CACNB2

Summary

Gene Symbol: CACNB2
Description: calcium voltage-gated channel auxiliary subunit beta 2
Alias: CACNLB2, CAVB2, MYSB, voltage-dependent L-type calcium channel subunit beta-2, CAB2, calcium channel voltage-dependent subunit beta 2, calcium channel, voltage-dependent, beta 2 subunit, lambert-Eaton myasthenic syndrome antigen B, myasthenic (Lambert-Eaton) syndrome antigen B
Species: human
Products:     CACNB2

Top Publications

  1. Volsen S, Day N, McCormack A, Smith W, Craig P, Beattie R, et al. The expression of voltage-dependent calcium channel beta subunits in human cerebellum. Neuroscience. 1997;80:161-74 pubmed
    ..Our cumulative data are consistent with the emerging view that different native alpha1/beta subunit associations occur in the CNS. ..
  2. Foell J, Balijepalli R, Delisle B, Yunker A, Robia S, Walker J, et al. Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization. Physiol Genomics. 2004;17:183-200 pubmed
    ..These results demonstrate a previously unappreciated heterogeneity of Ca(v)beta subunit isoforms in ventricular myocytes and suggest the presence of different subcellular populations of Ca2+ channels with distinct functional properties. ..
  3. Levy D, Ehret G, Rice K, Verwoert G, Launer L, Dehghan A, et al. Genome-wide association study of blood pressure and hypertension. Nat Genet. 2009;41:677-87 pubmed publisher
    ..genome-wide significance (P < 5 × 10(-8)) for SBP (ATP2B1, CYP17A1, PLEKHA7, SH2B3), six for DBP (ATP2B1, CACNB2, CSK-ULK3, SH2B3, TBX3-TBX5, ULK4) and one for hypertension (ATP2B1)...
  4. Colecraft H, Alseikhan B, Takahashi S, Chaudhuri D, Mittman S, Yegnasubramanian V, et al. Novel functional properties of Ca(2+) channel beta subunits revealed by their expression in adult rat heart cells. J Physiol. 2002;541:435-52 pubmed
    ..Overall, the work establishes a powerful experimental paradigm to explore novel functions of ion channel subunits in their native environments. ..
  5. Takahashi S, Mittman S, Colecraft H. Distinctive modulatory effects of five human auxiliary beta2 subunit splice variants on L-type calcium channel gating. Biophys J. 2003;84:3007-21 pubmed
  6. Taviaux S, Williams M, Harpold M, Nargeot J, Lory P. Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23. Hum Genet. 1997;100:151-4 pubmed
    ..b>CACNB2 (beta 2) and CACNB4 (beta 4), to human chromosomes 10p12 and 2q22-q23, respectively, by fluorescence in situ ..
  7. Lee M, Chen C, Lee C, Chen C, Chong M, Ouyang W, et al. Genome-wide association study of bipolar I disorder in the Han Chinese population. Mol Psychiatry. 2011;16:548-56 pubmed publisher
    ..74 × 10(-6)) and in CACNB2 (Calcium channel, voltage-dependent, ?-2 subunit) gene (rs11013860, P=5...
  8. Durairaj Pandian V, Giovannucci D, Vazquez G, Kumarasamy S. CACNB2 is associated with aberrant RAS-MAPK signaling in hypertensive Dahl Salt-Sensitive rats. Biochem Biophys Res Commun. 2019;: pubmed publisher
    ..studies (GWAS) have indicated that calcium (Ca2+) voltage-gated channel auxiliary subunit beta 2 (CACNB2) an L-type Ca2+ channel (LTCC) associated protein has strong association with hypertension...
  9. Chernyavskaya Y, Ebert A, Milligan E, Garrity D. Voltage-gated calcium channel CACNB2 (β2.1) protein is required in the heart for control of cell proliferation and heart tube integrity. Dev Dyn. 2012;241:648-62 pubmed publisher
    L-type calcium channels (LTCC) regulate calcium entry into cardiomyocytes. CACNB2 (β2) LTCC auxiliary subunits traffic the pore-forming CACNA subunit to the membrane and modulate channel kinetics...

