CACNA2D1

Summary

Gene Symbol: CACNA2D1
Description: calcium voltage-gated channel auxiliary subunit alpha2delta 1
Alias: CACNA2, CACNL2A, CCHL2A, LINC01112, lncRNA-N3, voltage-dependent calcium channel subunit alpha-2/delta-1, calcium channel, L type, alpha 2 polypeptide, calcium channel, voltage-dependent, alpha 2/delta subunit 1, dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit, voltage-gated calcium channel subunit alpha-2/delta-1
Species: human
Products:     CACNA2D1

Top Publications

  1. 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
    ..CACNA1C, CACNB2b, and CACNA2D1 genes of 162 probands with BrS and BrS+SQT, 19 with IVF, and 24 with ERS were screened by direct sequencing...
  2. Stotz S, Barr W, McRory J, Chen L, Jarvis S, Zamponi G. Several structural domains contribute to the regulation of N-type calcium channel inactivation by the beta 3 subunit. J Biol Chem. 2004;279:3793-800 pubmed
    ..2 did not alter the regulation of the channel by wild type and chimeric beta subunits. Hence, the molecular underpinnings of beta subunit regulation of voltage-gated calcium channels appear to vary with calcium channel subtype. ..
  3. 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. ..
  4. Bell D, Butcher A, Berrow N, Page K, Brust P, Nesterova A, et al. Biophysical properties, pharmacology, and modulation of human, neuronal L-type (alpha(1D), Ca(V)1.3) voltage-dependent calcium currents. J Neurophysiol. 2001;85:816-27 pubmed
  5. Schleithoff L, Mehrke G, Reutlinger B, Lehmann Horn F. Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2). Genomics. 1999;61:201-9 pubmed
    b>CACNA2 encodes the alpha(2)/delta subunit of the human voltage-gated calcium channels and is located in the candidate region of malignant hyperthermia susceptibility type 3 (MHS3)...
  6. Wang M, Offord J, Oxender D, Su T. Structural requirement of the calcium-channel subunit alpha2delta for gabapentin binding. Biochem J. 1999;342 ( Pt 2):313-20 pubmed
    ..Further single amino acid replacement mutagenesis within these regions identified Arg(217) as critical for gabapentin binding. ..
  7. Field M, Cox P, Stott E, Melrose H, Offord J, Su T, et al. Identification of the alpha2-delta-1 subunit of voltage-dependent calcium channels as a molecular target for pain mediating the analgesic actions of pregabalin. Proc Natl Acad Sci U S A. 2006;103:17537-42 pubmed
    ..These studies show conclusively that the analgesic actions of pregabalin are mediated through the alpha2-delta-1 subunit of voltage-gated calcium channels and establish this subunit as a therapeutic target for pain control. ..
  8. Hoppa M, Lana B, Margas W, Dolphin A, Ryan T. ?2? expression sets presynaptic calcium channel abundance and release probability. Nature. 2012;486:122-5 pubmed publisher
    ..Our data reveal dual functionality of these clinically important VGCC subunits, allowing synapses to make more efficient use of Ca(2+) entry to drive neurotransmitter release. ..
  9. Zhou J, Li D, Chen S, Luo Y, Pan H. The α2δ-1-NMDA receptor coupling is essential for corticostriatal long-term potentiation and is involved in learning and memory. J Biol Chem. 2018;293:19354-19364 pubmed publisher
    ..We also found that α2δ-1 (previously known as a subunit of voltage-gated calcium channels; encoded by the Cacna2d1 gene) physically interacted with NMDARs in the striatum of mice and humans, indicating that this cross-talk ..

More Information

Publications59

  1. Howarth F, Qureshi M, Jayaprakash P, Parekh K, Oz M, Dobrzynski H, et al. The Pattern of mRNA Expression Is Changed in Sinoatrial Node from Goto-Kakizaki Type 2 Diabetic Rat Heart. J Diabetes Res. 2018;2018:8454078 pubmed publisher
    ..3), Cacna1g (Cav3.1), Cacna1h (Cav3.2), Cacna2d1 (Cavα2δ1), Cacna2d3 (Cavα2δ3), and Cacng4 ..
