Citations for
1CACNA1C, ZNF804A
The effect of psychosis associated CACNA1C, and its epistasis with ZNF804A, on brain function.
Tecelão D, Mendes A, Martins D, Fu C, Chaddock CA, Picchioni MM, McDonald C, Kalidindi S, Murray R, Prata DP.
Genes Brain Behav 18(4):e12510. doi: 10.1111/gbb.12510. Epub 2018 Sep 10. 2019
2CACNA1C, HAP1
Regulation of L-type Ca2+ Channel activity and insulin secretion by Huntingtin-associated protein 1.
Pan JY, Yuan S, Yu T, Su CL, Liu XL, He J, Li H.
J Biol Chem Biol Chem. 2016 Sep 13. pii: jbc.M116.727990. [Epub ahead of print] 2016
3CACNA1C, NFATC4
NFATc4 and myocardin synergistically up-regulate the expression of LTCC α1C in ET-1-induced cardiomyocyte hypertrophy.
Li M, He HP, Gong HQ, Zhang J, Ma WJ, Zhou H, Cao DS, Wang N, Zhang TC.
Life Sci 155:11-20. doi: 10.1016/j.lfs.2016.05.007. Epub 2016 May 4. 2016
4CACNA1C, MRPL21, VIPR2
Identification of genomic biomarkers associated with the clinicopathological parameters and prognosis of esophageal squamous cell carcinoma.
Shi ZZ, Shang L, Jiang YY, Shi F, Xu X, Wang MR, Hao JJ.
Cancer Biomark 15(6):755-61. doi: 10.3233/CBM-150517. 2015
5ADRA1B, CACNA1C, PLD1
Phospholipase D1 is involved in α1-adrenergic contraction of murine vascular smooth muscle.
Wegener JW, Loga F, Stegner D, Nieswandt B, Hofmann F.
FASEB J 28(3):1044-8. doi: 10.1096/fj.13-237925. Epub 2013 Nov 19. 2014
6CACNA1C, NR1D1
A specific role for the REV-ERBα-controlled L-Type Voltage-Gated Calcium Channel CaV1.2 in resetting the circadian clock in the late night.
Schmutz I, Chavan R, Ripperger JA, Maywood ES, Langwieser N, Jurik A, Stauffer A, Delorme JE, Moosmang S, Hastings MH, Hofmann F, Albrecht U.
J Biol Rhythms 29(4):288-98. doi: 10.1177/0748730414540453. 2014
7CACNA1C, TMTS
A CACNA1C Mutation that Causes a Subset of Timothy Syndrome Phenotypes Correlates.
Hennessey JA, Jiang Y, Miller JD, Stadt HA, Patrick W, Pfeiffer R, Antzelevitch C, Kanter R, Pitt GS.
Heart Rhythm 10(11):1745. doi: 10.1016/j.hrthm.2013.09.026. Epub 2013 Oct 24. 2013
8CACNA1C
State-dependent signaling by Cav1.2 regulates hair follicle stem cell function.
Yucel G, Altindag B, Gomez-Ospina N, Rana A, Panagiotakos G, Lara MF, Dolmetsch R, Oro AE.
Genes Dev 27(11):1217-22. doi: 10.1101/gad.216556.113. 2013
9BRGS3, CACNA1C
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ.
Circ Cardiovasc Genet 6(3):279-89. 2013
10CACNA1C
Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development.
Ramachandran KV, Hennessey JA, Barnett AS, Yin X, Stadt HA, Foster E, Shah RA, Yazawa M, Dolmetsch RE, Kirby ML, Pitt GS.
J Clin Invest 123(4):1638-46. doi: 10.1172/JCI66903. Epub 2013 Mar 15. 2013
11CACNA1C
Neuronal cell-type specific DNA methylation patterns of the Cacna1c gene.
Nishioka M, Shimada T, Bundo M, Ukai W, Hashimoto E, Saito T, Kano Y, Sasaki T, Kasai K, Kato T, Iwamoto K.
Int J Dev Neurosci 31(2):89-95. doi: 10.1016/j.ijdevneu.2012.11.007. Epub 2012 Nov 23. 2013
12CACNA1C, LDB3
Cypher/ZASP is a novel A-kinase anchoring protein.
Lin C, Guo X, Lange S, Liu J, Ouyang K, Yin X, Jiang L, Cai Y, Mu Y, Sheikh F, Ye S, Chen J, Ke Y, Cheng H.
J Biol Chem 288(41):29403-13. doi: 10.1074/jbc.M113.470708. Epub 2013 Aug 31. 2013
13CACNA1C
CACNA1C (Cav1.2) in the pathophysiology of psychiatric disease.
Bhat S, Dao DT, Terrillion CE, Arad M, Smith RJ, Soldatov NM, Gould TD.