More Information

Publications69

  1. Liang K, Wang J, Wang Y, Zhou Z, Ge S, Mei S, et al. The histologic, immunohistochemical, and genetic features of classical Hodgkin lymphoma and anaplastic large cell lymphoma with aberrant T-cell/B-cell antigen expression. Hum Pathol. 2019;84:309-320 pubmed publisher
    ..The results of this analysis showed that GNE and CACNB2 mutations, involved in the MAPK signaling pathway, may play an important role in cHL...
  2. Zhang T, Zhu L, Ni T, Liu D, Chen G, Yan Z, et al. Voltage-gated calcium channel activity and complex related genes and schizophrenia: A systematic investigation based on Han Chinese population. J Psychiatr Res. 2018;106:99-105 pubmed publisher
    ..Our study replicated the following previously identified susceptible loci: CACNA1C, CACNB2, OPRM1, GRM7 and PDE4B...
  3. Blancard M, Debbiche A, Kato K, Cardin C, Sabrina G, Gandjbakhch E, et al. An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation. Sci Rep. 2018;8:14619 pubmed publisher
    ..2 variants. Cav1.2 related genes, CACNA1C, CACNB2 and CACNA2D1, were screened in 65 probands. Missense variants were introduced in the Cav1...
  4. Tang J, He A, Li N, Chen X, Zhou X, Fan X, et al. Magnesium Sulfate-Mediated Vascular Relaxation and Calcium Channel Activity in Placental Vessels Different From Nonplacental Vessels. J Am Heart Assoc. 2018;7: pubmed publisher
    ..Relative mRNA expression of CACNA1D, CACNB2, and CACNB3 was significantly higher in PV than those in umbilical vessels, despite the fact that the ..
  5. Katiyar R, Weissgerber P, Roth E, Dörr J, Sothilingam V, Garcia Garrido M, et al. Influence of the β2-Subunit of L-Type Voltage-Gated Cav Channels on the Structural and Functional Development of Photoreceptor Ribbon Synapses. Invest Ophthalmol Vis Sci. 2015;56:2312-24 pubmed publisher
    The cacnb2 gene encodes the β2 subunit (Cavβ2) of voltage-gated Ca2+ channels in photoreceptors, and its targeted deletion in mice has previously been shown to cause altered retinal morphology and synaptic transmission...
  6. Mazzanti A, Underwood K, Nevelev D, Kofman S, Priori S. The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization. J Cardiovasc Electrophysiol. 2017;28:1226-1236 pubmed publisher
    ..channels (KCNH2, KCNQ1, and KCNJ2) and two that encode for subunits of the L-type calcium channels (CACNA1C and CACNB2)...
  7. Lotan A, Fenckova M, Bralten J, Alttoa A, Dixson L, Williams R, et al. Neuroinformatic analyses of common and distinct genetic components associated with major neuropsychiatric disorders. Front Neurosci. 2014;8:331 pubmed publisher
    ..The most widely shared subset of genes-common to five of six disorders-included ANK3, AS3MT, CACNA1C, CACNB2, CNNM2, CSMD1, DPCR1, ITIH3, NT5C2, PPP1R11, SYNE1, TCF4, TENM4, TRIM26, and ZNRD1...
  8. Ortiz Miranda S, Ji R, Jurczyk A, Aryee K, Mo S, Fletcher T, et al. A novel transgenic mouse model of lysosomal storage disorder. Am J Physiol Gastrointest Liver Physiol. 2016;311:G903-G919 pubmed publisher
    ..Lesions were limited to mice homozygous for transgene and independent of native Cacnb2 genomic copy number...