  2. Sui X, Geng J, Li Y, Zhu G, Wang W. Calcium channel α2δ1 subunit (CACNA2D1) enhances radioresistance in cancer stem-like cells in non-small cell lung cancer cell lines. Cancer Manag Res. 2018;10:5009-5018 pubmed publisher
    ..Voltage-gated calcium channel α2δ1 subunit (encoded by the gene CACNA2D1) isoform 5 is a marker of CSCs in hepatocellular carcinoma...
  3. 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
    ..In addition, several novel loci including CACNA2D1, PDE4D, NALCN, and CACNA2D3 were also identified to be associated with SCZ in our Han Chinese sample...
  4. 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...
  5. Hino Fukuyo N, Kikuchi A, Arai Ichinoi N, Niihori T, Sato R, Suzuki T, et al. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Hum Genet. 2015;134:649-58 pubmed publisher
    ..novo mutations were identified in three cases, with two mutations occurring in two new candidate genes (NR2F1 and CACNA2D1) (21%, 3/14)...
  6. Ma H, Chen S, Chen H, Li L, Li D, Zhou J, et al. α2δ-1 Is Essential for Sympathetic Output and NMDA Receptor Activity Potentiated by Angiotensin II in the Hypothalamus. J Neurosci. 2018;38:6388-6398 pubmed publisher
    ..In this study, we determined the interaction between α2δ-1 (encoded by Cacna2d1), commonly known as a Ca2+ channel subunit, and NMDARs in the hypothalamus and its role in Ang II-..
  7. Bellessort B, Bachelot A, Grouthier V, De Lombares C, Narboux Nême N, Garagnani P, et al. Comparative analysis of molecular signatures suggests the use of gabapentin for the management of endometriosis-associated pain. J Pain Res. 2018;11:715-725 pubmed publisher
    ..channel complex, was strongly overexpressed both in mutant mouse uteri and in endometriosis implants, were also CACNA2D1 and CACNA2D2, other members of the α2δ family involved in nociception, are upregulated...
  8. Ruan J, Liu X, Xiong X, Zhang C, Li J, Zheng H, et al. miR‑107 promotes the erythroid differentiation of leukemia cells via the downregulation of Cacna2d1. Mol Med Rep. 2015;11:1334-9 pubmed publisher
    ..Further bioinformatics predicted that one target of miR‑107 may be Cacna2d1, a calcium channel protein...
  9. Liu X, Wang S, Xu J, Kou B, Chen D, Wang Y, et al. Extract of Stellerachamaejasme L(ESC) inhibits growth and metastasis of human hepatocellular carcinoma via regulating microRNA expression. BMC Complement Altern Med. 2018;18:99 pubmed publisher
    ..ESC downregulated the MCL1, SALL4 and BCL2 gene expressions significantly but did not influence the expression of CACNA2D1. The findings suggested ESC regressed growth and metastasis of human hepatocellular carcinoma via regulating ..
  10. Chen J, Li L, Chen S, Chen H, Xie J, Sirrieh R, et al. The α2δ-1-NMDA Receptor Complex Is Critically Involved in Neuropathic Pain Development and Gabapentin Therapeutic Actions. Cell Rep. 2018;22:2307-2321 pubmed publisher
    ..However, it is unclear how α2δ-1 contributes to neuropathic pain and gabapentinoid actions. Here, we show that Cacna2d1 overexpression potentiates presynaptic and postsynaptic NMDAR activity of spinal dorsal horn neurons to cause ..
  11. Han H, Du Y, Zhao W, Li S, Chen D, Zhang J, et al. PBX3 is targeted by multiple miRNAs and is essential for liver tumour-initiating cells. Nat Commun. 2015;6:8271 pubmed publisher
    ..essential transcriptional programme, activating the expression of genes critical for HCC TIC stemness including CACNA2D1, EpCAM, SOX2 and NOTCH3...
  12. Yu D, Holm R, Goscinski M, Trope C, Nesland J, Suo Z. Prognostic and clinicopathological significance of Cacna2d1 expression in epithelial ovarian cancers: a retrospective study. Am J Cancer Res. 2016;6:2088-2097 pubmed
    ..This project aimed to explore the correlation between the expression of potential CSC maker Cacna2d1 and clinicopathological parameters in 238 epithelial ovarian cancer (EOC) samples...
