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

Homo sapiens

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

Gene ID: 781 | Gene type: protein coding

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

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.	Product Name	Accession	Purity
HY-P72109	CACNA2D1 Protein, Human (His-SUMO)	P54289 (Q528-N668)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01801	CACNA2D1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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