  9. Xie Y, Huang D, Wei L, Luo X. Further evidence for the genetic association between CACNA1I and schizophrenia. Hereditas. 2018;155:16 pubmed publisher
    ..Here we investigated the association between genetic variants in three calcium signaling pathway genes (CACNB2, CACNA1C and CACNA1I) and SCZ in 1615 SCZ cases and 1597 controls...
  10. Cañon S, Caballero R, Herraiz Martínez A, Pérez Hernández M, López B, Atienza F, et al. miR-208b upregulation interferes with calcium handling in HL-1 atrial myocytes: Implications in human chronic atrial fibrillation. J Mol Cell Cardiol. 2016;99:162-173 pubmed publisher
    ..miR-208b levels reduced the expression and function of L-type Ca2+ channel subunits (CACNA1C and CACNB2) as well as the sarcoplasmic reticulum-Ca2+ pump SERCA2...
  11. Qvist P, Christensen J, Vardya I, Rajkumar A, Mørk A, Paternoster V, et al. The Schizophrenia-Associated BRD1 Gene Regulates Behavior, Neurotransmission, and Expression of Schizophrenia Risk Enriched Gene Sets in Mice. Biol Psychiatry. 2017;82:62-76 pubmed publisher
    ..g., calcium channel subunits [Cacna1c and Cacnb2], cholinergic muscarinic receptor 4 [Chrm4)], dopamine receptor D2 [Drd2], and transcription factor 4 [..
  12. Allegue C, Coll M, Mates J, Campuzano O, Iglesias A, Sobrino B, et al. Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PLoS ONE. 2015;10:e0133037 pubmed publisher
    ..Twenty-eight genes were resequenced: AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, PKP2, ..
  13. Zhang L, Tester D, Lang D, Chen Y, Zheng J, Gao R, et al. Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China. Mayo Clin Proc. 2016;91:1503-1514 pubmed publisher
    ..Twelve of 44 SUNDS victims (SCN5A, SCN1B, CACNB2, CACNA1C, AKAP9, KCNQ1, KCNH2, KCNJ5, GATA4, NUP155, ABCC9) and 6 of 17 patients with BrS (SCN5A, CACNA1C; P>...
  14. Jha A, Singh A, Weissgerber P, Freichel M, Flockerzi V, Flavell R, et al. Essential roles for Cavβ2 and Cav1 channels in thymocyte development and T cell homeostasis. Sci Signal. 2015;8:ra103 pubmed publisher
    ..In mice, T cell-specific deletion of the gene encoding the β2 regulatory subunit of Cav channels (Cacnb2) reduced the abundances of the channels Cav1.2 and Cav1...
  15. Cocchi E, Fabbri C, Han C, Lee S, Patkar A, Masand P, et al. Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway. BMC Psychiatry. 2016;16:106 pubmed publisher
    ..9e-5 and p?=?0.001 in the Korean and STAR*D samples, respectively) and this pathway included CACNA1A, CACNA1C, and CACNB2 genes...
  16. Rougier J, Albesa M, Syam N, Halet G, Abriel H, Viard P. Ubiquitin-specific protease USP2-45 acts as a molecular switch to promote α2δ-1-induced downregulation of Cav1.2 channels. Pflugers Arch. 2015;467:1919-29 pubmed publisher
    ..These results suggest that USP2-45 binding to α2δ-1 promotes the de-ubiquitylation of both Cav1.2 and α2δ-1 subunits, in order to regulate the expression of Cav1.2 channels at the plasma membrane. ..
  17. Hong G, Chen X, Liu Y, Liu Y, Fu X, Lin S, et al. Genetic variations in MOV10 and CACNB2 are associated with hypertension in a Chinese Han population. Genet Mol Res. 2013;12:6220-7 pubmed publisher
    ..However, SNP rs4373814, a variant in CACNB2, showed a relevant association with a decreased risk of hypertension...
  18. Fatemifar G, Hoggart C, Paternoster L, Kemp J, Prokopenko I, Horikoshi M, et al. Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. Hum Mol Genet. 2013;22:3807-17 pubmed publisher
    ..Our results suggest that the genome-wide association approach is a powerful strategy for detecting variants involved in tooth eruption, and potentially craniofacial growth and more generally organ development. ..
