay	11160515	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

CACNA2D1 Protein Structure

VWA_N

VWA

dCache_1

VGCC_alpha2

0
200
400
600
800
1000
1103 a.a.

Protein Preferred Names	Protein Names
voltage-dependent calcium channel subunit alpha-2/delta-1	alpha2delta-1

Recombinant CACNA2D1 Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P72109	CACNA2D1 Protein, Human (His-SUMO)	P54289 (Q528-N668)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Familial Short Qt Syndrome	Sqts Genetic Short Qt Syndrome
Short Qt Syndrome	Sqts Familial Short Qt 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]
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
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
Brugada Syndrome 4	BRGDA4 Brugada Syndrome, Type 4
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
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
Long Qt Syndrome 2	LQT2 Long Qt Syndrome, Acquired, Reduced Susceptibility To Long Qt Syndrome 1/2 Long Qt Syndrome 2/3 Long Qt Syndrome 2/5 Long Qt Syndrome 2, Acquired, Susceptibility To Long Qt Syndrome, Acquired, Reduced Long Qt Syndrome Type 2 Long Qt Syndrome 2/9 Lqt1/2 Lqt2/3 Lqt2/5 Lqt2/9 Susceptibility To Acquired Long Qt Syndrome 2 Long Qt Syndrome-2 Qt Syndrome, Long, Type 2 Long Qt Syndrome 1-2 Long Qt Syndrome 2-3 Long Qt Syndrome 2-5 Long Qt Syndrome 9
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
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
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
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

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 (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS01801	CACNA2D1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19290	Cacna2d1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25780	Cacna2d1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CACNA2D1	VGNC	VGNC:26679
Macaca mulatta	CACNA2D1	VGNC	VGNC:80803
Rattus norvegicus	CACNA2D1	RGD	RGD:2247
Canis familiaris	CACNA2D1	VGNC	VGNC:38641
Mus musculus	CACNA2D1	MGD	MGI:88295
Felis catus	CACNA2D1	VGNC	VGNC:60302
Others	CACNA2D1	NCBI