  13. Young E, Bryant C, Lee S, Peng X, Cook B, Nair H, et al. Systems genetic and pharmacological analysis identifies candidate genes underlying mechanosensation in the von Frey test. Genes Brain Behav. 2016;15:604-15 pubmed publisher
    ..candidate genes within the loci: von Frey thresholds were strongly correlated with baseline expression of Cacna2d1, Ift27 and Csnk1e in multiple brain regions of BXD strains...
  14. Azad A, Bairati I, Qiu X, Girgis H, Cheng L, Waggott D, et al. A genome-wide association study of non-HPV-related head and neck squamous cell carcinoma identifies prognostic genetic sequence variants in the MAP-kinase and hormone pathways. Cancer Epidemiol. 2016;42:173-80 pubmed publisher
    ..21 years (GWAS cohort) and 2.37 years (replication cohort). In both cohorts, CACNA2D1:rs2299187, ESRRG:rs946465 and ESRRG:rs1416612 were each individually significantly associated with survival...
  15. Raghunath A, Jeyabaskar D, Sundarraj K, Panneerselvam L, Perumal E. In silico prediction of microRNAs on fluoride induced sperm toxicity in mice. Food Chem Toxicol. 2016;98:34-49 pubmed publisher
    ..miR-7b-5p, miR-30e-5p, miR-17-5p, miR-122-5p and miR-541-5p) targeting six genes (Traf3, Rock2, Rgs8, Atp1b2, Cacna2d1 and Aldoa) were already validated experimentally in mice...
  16. Kawano T, Eguchi S, Iwata H, Yamanaka D, Tateiwa H, Locatelli F, et al. Pregabalin can prevent, but not treat, cognitive dysfunction following abdominal surgery in aged rats. Life Sci. 2016;148:211-9 pubmed publisher
    ..test, followed by measurement of hippocampal cytokines and voltage-dependent calcium channel α2δ subunit (CACNA2D1)...
  17. Bagheri M, Zahmatkesh A. Dominance effects estimation of TLR4 and CACNA2D1 genes for health and production traits using logistic regression. J Genet. 2017;96:1027-1031 pubmed
    ..The method that we used would help breeders in accurately estimation of genotypic values in a new genomic selection scenario including dominance effects. ..
  18. Mendus D, Rankin Gee E, Mustapha M, Porter B. Increased sensitivity to kindling in mice lacking TSP1. Neuroscience. 2015;305:302-8 pubmed publisher
    ..We observed decreased expression of voltage-dependent calcium channel subunit CACNA2D1 mRNA in TSP1, TSP2, and TSP1/2 KO mice...
  19. Simpson H, Khan R, Song C, Sharma D, Sadashivaiah K, Furusawa A, et al. Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma. PLoS ONE. 2015;10:e0141906 pubmed publisher
    ..of which contained mutations predicted significant by all 4 algorithms: ATM, RUNX1T1, WDR17, NTRK3, TP53, TRMT12, CACNA2D1, INTS8, and KCNH8...
  20. Thomas J, Hagen J, Soh D, Lee A. Molecular moieties masking Ca2+-dependent facilitation of voltage-gated Cav2.2 Ca2+ channels. J Gen Physiol. 2018;150:83-94 pubmed publisher
    ..Our results reveal a functional divergence in the CDF regulatory domains of Cav2 channels, which may help to diversify the modes by which Cav2.1 and Cav2.2 can modify synaptic transmission. ..
  21. Alvarez Laviada A, Kadurin I, Senatore A, Chiesa R, Dolphin A. The inhibition of functional expression of calcium channels by prion protein demonstrates competition with α2δ for GPI-anchoring pathways. Biochem J. 2014;458:365-74 pubmed publisher
    ..1/β1b/α2δ-1 currents were inhibited by GPI-GFP, but not cytosolic GFP, indicates that competition for limited GPI-anchor intermediates or trafficking pathways may be involved in PrP suppression of α2δ subunit function. ..
  22. Vergult S, Dheedene A, Meurs A, Faes F, Isidor B, Janssens S, et al. Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability. Eur J Hum Genet. 2015;23:628-32 pubmed publisher
    ..Here we report three patients with a genomic aberration affecting the CACNA2D1 gene encoding the ?2? subunit of these voltage-gated calcium channels...
  23. 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 ..
  24. 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
  25. 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. ..