  19. Stölting G, de Oliveira R, Guzman R, Miranda Laferte E, Conrad R, Jordan N, et al. Direct interaction of CaVβ with actin up-regulates L-type calcium currents in HL-1 cardiomyocytes. J Biol Chem. 2015;290:4561-72 pubmed publisher
    ..We propose a model in which CaVβ promotes anterograde trafficking of the L-type channels by anchoring them to actin filaments in their itinerary to the plasma membrane. ..
  20. Shang J, Zhang Z, Yin X, Chen M, Hao F, Wang K, et al. UV-B induced biosynthesis of a novel sunscreen compound in solar radiation and desiccation tolerant cyanobacteria. Environ Microbiol. 2017;: pubmed publisher
    ..by mysD-mysC2-mysC1 encoding proteins from 4-deoxygadusol, which was synthesized through the catalysis of mysA-mysB products...
  21. Soldatov N. CACNB2: An Emerging Pharmacological Target for Hypertension, Heart Failure, Arrhythmia and Mental Disorders. Curr Mol Pharmacol. 2015;8:32-42 pubmed
    ..b>CACNB2 is one of the four homologous genes coding for the auxiliary Cavβ subunits, which are important modulators of ..
  22. Takeuchi F, Isono M, Katsuya T, Yamamoto K, Yokota M, Sugiyama T, et al. Blood pressure and hypertension are associated with 7 loci in the Japanese population. Circulation. 2010;121:2302-9 pubmed publisher
    ..We have confirmed 7 loci associated with blood pressure and/or hypertension in the Japanese. These loci can guide fine-mapping efforts to pinpoint causal variants and causal genes with the integration of multiethnic results. ..
  23. Kazim A, Storm P, Zhang E, Renstrom E. Palmitoylation of Ca2+ channel subunit CaV?2a induces pancreatic beta-cell toxicity via Ca2+ overload. Biochem Biophys Res Commun. 2017;491:740-746 pubmed publisher
    ..RNA sequencing data showed that gene expression of human CACNB2, in particular CACNB2A (CaV?2a), is highest in islets when compared to other tissues...
  24. Hu D, Barajas Martinez H, Nesterenko V, Pfeiffer R, Guerchicoff A, Cordeiro J, et al. Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome. Pacing Clin Electrophysiol. 2010;33:274-85 pubmed publisher
    ..Our results suggest genetic variations leading to a loss-of-function in I(Na) coupled with a gain of function in I(Ca,L) may underlie the development of cardiac conduction disease without BrS. ..
  25. Cordeiro J, Marieb M, Pfeiffer R, Calloe K, Burashnikov E, Antzelevitch C. Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. J Mol Cell Cardiol. 2009;46:695-703 pubmed
    ..We report the first BrS mutation in CaCNB2b resulting in accelerated inactivation of L-type calcium channel current. Our results suggest that the faster current decay results in a loss-of-function responsible for the Brugada phenotype ..
  26. Ravindran A, Kobrinsky E, Lao Q, Soldatov N. Functional properties of the CaV1.2 calcium channel activated by calmodulin in the absence of alpha2delta subunits. Channels (Austin). 2009;3:25-31 pubmed
    ..2 channel. The data suggest a previously unknown action of CaM that in the presence of CaVbeta; translates into activation of the alpha2delta-deficient calcium channel and alteration of its properties. ..
  27. Breitenkamp A, Matthes J, Nass R, Sinzig J, Lehmkuhl G, Nurnberg P, et al. Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function. PLoS ONE. 2014;9:e95579 pubmed publisher
    ..2 (CACNA1C) and CaV?2 (CACNB2) were recently identified as risk loci for psychiatric diseases...
