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Calcium channel, voltage-dependent, alpha 2/delta subunit 1

CACNA2D1, Cchl2a, CACNL2A, MHS-3, CACNA2, Ca(v)alpha2delta1
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, Cav1.2, ACID, POLYMERASE
Papers on CACNA2D1
Increased sensitivity to kindling in mice lacking TSP1.
Porter et al., Stanford, United States. In Neuroscience, Nov 2015
We observed decreased expression of voltage-dependent calcium channel subunit CACNA2D1 mRNA in TSP1, TSP2, and TSP1/2 KO mice.
Composition and in vitro cytotoxic activities of essential oil of Hedychium spicatum from different geographical regions of western Himalaya by principal components analysis.
Upreti et al., Lucknow, India. In Nat Prod Res, Aug 2015
The essential oils were coded as MHS-1, MHS-2, MHS-3 and MHS-4, and characterised using GC-FID and GC-MS.
Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.
Li et al., Beijing, China. In J Geriatr Cardiol, Jul 2015
We used direct sequencing to screen the exons and intron-exon boundaries of candidate genes that encode ion channels which contribute to the repolarization of the ventricular action potential, including KCNQ1, KCNH2, KCNE1, KCNE2, KCNJ2, CACNA1c, CACNB2b and CACNA2D1.
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Kure et al., Sendai, Japan. In Hum Genet, Jun 2015
Three candidate de novo mutations were identified in three cases, with two mutations occurring in two new candidate genes (NR2F1 and CACNA2D1) (21%, 3/14).
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.
Menten et al., Gent, Belgium. In Eur J Hum Genet, May 2015
Here we report three patients with a genomic aberration affecting the CACNA2D1 gene encoding the α2δ subunit of these voltage-gated calcium channels.
Functional characterization of CaVα2δ mutations associated with sudden cardiac death.
Parent et al., Montréal, Canada. In J Biol Chem, Mar 2015
The functional impact of genetic variants of CACNA2D1 (the gene encoding for CaVα2δ), associated with shorter repolarization QT intervals (the time interval between the Q and the T waves on the cardiac electrocardiogram), was investigated after recombinant expression of the full complement of L-type CaV1.2 subunits in human embryonic kidney 293 cells.
Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma.
Banerjee et al., Baltimore, United States. In Plos One, 2014
Our analysis identified recurrent somatic missense or nonsense mutations in 70 genes, 9 of which contained mutations predicted significant by all 4 algorithms: ATM, RUNX1T1, WDR17, NTRK3, TP53, TRMT12, CACNA2D1, INTS8, and KCNH8.
PBX3 is targeted by multiple miRNAs and is essential for liver tumour-initiating cells.
Zhang et al., Beijing, China. In Nat Commun, 2014
Moreover, PBX3 drives an essential transcriptional programme, activating the expression of genes critical for HCC TIC stemness including CACNA2D1, EpCAM, SOX2 and NOTCH3.
Mapping breakpoints of a familial chromosome insertion (18,7) (q22.1; q36.2q21.11) to DPP6 and CACNA2D1 genes in an azoospermic male.
Fan et al., Linyi, China. In Gene, 2014
The analysis revealed that the breakage in chromosome 7 disrupts two genes, dipeptidyl aminopeptidase-like protein 6 (DPP6) and contactin-associated protein-like 2 (CACNA2D1), the former participates in regulation of voltage-gated potassium channels, and the latter is one of the components in voltage-gated calcium channels.
Bipolar disorder with comorbid binge eating history: a genome-wide association study implicates APOB.
Biernacka et al., Rochester, United States. In J Affect Disord, 2014
RESULTS: Top ranking SNPs in the discovery set included rs6006893 in PRR5, rs17045162 in ANK2, rs13233490 near PER4, rs4665788 and rs10198175 downstream of APOB, rs2367911 in CACNA2D1, and rs7249968 near ZNF536.
GATA-4 induces changes in electrophysiological properties of rat mesenchymal stem cells.
Jiang et al., Suzhou, China. In Biochim Biophys Acta, 2014
Real-time PCR analyses showed that MSC(GATA-4) exhibited upregulated mRNA levels of Kv1.2, Kv2.1, SCN2a1, CCHL2a, KV1.4 and Kir1.1 channels versus MSC(Null).
Genotypic to expression profiling of bovine calcium channel, voltage-dependent, alpha-2/delta subunit 1 gene, and their association with bovine mastitis among Frieswal (HFX Sahiwal) crossbred cattle of Indian origin.
Sharma et al., Meerut, India. In Anim Biotechnol, 2014
Calcium channel, voltage-dependent, alpha-2/delta subunit 1 (CACNA2D1) gene is considered to be an important noncytokine candidate gene influencing mastitis.
Trends in diagnosis and control of bovine mastitis: a review.
Kumar et al., Meerut, India. In Pak J Biol Sci, 2014
toll like receptors (TLR) 2 and 4, interleukin (IL) 8; breast cancer type 1 susceptibility protein (BRCA1) and calcium channel voltage-dependent alpha 2/delta sub unit 1 (CACNA2D1) are also indispensable.
Patterned expression of ion channel genes in mouse dorsal raphe nucleus determined with the Allen Mouse Brain Atlas.
Commons et al., Boston, United States. In Brain Res, 2012
This study demonistrated that Cacna2d1 gene expression in mouse dorsal raphe nucleus
Identification of a disulfide bridge essential for structure and function of the voltage-gated Ca(2+) channel α(2)δ-1 auxiliary subunit.
Felix et al., Mexico. In Cell Calcium, 2012
Two Cys residues involved in the formation of an intermolecular disulfide bond are of critical importance for the structure and function of the alpha(2)delta-1 subunit.
"Benign" early repolarization versus malignant early abnormalities: clinical-electrocardiographic distinction and genetic basis.
Baranchuk et al., Santo André, Brazil. In Cardiol J, 2011
The inherited-familial forms are not frequent in IVF; however mutations were identified in the genes KCNJ8, DPP6, SCN5A, SCN3B, CACNA1C, CACNB2, and CACNA2D1.
Bidirectional integrative regulation of Cav1.2 calcium channel by microRNA miR-103: role in pain.
Landry et al., Bordeaux, France. In Embo J, 2011
The authors show here that a single microRNA, miR-103, simultaneously regulates the expression of the three subunits forming Cav1.2-comprising L-type calcium channel in a novel integrative regulation.
Association of the α(2)δ(1) subunit with Ca(v)3.2 enhances membrane expression and regulates mechanically induced ATP release in MLO-Y4 osteocytes.
Farach-Carson et al., Newark, United States. In J Bone Miner Res, 2011
The alpha(2) delta(1) subunit, previously described as an L-type auxiliary subunit, complexes with the T-type Ca(v)3.2 (alpha(1H)) subunit in MLO-Y4 cells.
Targeting of voltage-gated calcium channel α2δ-1 subunit to lipid rafts is independent from a GPI-anchoring motif.
Jones et al., Manchester, United Kingdom. In Plos One, 2010
alpha(2)delta-1 retains its type I transmembrane topology and its targeting to lipid rafts is governed by sequences upstream of the putative glycosylphosphatidylinositol anchor.
Brugada Syndrome
Hong et al., Seattle, United States. In Unknown Journal, 2005
Pathogenic variants in 16 genes have been associated with Brugada syndrome: SCN5A, SCN1B, SCN2B, SCN3B, GPD1L, CACNA1C, CACNB2, CACNA2D1, KCND3, KCNE3, KCNE1L (KCNE5), KCNJ8, HCN4, RANGRF, SLMAP, and TRPM4.
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