  26. Li L, Chen H, Yin C, Yang C, Wang B, Zheng S, et al. Mapping breakpoints of a familial chromosome insertion (18,7) (q22.1; q36.2q21.11) to DPP6 and CACNA2D1 genes in an azoospermic male. Gene. 2014;547:43-9 pubmed publisher
    ..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 ..
  27. Ikeda M, Shimasaki A, Takahashi A, Kondo K, Saito T, Kawase K, et al. Genome-wide environment interaction between depressive state and stressful life events. J Clin Psychiatry. 2016;77:e29-30 pubmed publisher
  28. Mezler M, Barghorn S, Schoemaker H, Gross G, Nimmrich V. A ?-amyloid oligomer directly modulates P/Q-type calcium currents in Xenopus oocytes. Br J Pharmacol. 2012;165:1572-83 pubmed publisher
    ..Threshold reduction as well as an increase in current at synaptic terminals may facilitate vesicle release and could trigger excitotoxic events in the brains of patients with AD. ..
  29. Siddique A, Willoughby J, McNeill A. A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy. Am J Med Genet A. 2017;173:1128-1130 pubmed publisher
  30. Santolini I, Celli R, Cannella M, Imbriglio T, Guiducci M, Parisi P, et al. Alterations in the ?2 ? ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies. Epilepsia. 2017;58:1993-2001 pubmed publisher
    ..We examined the genetic variants of THBS1 and CACNA2D1 in two independent cohorts of patients affected by IGE/GGE recruited through the Genetic Commission of the ..
  31. 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
    ..performed, and CHO-K1 cells were cotransfected with cDNAs encoding wild-type or mutant CACNB2b (Ca(v beta2b)), CACNA2D1 (Ca(v alpha2delta1)), and CACNA1C tagged with enhanced yellow fluorescent protein (Ca(v)1.2)...
  32. Martínez Hernández E, González Ramírez R, Sandoval A, Cisneros B, Delgado Lezama R, Felix R. Isolation and characterization of the 5´-upstream region of the human voltage-gated Ca(2+) channel ? 2?-1 auxiliary subunit gene: promoter analysis and regulation by transcription factor Sp1. Pflugers Arch. 2013;465:819-28 pubmed publisher
    ..5 kb 5´-UTR fragment of the CACNA2D1 gene that produced high levels of luciferase activity...
  33. Quintero J, Dooley D, Pomerleau F, Huettl P, Gerhardt G. Amperometric measurement of glutamate release modulation by gabapentin and pregabalin in rat neocortical slices: role of voltage-sensitive Ca2+ ?2?-1 subunit. J Pharmacol Exp Ther. 2011;338:240-5 pubmed publisher
    ..The results show that GBP and PGB attenuated stimulus-evoked glutamate release in rodent neocortical slices and that the ?(2)?-1 subunit of VSCC appears to mediate this effect. ..
  34. Dubinsky M, Kugathasan S, Kwon S, Haritunians T, Wrobel I, Wahbeh G, et al. Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease. Inflamm Bowel Dis. 2013;19:1662-70 pubmed publisher
    ..Genome-wide association identified novel putative loci associated with early surgery: 7q21 (CACNA2D1) and 9q34 (RXRA, COL5A1)...
  35. Chaudhuri D, Issa J, Yue D. Elementary mechanisms producing facilitation of Cav2.1 (P/Q-type) channels. J Gen Physiol. 2007;129:385-401 pubmed
    ..This enhanced-opening mechanism suggests that the CDF evoked during action-potential trains would produce not only larger, but longer-lasting Ca(2+) responses, an outcome with potential ramifications for short-term synaptic plasticity. ..
  36. Haritunians T, Taylor K, Targan S, Dubinsky M, Ippoliti A, Kwon S, et al. Genetic predictors of medically refractory ulcerative colitis. Inflamm Bowel Dis. 2010;16:1830-40 pubmed publisher
    ..Furthermore, discovery of genetic processes underlying disease severity may help to identify pathways for novel therapeutic intervention in severe UC. ..
  37. 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. ..
  38. Chintalapudi S, Maria D, Di Wang X, Bailey J, Hysi P, Wiggs J, et al. Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility. Nat Commun. 2017;8:1755 pubmed publisher
    ..genetic and molecular mechanisms that regulate intraocular pressure, and identifies a new candidate gene, Cacna2d1, that modulates intraocular pressure and a promising therapeutic, pregabalin, which binds to CACNA2D1 protein and ..