  28. Brice N, Dolphin A. Differential plasma membrane targeting of voltage-dependent calcium channel subunits expressed in a polarized epithelial cell line. J Physiol. 1999;515 ( Pt 3):685-94 pubmed
    ..6. In conclusion, the VDCC alpha1 subunit appears to be the primary determinant for targeting the VDCC complex, but the beta subunit can modify this destination, particularly for alpha1A. ..
  29. Harry J, Kobrinsky E, Abernethy D, Soldatov N. New short splice variants of the human cardiac Cavbeta2 subunit: redefining the major functional motifs implemented in modulation of the Cav1.2 channel. J Biol Chem. 2004;279:46367-72 pubmed
  30. Williams M, Feldman D, McCue A, Brenner R, Velicelebi G, Ellis S, et al. Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype. Neuron. 1992;8:71-84 pubmed
    ..At least two forms of neuronal alpha 1D were identified. Different forms of alpha 2 and beta transcripts were also identified in CNS, skeletal muscle, and aorta tissues. ..
  31. Liu A, Wang Y, Sahana G, Zhang Q, Liu L, Lund M, et al. Genome-wide Association Studies for Female Fertility Traits in Chinese and Nordic Holsteins. Sci Rep. 2017;7:8487 pubmed publisher
    ..The genes IL6R, SLC39A12, CACNB2, ZEB1, ZMIZ1 and FAM213A were concluded to be strong candidate genes for female fertility in Holsteins.
  32. Liang X, Slifer M, Martin E, Schnetz Boutaud N, Bartlett J, Anderson B, et al. Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10. Hum Mutat. 2009;30:463-71 pubmed publisher
  33. Lin Y, Lai X, Chen B, Xu Y, Huang B, Chen Z, et al. Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in She ethnic minority of China. Atherosclerosis. 2011;219:709-14 pubmed publisher
    ..We genotyped 7 variants in CYP17A1, PLEKHA7, CACNB2, ATP2B1, TBX3-TBX5, CSK-ULK3 and SH2B3 reported by the previous GWAs on Europeans...
  34. Rosenfeld M, Wong E, Dalmau J, Manley G, Posner J, Sher E, et al. Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen. Ann Neurol. 1993;33:113-20 pubmed
    ..resulted in the isolation of a complementary DNA clone encoding an antigen we call myasthenic syndrome antigen B (MysB)...
  35. Niu Y, Gong Y, Langaee T, Davis H, Elewa H, Beitelshees A, et al. Genetic variation in the beta2 subunit of the voltage-gated calcium channel and pharmacogenetic association with adverse cardiovascular outcomes in the INternational VErapamil SR-Trandolapril STudy GENEtic Substudy (INVEST-GENES). Circ Cardiovasc Genet. 2010;3:548-55 pubmed publisher
    Single-nucleotide polymorphisms (SNPs) within the regulatory ?2 subunit of the voltage-gated calcium channel (CACNB2) may contribute to variable treatment response to antihypertensive drugs and adverse cardiovascular outcomes...
  36. Day N, Volsen S, McCormack A, Craig P, Smith W, Beattie R, et al. The expression of voltage-dependent calcium channel beta subunits in human hippocampus. Brain Res Mol Brain Res. 1998;60:259-69 pubmed
  37. Gerhardstein B, Puri T, Chien A, Hosey M. Identification of the sites phosphorylated by cyclic AMP-dependent protein kinase on the beta 2 subunit of L-type voltage-dependent calcium channels. Biochemistry. 1999;38:10361-70 pubmed
    ..The sites phosphorylated by PKA are not substrates for protein kinase C (PKC), as the mutated beta 2 subunits lacking PKA sites remained good substrates for PKC. ..
  38. Bunemann M, Gerhardstein B, Gao T, Hosey M. Functional regulation of L-type calcium channels via protein kinase A-mediated phosphorylation of the beta(2) subunit. J Biol Chem. 1999;274:33851-4 pubmed
    ..The data indicate that the PKA-mediated stimulation of cardiac L-type Ca(2+) currents may be at least partially caused by phosphorylation of the beta(2) subunit at Ser-478 and Ser-479. ..
