CACNA2D2 - calcium voltage-gated channel auxiliary subunit alpha2delta 2 Gene

Also Known as CASVDD; CACNA2D

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9254

About CACNA2D2

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:50,362,613-50,504,244 (from NCBI)

This gene has 8 transcripts (splice variants), 269 orthologues, 4 paralogues and is associated with 1 phenotype. Biased expression in lung (RPKM 29.8), testis (RPKM 5.0) and 4 other tissues.

Summary

Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent Calcium Channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

CACNA2D2 Products (5)

mRNA Protein Name
NM_001005505.3 NP_001005505.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform a precursor
NM_001174051.3 NP_001167522.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform c precursor
NM_001291101.1 NP_001278030.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform d
NM_001410768.1 NP_001397697.1 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform e precursor
NM_006030.4 NP_006021.2 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform b precursor

CACNA2D2 Protein Structure

VWA_N

VWA_N: VWA N-terminal (141 - 265)

VWA

VWA: von Willebrand factor type A domain (291 - 454)

dCache_1

dCache_1: Cache domain (485 - 573)

VGCC_alpha2

VGCC_alpha2: Neuronal voltage-dependent calcium channel alpha 2acd (580 - 672)

  • 0
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  • 400
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  • 800
  • 1000
  • 1150 a.a.
Protein Preferred Names Protein Names

voltage-dependent calcium channel subunit alpha-2/delta-2

  • alpha 2 delta calcium channel subunit

Related Diseases

Diseases Alias
Cerebellar Atrophy With Seizures And Variable Developmental Delay

  • CASVDD
Ohtahara Syndrome
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
Encephalopathy

  • Brain Diseases

  • Encephalopathies

  • Toxic Encephalopathy

  • Toxic Brain Fever

  • Toxic Brain Inflammation

  • Toxic Brain Stem Inflammation

  • Toxic Cerebral Fever

  • Toxic Cerebrospinal Fever

  • Toxic Cerebrospinal Inflammation

  • Encephalopathy Nec

  • Encephalopathy Nos

  • Encephalopathy Disease

  • Encephalopathy Syndrome
Brugada Syndrome 4

  • BRGDA4

  • Brugada Syndrome, Type 4
Lujo Hemorrhagic Fever

  • Zambian Hemorrhagic Fever
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

  • BCKDKD

  • Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency

  • Bckdk Deficiency

  • Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency
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
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
Lung Cancer

  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma
Childhood Absence Epilepsy

  • Pyknolepsy

  • Petit Mal Epilepsy

  • Absence Seizures

  • Absence Seizure

  • Petit Mal Seizure

  • Absence Epilepsy, Childhood

  • Pykno-Epilepsy

  • Epilepsy, Absence

  • Absence Epilepsy

  • Pycnolepsy
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]
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-RS01802 CACNA2D2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CACNA2D2 RGD RGD:631360
Mus musculus CACNA2D2 MGD MGI:1929813
Felis catus CACNA2D2 VGNC VGNC:60303
Canis familiaris CACNA2D2 VGNC VGNC:38642
Bos taurus CACNA2D2 VGNC VGNC:26680
Macaca mulatta CACNA2D2 VGNC VGNC:70508
Others CACNA2D2 NCBI