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Calcium channel, voltage-dependent, alpha 2/delta subunit 4

CACNA2D4, voltage-gated calcium channel alpha(2)delta-4 subunit
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. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. 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: CACNA1F, ROD, CAN, POLYMERASE, Cav1.2
Papers on CACNA2D4
A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights.
Casarosa et al., Trento, Italy. In Invest Ophthalmol Vis Sci, Jul 2015
PURPOSE: Mutations in CACNA2D4 exon 25 cause photoreceptor dysfunction in humans (c.2406C→A mutation) and mice (c.2451insC mutation).
A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.
Miyadera et al., Tsu, Japan. In Plos One, 2014
Homozygosity mapping ruled out most known CSNB candidates as well as CACNA2D4 and GNB3.
TMEM16A is associated with voltage-gated calcium channels in mouse retina and its function is disrupted upon mutation of the auxiliary α2δ4 subunit.
Gargini et al., Pisa, Italy. In Front Cell Neurosci, 2014
In order to investigate the relationship between VGCC and TMEM channels, we analyzed the retina of wild type (WT) and Cacna2d4 mutant mice, in which the VGCC auxiliary α2δ4 subunit carries a nonsense mutation, disrupting the normal channel function.
Whole-exome sequencing in familial atrial fibrillation.
National Heart et al., Nashville, United States. In Eur Heart J, 2014
Two candidate AF variants in the calcium channel subunit genes (CACNB2 and CACNA2D4) were identified in two separate families using expression data and predicted function.
Identification of submicroscopic genetic changes and precise breakpoint mapping in myelofibrosis using high resolution mate-pair sequencing.
Tefferi et al., Rochester, United States. In Am J Hematol, 2013
We describe seven novel deletions/translocations in five patients (including two with normal karyotype) whose breakpoints were PCR-validated and involved MACROD2, CACNA2D4, TET2, SGMS2, LRBA, SH3D19, INTS3, FOP (CHTOP), SCLT1, and PHF17.
Analysis of cell surface markers specific for transplantable rod photoreceptors.
Ader et al., Dresden, Germany. In Mol Vis, 2012
Reverse transcriptase polymerase chain reaction identified Atp8a2, Cacna2d4, Cadm2, Cnga1, Kcnv2, and Pcdh21 as expressed in the retina and only a few additional tissues.
Ultrafast genome-wide scan for SNP-SNP interactions in common complex disease.
Pe'er et al., New York City, United States. In Genome Res, 2012
We applied our method to the Wellcome Trust bipolar disorder data and found a significant interaction between SNPs located within genes encoding two calcium channel subunits: RYR2 on chr1q43 and CACNA2D4 on chr12p13 (LD-contrast test, ).
Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.
Del-Favero et al., Antwerp, Belgium. In Am J Med Genet B Neuropsychiatr Genet, 2012
A rare, partial deletion of 35.7 kb in CACNA2D4 in two unrelated late onset bipolar I patients and in one control individual, were identified.
1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay.
Yu et al., Kansas City, United States. In Eur J Med Genet, 2011
The deleted region contains eight annotated genes (ERC1, FBXL14, WNT5B, ADIPOR2, CACNA2D4, LRTM2, DCP1B, and CACNA1C).
Genotyping microarray for CSNB-associated genes.
Berger et al., Zürich, Switzerland. In Invest Ophthalmol Vis Sci, 2009
Subsequently, oligonucleotides were designed representing 126 sequence variations in RHO, CABP4, CACNA1F, CACNA2D4, GNAT1, GRM6, NYX, PDE6B, and SAG and spotted on the chip.
Methylation of the calcium channel-related gene, CACNA2D3, is frequent and a poor prognostic factor in gastric cancer.
Akiyama et al., Tokyo, Japan. In Gastroenterology, 2008
BACKGROUND & AIMS: The calcium channel voltage-dependent alpha2delta subunit consists of 4 genes, CACNA2D1 to CACNA2D4, of which CACNA2D2 and CACNA2D3 are located on 3p21.3 and 3p21.1, respectively.
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
Berger et al., Zürich, Switzerland. In Am J Hum Genet, 2006
We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones.
Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.
Berger et al., Zürich, Switzerland. In Invest Ophthalmol Vis Sci, 2006
The Cacna2d4 mutation underlies a novel channelopathy leading to cone-rod dysfunction in the visual system of mice
Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.
D'Andrea et al., United States. In Mol Pharmacol, 2002
Calcium channel alpha(2)delta-4 subunit has limited distribution in special cell types of the pituitary, adrenal gland, colon, and fetal liver.
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