  39. Barana A, Matamoros M, Dolz Gait n P, P rez Hern ndez M, Amor s I, N ez M, et al. Chronic atrial fibrillation increases microRNA-21 in human atrial myocytes decreasing L-type calcium current. Circ Arrhythm Electrophysiol. 2014;7:861-8 pubmed publisher
    ..Computational analyses predicted that CACNA1C and the mRNA of the ?2 subunit of the calcium channel (CACNB2) could be potential targets for miR-21...
  40. Juraeva D, Haenisch B, Zapatka M, Frank J, Witt S, Mühleisen T, et al. Integrated pathway-based approach identifies association between genomic regions at CTCF and CACNB2 and schizophrenia. PLoS Genet. 2014;10:e1004345 pubmed publisher
    ..For two genes, i.e. CTCF and CACNB2, evidence for association with schizophrenia was available (at the gene-level) in both the discovery study and ..
  41. Burashnikov E, Pfeiffer R, Barajas Martinez H, Delpón E, Hu D, Desai M, et al. Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm. 2010;7:1872-82 pubmed publisher
    ..These results are the first to identify CACNA2D1 as a novel BrS susceptibility gene and CACNA1C, CACNB2, and CACNA2D1 as possible novel ERS susceptibility genes.
  42. Hong K, Jin H, Lim J, Kim S, Go M, Oh B. Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. J Hum Genet. 2010;55:336-41 pubmed publisher
  43. Nyholt D, LaForge K, Kallela M, Alakurtti K, Anttila V, Farkkila M, et al. A high-density association screen of 155 ion transport genes for involvement with common migraine. Hum Mol Genet. 2008;17:3318-31 pubmed publisher
    ..SNPs within 12 genes (KCNB2, KCNQ3, CLIC5, ATP2C2, CACNA1E, CACNB2, KCNE2, KCNK12, KCNK2, KCNS3, SCN5A and SCN9A) with promising nominal association (0.00041 < P < 0...
  44. Yada H, Murata M, Shimoda K, Yuasa S, Kawaguchi H, Ieda M, et al. Dominant negative suppression of Rad leads to QT prolongation and causes ventricular arrhythmias via modulation of L-type Ca2+ channels in the heart. Circ Res. 2007;101:69-77 pubmed
  45. Antzelevitch C, Pollevick G, Cordeiro J, Casis O, Sanguinetti M, Aizawa Y, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007;115:442-9 pubmed
    ..and heterologous expression studies revealed loss-of-function missense mutations in CACNA1C (A39V and G490R) and CACNB2 (S481L) encoding the alpha1- and beta2b-subunits of the L-type calcium channel...
  46. Lie A, Blumcke I, Volsen S, Wiestler O, Elger C, Beck H. Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy. Neuroscience. 1999;93:449-56 pubmed
    ..Altered expression of these beta subunits may lead to increased currents carried by voltage-dependent calcium channels and to enhanced synaptic excitability. ..
  47. Amare A, Schubert K, Klingler Hoffmann M, Cohen Woods S, Baune B. The genetic overlap between mood disorders and cardiometabolic diseases: a systematic review of genome wide and candidate gene studies. Transl Psychiatry. 2017;7:e1007 pubmed publisher
    ..These genes include MTHFR, CACNA1D, CACNB2, GNAS, ADRB1, NCAN, REST, FTO, POMC, BDNF, CREB, ITIH4, LEP, GSK3B, SLC18A1, TLR4, PPP1R1B, APOE, CRY2, HTR1A, ..
  48. Robertson H, Zumpano K. Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome. Gene. 1997;205:203-17 pubmed
    ..Thus, this transposon had a considerable insertional mutagenic effect on past primate genomes. ..