Prog Neurobiol 99(1):1-14. doi: 10.1016/j.pneurobio.2012.06.001. Epub 2012 Jun 15. Review. 2012
14CABP1, CACNA1C
CaBP1 regulates voltage-dependent inactivation and activation of Ca(V)1.2 (L-type) calcium channels.
Oz S, Tsemakhovich V, Christel CJ, Lee A, Dascal N.
J Biol Chem 286(16):13945-53. Epub 2011 Mar 7. 2011
15CACNA1C, PRKD1
Protein kinase D regulates the human cardiac L-type voltage-gated calcium channel through serine 1884.
Aita Y, Kurebayashi N, Hirose S, Maturana AD.
FEBS Lett 585(24):3903-6. doi: 10.1016/j.febslet.2011.11.011. Epub 2011 Nov 16. 2011
16CACNA1C
The association of genetic variation in CACNA1C with structure and function of a frontotemporal system.
Wang F, McIntosh AM, He Y, Gelernter J, Blumberg HP.
Bipolar Disord 13(7-8):696-700. doi: 10.1111/j.1399-5618.2011.00963.x. 2011
17CACNA1C, TMTS
Restoration of normal L-type Ca2+ channel function during Timothy syndrome by ablation of an anchoring protein.
Cheng EP, Yuan C, Navedo MF, Dixon RE, Nieves-Cintrón M, Scott JD, Santana LF.
Circ Res 109(3):255-61. doi: 10.1161/CIRCRESAHA.111.248252. Epub 2011 Jun 23. 2011
18AKAP7, CACNA1C
Functional roles of a C-terminal signaling complex of CaV1 channels and A-kinase anchoring protein 15 in brain neurons.
Marshall MR, Clark JP 3rd, Westenbroek R, Yu FH, Scheuer T, Catterall WA.
J Biol Chem 286(14):12627-39. doi: 10.1074/jbc.M110.175257. Epub 2011 Jan 11. 2011
19CACNA1C
Deletion of the distal C terminus of CaV1.2 channels leads to loss of beta-adrenergic regulation and heart failure in vivo.
Fu Y, Westenbroek RE, Yu FH, Clark JP 3rd, Marshall MR, Scheuer T, Catterall WA.
J Biol Chem 286(14):12617-26. doi: 10.1074/jbc.M110.175307. Epub 2011 Jan 7. 2011
20CABP1, CACNA1C
Structural basis for the differential effects of CaBP1 and calmodulin on Ca(V)1.2 calcium-dependent inactivation.
Findeisen F, Minor DL Jr.
Structure 18(12):1617-31. 2010
21BIN1, CACNA1C
BIN1 localizes the L-type calcium channel to cardiac T-tubules.
Hong TT, Smyth JW, Gao D, Chu KY, Vogan JM, Fong TS, Jensen BC, Colecraft HM, Shaw RM.
PLoS Biol 8(2):e1000312. doi: 10.1371/journal.pbio.1000312. 2010
22ANK3, ANKRD32, CACNA1C, DGKH, ITIH1, ITIH3, MCTP1
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
Scott LJ, Muglia P, Kong XQ, Guan W, Flickinger M, Upmanyu R, Tozzi F, Li JZ, Burmeister M, Absher D, Thompson RC, Francks C, Meng F, Antoniades A, Southwick AM, Schatzberg AF, Bunney WE, Barchas JD, Jones EG, Day R, Matthews K, McGuffin P, Strauss JS, Kennedy JL, Middleton L, Roses AD, Watson SJ, Vincent JB, Myers RM, Farmer AE, Akil H, Burns DK, Boehnke M.
Proc Natl Acad Sci U S A 106(18):7501-6. Epub 2009 Apr 28. 2009
23BRGS1, BRGS10, BRGS2, BRGS3, BRGS4, BRGS5, BRGS6, BRGS7, BRGS9, CACN2B, CACNA1C, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A
The genetic basis of Brugada syndrome: a mutation update.
Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M.
Hum Mutat 30(9):1256-66. Review.PMID: 19606473 2009
24ANK3, CACNA1C
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
Ferreira MA, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L, Fan J, Kirov G, Perlis RH, Green EK, Smoller JW, Grozeva D, Stone J, Nikolov I, Chambert K, Hamshere ML, Nimgaonkar VL, Moskvina V, Thase ME, Caesar S, Sachs GS, Franklin J, Gordon-Smith K, Ardlie KG, Gabriel SB, Fraser C, Blumenstiel B, Defelice M, Breen G, Gill M, Morris DW, Elkin A, Muir WJ, McGhee KA, Williamson R, Macintyre DJ, Maclean AW, St Clair D, Robinson M, Van Beck M, Pereira AC, Kandaswamy R, McQuillin A, Collier DA, Bass NJ, Young AH, Lawrence J, Nicol Ferrier I, Anjorin A, Farmer A, Curtis D, Scolnick EM, McGuffin P, Daly MJ, Corvin AP, Holmans PA, Blackwood DH; Wellcome Trust Case Control Consortium, Gurling HM, Owen MJ, Purcell SM, Sklar P, Craddock N.
