Genomes and Genes
Gene Symbol: Cacna2d2
Description: calcium channel, voltage-dependent, alpha 2/delta subunit 2
Alias: Cacna2d, a2d2, mKIAA0558, torpid, voltage-dependent calcium channel subunit alpha-2/delta-2, alpha 2 delta calcium channel subunit, ducky, protein ducky, voltage-gated calcium channel subunit alpha-2/delta-2
- Murad S, Kishimoto Y. Alpha hydroxylation of lignoceric acid to cerebronic acid during brain development. Diminished hydroxylase activity in myelin-deficient mouse mutants. J Biol Chem. 1975;250:5841-6 pubmed..The preparations of brains from wabbler-lethal, ducky, and weaver mice showed normal activity...
- Aanhaanen W, Boukens B, Sizarov A, Wakker V, de Gier de Vries C, van Ginneken A, et al. Defective Tbx2-dependent patterning of the atrioventricular canal myocardium causes accessory pathway formation in mice. J Clin Invest. 2011;121:534-44 pubmed publisher..Our results suggest that malformation of the annulus fibrosus and preexcitation arise from the disturbed development of the atrioventricular myocardium. ..
- Brill J, Klocke R, Paul D, Boison D, Gouder N, Klugbauer N, et al. entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse. J Biol Chem. 2004;279:7322-30 pubmed..The underlying mutation was mapped to chromosome 9 (60.1 centimorgans) and identified as an allele of the Cacna2d2 gene encoding the alpha2delta-2 subunit of voltage-gated calcium channels...
- Schlick B, Flucher B, Obermair G. Voltage-activated calcium channel expression profiles in mouse brain and cultured hippocampal neurons. Neuroscience. 2010;167:786-98 pubmed publisher..Developmental changes are likely determined by an intrinsic program and not regulated by changes in neuronal activity. ..
- Meier H, McPike A. Ducky, a neurological mutation in mice characterized by deficiency of cerebrosides. Exp Med Surg. 1970;28:256-69 pubmed
- Meier H. The neuropathology of ducky, a neurological mutation of the mouse. A pathological and preliminary histochemical study. Acta Neuropathol. 1968;11:15-28 pubmed
- Holz A, Frank M, Copeland N, Gilbert D, Jenkins N, Schwab M. Chromosomal localization of the myelin-associated oligodendrocytic basic protein and expression in the genetically linked neurological mouse mutants ducky and tippy. J Neurochem. 1997;69:1801-9 pubmed..3. Two nonallelic mouse mutants, tippy and ducky, with severe neurological phenotypes map to the vicinity of the Mobp locus...
- Barclay J, Rees M. Mouse models of spike-wave epilepsy. Epilepsia. 1999;40 Suppl 3:17-22 pubmed..The question this raises as to the validity of these models for human spike-wave epilepsy is considered. Finally, the effect these discoveries will have on the understanding and treatment of human spike-wave epilepsy are discussed. ..
- Crunelli V, Leresche N. Childhood absence epilepsy: genes, channels, neurons and networks. Nat Rev Neurosci. 2002;3:371-82 pubmed..Continuing efforts and comparisons of this type will help us to elucidate the multigenetic traits and pathophysiology of this form of generalized epilepsy. ..
- Ivanov S, Ward J, Tessarollo L, McAreavey D, Sachdev V, Fananapazir L, et al. Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene. Am J Pathol. 2004;165:1007-18 pubmedb>CACNA2D2 is a putative tumor suppressor gene located in the human chromosome 3p21.3 region that shows frequent allelic imbalances in lung, breast, and other cancers...
- Donato R, Page K, Koch D, Nieto Rostro M, Foucault I, Davies A, et al. The ducky(2J) mutation in Cacna2d2 results in reduced spontaneous Purkinje cell activity and altered gene expression. J Neurosci. 2006;26:12576-86 pubmed..These mice have mutations in Cacna2d2, which encodes the alpha2delta-2 calcium channel subunit...
- Porter B, Justice M, Copeland N, Jenkins N, Hunter D, Merlie J, et al. S-laminin: mapping to mouse chromosome 9 and expression in the linked mutants tippy and ducky. Genomics. 1993;16:278-81 pubmed..Finally, because the Lams gene mapped near two mutations that affect neuromuscular function, ducky (du) and tippy (tip), we assayed S-laminin by Southern blotting, immunoblotting, and immunohistochemistry in these ..
- Meisler M, Kearney J, Ottman R, Escayg A. Identification of epilepsy genes in human and mouse. Annu Rev Genet. 2001;35:567-88 pubmed..The development of pharmaceuticals directed towards specific epilepsy genotypes can be anticipated, and the introduction of patient mutations into the mouse genome will provide models for testing these targeted therapies. ..
- Fell B, Eckrich S, Blum K, Eckrich T, Hecker D, Obermair G, et al. ?2?2 Controls the Function and Trans-Synaptic Coupling of Cav1.3 Channels in Mouse Inner Hair Cells and Is Essential for Normal Hearing. J Neurosci. 2016;36:11024-11036 pubmed..A functional ?2?2-null mouse, the ducky mouse (du), showed elevated auditory brainstem response click and frequency-dependent hearing thresholds...
- Lerman M, Minna J. The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium. Cancer Res. 2000;60:6116-33 pubmed..Four genes showed loss-of-expression or reduced mRNA levels in non-small cell lung cancer (CACNA2D2/alpha2delta-2, SEMA3B [formerly SEMA(V), BLU, and HYAL1] or small cell lung cancer (SEMA3B, BLU, and HYAL1) cell ..
- Wang X, Whalley B, Stephens G. The du(2J) mouse model of ataxia and absence epilepsy has deficient cannabinoid CB? receptor-mediated signalling. J Physiol. 2013;591:3919-33 pubmed publisher..Many animal models of cerebellar ataxia display abnormalities in Ca²? channel function. The 'ducky' du(2J) mouse model of ataxia and absence epilepsy represents a clean knock-out of the auxiliary Ca²? channel ..
- Walter J, Alviña K, Womack M, Chevez C, Khodakhah K. Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia. Nat Neurosci. 2006;9:389-97 pubmed..Our data support the hypothesis that the precision of intrinsic pacemaking in Purkinje cells is essential for motor coordination and suggest that K(Ca) channels may constitute a potential therapeutic target in EA2...
- Davies A, Kadurin I, Alvarez Laviada A, Douglas L, Nieto Rostro M, Bauer C, et al. The alpha2delta subunits of voltage-gated calcium channels form GPI-anchored proteins, a posttranslational modification essential for function. Proc Natl Acad Sci U S A. 2010;107:1654-9 pubmed publisher..In conclusion, this study redefines our understanding of alpha(2)delta subunits, both in terms of their role in calcium-channel function and other roles in synaptogenesis. ..
- Tsuji S, Meier H. Esterase alterations in the liver and kidneys of ducky, a neurological mutation in mice. Biochem Genet. 1970;4:539-47 pubmed
- Barclay J, Balaguero N, Mione M, Ackerman S, Letts V, Brodbeck J, et al. Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J Neurosci. 2001;21:6095-104 pubmed..High-resolution genetic and physical mapping has resulted in the identification of the Cacna2d2 gene encoding the alpha2delta2 voltage-dependent calcium channel subunit...
- Mendus D, Rankin Gee E, Mustapha M, Porter B. Increased sensitivity to kindling in mice lacking TSP1. Neuroscience. 2015;305:302-8 pubmed publisher..Decreased CACNA2D2 mRNA was only detected in mice that lacked TSP1 and Î±2Î´-1/2 protein levels in the cortex were lower in the ..