  49. Fabbri C, Corponi F, Albani D, Raimondi I, Forloni G, Schruers K, et al. Pleiotropic genes in psychiatry: Calcium channels and the stress-related FKBP5 gene in antidepressant resistance. Prog Neuropsychopharmacol Biol Psychiatry. 2018;81:203-210 pubmed publisher
    ..Three samples with major depressive disorder (total=671) were genotyped for 44 SNPs in 8 candidate genes (CACNA1C, CACNB2, ANK3, GRM7, TCF4, ITIH3, SYNE1, FKBP5)...
  50. Yamaguchi H, Okuda M, Mikala G, Fukasawa K, Varadi G. Cloning of the beta(2a) subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha(2)/delta and beta(2a) on the membrane expression of the alpha(1C) subunit. Biochem Biophys Res Commun. 2000;267:156-63 pubmed
  51. Petkeviciene J, Klumbiene J, Simonyte S, Ceponienė I, Jureniene K, Kriaucioniene V, et al. Physical, behavioural and genetic predictors of adult hypertension: the findings of the Kaunas Cardiovascular Risk Cohort study. PLoS ONE. 2014;9:e109974 pubmed publisher
    ..Subjects were genotyped for AGT (M235T), ACE (I/D, rs4340), ADM (rs7129220), and CACNB2 (rs12258967) genes polymorphisms...
  52. Finlin B, Crump S, Satin J, Andres D. Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases. Proc Natl Acad Sci U S A. 2003;100:14469-74 pubmed
    ..Thus, the RGK GTPase family may provide a mechanism for achieving cross talk between Ras-related GTPases and electrical signaling pathways. ..
  53. Risgaard B, Jabbari R, Refsgaard L, Holst A, Haunsø S, Sadjadieh A, et al. High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013;84:489-95 pubmed publisher
    ..Genotyping the four common ESP-derived variants CACNA2D1 S709N, SCN5A F2004L, CACNB2 S143F, and CACNB2 T450I in the Danish controls, we found a genotype prevalence comparable with that found in ESP...
  54. Ho J, Levy D, Rose L, Johnson A, Ridker P, Chasman D. Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study. J Hypertens. 2011;29:62-9 pubmed publisher
    ..Using this strategy, we report a newly identified blood pressure locus, BLK-GATA4, that may further understanding of the complex genetic pathways regulating blood pressure. ..
  55. Allen T, Mikala G. Effects of temperature on human L-type cardiac Ca2+ channels expressed in Xenopus oocytes. Pflugers Arch. 1998;436:238-47 pubmed
    ..4 (alpha1C-Delta1633). These observations differ markedly from those made in studies of cardiomyocytes, and suggest that enhanced sensitivity may depend on the membrane environment, channel assembly or other regulatory factors. ..
  56. Kanter R, Pfeiffer R, Hu D, Barajas Martinez H, Carboni M, Antzelevitch C. Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. Circulation. 2012;125:14-22 pubmed publisher
    ..Infants having rapid ventricular tachycardia and conduction abnormalities in the absence of structural or metabolic abnormalities are likely to have disease-causing mutations in cardiac depolarizing channels. ..
  57. Rosenfeld M, Wong E, Dalmau J, Manley G, Egan D, Posner J, et al. Sera from patients with Lambert-Eaton myasthenic syndrome recognize the beta-subunit of Ca2+ channel complexes. Ann N Y Acad Sci. 1993;681:408-11 pubmed
  58. Zhang X, Xie J, Zhu S, Chen Y, Wang L, Xu B. Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy. Medicine (Baltimore). 2017;96:e7010 pubmed publisher
    ..1598C>T (p.Ser533Leu) mutation in voltage-dependent l-type calcium channel subunit beta-2 (CACNB2) was present in all severely affected HCM patients, but not in those moderately affected or genotype-positive ..
  59. Brust P, Simerson S, McCue A, Deal C, Schoonmaker S, Williams M, et al. Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly. Neuropharmacology. 1993;32:1089-102 pubmed
    ..Our results demonstrate that alpha 1, alpha 2 and beta subunits together contribute to the efficient assembly and functional expression of voltage-dependent Ca2+ channel complexes. ..