  39. Ellis S, Williams M, Ways N, Brenner R, Sharp A, Leung A, et al. Sequence and expression of mRNAs encoding the alpha 1 and alpha 2 subunits of a DHP-sensitive calcium channel. Science. 1988;241:1661-4 pubmed
    ..Nucleic acid hybridization studies suggest that the alpha 1 and alpha 2 subunit mRNAs are expressed differentially in a tissue-specific manner and that there is a family of genes encoding additional calcium channel subtypes. ..
  40. Bourdin B, Shakeri B, Tétreault M, Sauvé R, Lesage S, Parent L. Functional characterization of CaVα2δ mutations associated with sudden cardiac death. J Biol Chem. 2015;290:2854-69 pubmed publisher
    ..The functional impact of genetic variants of CACNA2D1 (the gene encoding for CaVα2δ), associated with shorter repolarization QT intervals (the time interval ..
  41. Chalasani N, Guo X, Loomba R, Goodarzi M, Haritunians T, Kwon S, et al. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. Gastroenterology. 2010;139:1567-76, 1576.e1-6 pubmed publisher
    ..A GWAS significantly associated genetic variants with features of hepatic histology in patients with NAFLD. These findings should be validated in larger and more diverse cohorts. ..
  42. Thiel W, Chen B, Hund T, Koval O, Purohit A, Song L, et al. Proarrhythmic defects in Timothy syndrome require calmodulin kinase II. Circulation. 2008;118:2225-34 pubmed publisher
    ..In TS, the loss of voltage-dependent inactivation is an upstream initiating event for arrhythmia phenotypes that are ultimately dependent on CaMKII activation. ..
  43. Templin C, Ghadri J, Rougier J, Baumer A, Kaplan V, Albesa M, et al. Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J. 2011;32:1077-88 pubmed publisher
    ..no mutation in previously known SQTS genes; however, a new variant at a heterozygous state was identified in the CACNA2D1 gene (nucleotide c.2264G > C; amino acid p...
  44. Powers P, Scherer S, Tsui L, Gregg R, Hogan K. Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis. Genomics. 1994;19:192-3 pubmed
  45. Iles D, Lehmann Horn F, Scherer S, Tsui L, Olde Weghuis D, Suijkerbuijk R, et al. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet. 1994;3:969-75 pubmed
    ..we describe the cloning and partial DNA sequence analysis of the gene encoding the alpha 2/delta-subunits, CACNL2A, and its localization on the proximal long arm of chromosome 7q...
  46. Bauer C, Tran Van Minh A, Kadurin I, Dolphin A. A new look at calcium channel ?2? subunits. Curr Opin Neurobiol. 2010;20:563-71 pubmed publisher
    ..Furthermore, gabapentinoid drugs, which bind to ?(2)?-1 and ?(2)?-2, not only impair their trafficking, but also affect ?(2)?-1-dependent synaptogenesis. These drugs may interfere with ?(2)? function at several different levels. ..
  47. Calderón Rivera A, Andrade A, Hernandez Hernandez O, González Ramírez R, Sandoval A, Rivera M, et al. Identification of a disulfide bridge essential for structure and function of the voltage-gated Ca(2+) channel ?(2)?-1 auxiliary subunit. Cell Calcium. 2012;51:22-30 pubmed publisher
    ..2?(1)/?(3)) channels, showed decreased whole-cell patch-clamp currents indicating that the disulfide bond between these residues is required for ?(2)?-1 function. ..
  48. Rhodin A, Grönbladh A, Ginya H, Nilsson K, Rosenblad A, Zhou Q, et al. Combined analysis of circulating ?-endorphin with gene polymorphisms in OPRM1, CACNAD2 and ABCB1 reveals correlation with pain, opioid sensitivity and opioid-related side effects. Mol Brain. 2013;6:8 pubmed publisher
    ..Of particular interest is the new finding of a correlation between increased opioid sensitivity and the major CACNA2D2 allele. These observations may open for improved strategies in the clinical treatment of chronic pain with opioids. ..
  49. Cataldo S, Annoni G, Marziliano N. The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby. Cardiol Young. 2015;25:174-6 pubmed publisher
    ..The implant of a cardiac defibrillator allowed her to survive till heart transplant. Compound mutation of CACNA2D1 and RANGRF genes were found...