Nat Genet at Genet. 2008 Aug 17. [Epub ahead of print] 2008
25CACNA1C
Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk.
Moskvina V, Craddock N, Holmans P, Nikolov I, Pahwa JS, Green E; Wellcome Trust Case Control Consortium3, Owen MJ, O'Donovan MC.
Mol Psychiatry ol Psychiatry. 2008 Dec 9. [Epub ahead of print] 2008
26CACNA1C, CAST
Calpastatin binds to a calmodulin-binding site of cardiac Cav1.2 Ca2+ channels.
Saud ZA, Minobe E, Wang WY, Han DY, Horiuchi M, Hao LY, Kameyama M.
Biochem Biophys Res Commun 364(2):372-7. Epub 2007 Oct 15. 2007
27CACNA1C
COOH-terminal association of human smooth muscle calcium channel Ca(v)1.2b with Src kinase protein binding domains: effect of nitrotyrosylation.
Kang M, Ross GR, Akbarali HI.
Am J Physiol Cell Physiol 293(6):C1983-90. Epub 2007 Oct 17. 2007
28CACNA1C
Molecular requirements for L-type Ca2+ channel blockade by testosterone.
Scragg JL, Dallas ML, Peers C.
Cell Calcium 42(1):11-5. Epub 2006 Dec 14. 2007
29CACNA1C, TMTS
Calmodulin kinase II is involved in voltage-dependent facilitation of the L-type Cav1.2 calcium channel: Identification of the phosphorylation sites.
Lee TS, Karl R, Moosmang S, Lenhardt P, Klugbauer N, Hofmann F, Kleppisch T, Welling A.
J Biol Chem 281(35):25560-7. Epub 2006 Jul 4. 2006
30CACNA1C, TMTS
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT.
Proc Natl Acad Sci U S A 102(23):8089-96; discussion 8086-8. Epub 2005 Apr 29. 2005
31TMTS, CACNA1C
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT.
Cell 119(1):19-31. 2004
32CACNA1C
L-type Ca2+ channels provide a major pathway for iron entry into cardiomyocytes in iron-overload cardiomyopathy.
Oudit GY, Sun H, Trivieri MG, Koch SE, Dawood F, Ackerley C, Yazdanpanah M, Wilson GJ, Schwartz A, Liu PP, Backx PH.
Nat Med 9(9):1187-94. Epub 2003 Aug 24. 2003
33CACNA1C
Characterization of auto-regulation of the human cardiac alpha1 subunit of the L-type calcium channel: importance of the C-terminus.
Mikala G, Bodi I, Klockner U, Varadi M, Varadi G, Koch SE, Schwartz A.
Mol Cell Biochem 250(1-2):81-9. 2003
34CACNA1C
A new promoter for alpha1C subunit of human L-type cardiac calcium channel Ca(V)1.2.
Dai B, Saada N, Echetebu C, Dettbarn C, Palade P.
Biochem Biophys Res Commun 296(2):429-33. 2002
35CACNA1C
Repetitive exon 45/46-related sequences of human Ca2+ channel alpha 1C subunit gene.
Soldatov NM, et al.
Hum Hered 48 : 241-244. 1998
36CACNA1C
Genomic structure of human L-type Ca2+ channel.
Soldatov NM.
Genomics 22 : 77-87. 1994
37CACNA1C
Cloning, chromosomal localization, and functional expression of the alpha1 subunit of the L-type voltage-dependent calcium channel from normal human heart.
Schultz D, et al.
Proc Natl Acad Sci U S A 90 : 6228-6232. 1993
38CACNA1C
Linkage mapping of the human gene for the alpha1 subunit of the cardiac DHP-sensitive Ca2+ channel(CACNL1A1) to chromosome 12p13.2-pter using a dinucleotide repeat.
Powers PA, et al.
Genomics 14 : 206-207. 1992
39CACNA1C
Mapping of a human brain voltage-gated calcium channel to human chromosome 12p13-pter.
Sun W, et al.
Genomics 14 : 1092-1094. 1992
40CACNA1C
Assignment of the human gene for the alpha1 subunit of the cardiac DHP-sensitive Ca2+ channel (CCHL1A1) to chromosome 12p12-ter.
Powers PA, et al.
Genomics 10 : 835-839. 1991