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NCBI Gene PubMed Count 239
PubMed Score 489.25
PubTator Score 422.68

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Patent (8,673)


  Disease (7)


Protein-protein Interaction (1)

MLP Assay (10)

AID Type Active / Inconclusive / Inactive Description
686924 other 0 / 0 / 1 ML347 Eurofin Panel Assay for BMP Inhibitor (Probe Compound)
686925 other 0 / 0 / 1 ML352 Eurofin Panel Assay for Choline Transporter Inhibitor (Probe Compound)
686926 other 0 / 0 / 1 ML354 Eurofin Panel Assay for PAR4 Antagonists Inhibitor (Probe Compound)
686927 other 0 / 0 / 1 ML353 Eurofin Panel Assay for mGlu5 SAM Inhibitor (Probe Compound)
743249 screening 1 / 0 / 0 Development of the First Potent, Selective and CNS penetrant M5 Negative Allosteric Modulator (NAM)
743250 screening 1 / 0 / 0 Discovery and characterization of a small molecule allosteric agonists of mas-related G-Protein coupled receptor X1 ( MrgX1)
743251 screening 1 / 0 / 0 Development of a novel orthosteric Muscarinic 5 (M5) antagonist possessing a hig degree of muscarinic subtype selectivity
743252 screening 1 / 0 / 0 Development of the first CNS penetrant Muscarinic 5 (M5) Positive Allosteric Modulator based on a novel non-isatin core
743435 other 0 / 0 / 0 Development of inhibitors for Dopamine D4 Receptors: Eurofin Panel Assay Results
743437 other 0 / 0 / 0 Development of inhibitors for PLD2 (Eurofin Panel Assay Results)

Gene RIF (202)

27124316 SNPs associated with diabetic cataract
26611642 CACNA1C risk variant affects facial emotion recognition in healthy individuals.
26553695 This integrative genomic study confirmed the role of RUNX2 as a potential driver of AS and identified a new AS susceptibility gene, CACNA1C, belonging to the calcium signaling pathway.
26541689 The linking variation in the CACNA1C gene is a neurochemical marker of neuroaxonal plasticity in those with bipolar disorder.
26525885 Single nucleotide polymorphism in an intron of the CACNA1C gene conveyed an increased risk for developing Bipolar disorder.
26509803 Study suggests initial support for a link between bipolar disorder risk SNPs rs472913 (1p32.1) and rs1006737 (CACNA1C) and brain arousal regulation
26507659 the consensus motifs of S-nitrosylation were much more abundant in Cav2.2 than in Cav1.2 and Cav2.1.
26476274 CACNA1C modulates the cellular rhythm amplitude response to lithium, providing a specific link between LTCCs and circadian rhythms in the context of Bipolar disorder and lithium
26475575 The associations of CACNA1C rs10774035 with outcome in schizophrenia-spectrum and non-association with outcome in bipolar disorders
26406417 Copy number increase of CACNA1C are associated with esophageal squamous cell carcinoma.
26401721 Findings indicate that CACNA1C-related differences in amygdala structure and function are present by adolescence.
26276307 Meta-analysis associated CACNA1C single nucleotide polymorphisms with schizophrenia family samples
26253506 We identify novel CACNA1C missense mutation with mixed loss-of-function/gain-of-function responsible for a complex phenotype of LQTS, HCM, sudden cardiac death, and congenital heart defects.
26227746 we investigated the association of CACNA1C and ANK3 with SZ using meta-analytic techniques.
26216687 Study revealed no association between the 15 tagSNPs of CACNA1A, 1C, and 1H and antiepileptic drug efficacy in the Chinese Han epileptic population; the TAGAA haplotype of CACNA1A may be a risk factor for drug resistance
26204268 CACNA1C might play a role in the genetic etiology of autism in Chinese Han population.
26100638 A polybasic plasma membrane binding motif in the I-II linker stabilizes voltage-gated CaV1.2 calcium channel function.
26049408 Findings support a role for the CACNA1C gene, particularly for the rs1006737, in schizophrenia.
26049024 In overall, we provide evidence that Cav1.2 and Cav1.3 isoforms are capable of potentially functioning as zinc permeation routes, through which zinc entry can be differentially augmented by mild acidifications.
25918994 The CACNA1C gene was variably methylated in monozygotic twins discordant for depressive disorder.
25841664 findings provide phenotypic detail of the CACNA1C AA genotype in non-symptomatic individuals, which suggest primary effects in emotional circuitry, consistent with previously documented alterations in hippocampal/amygdala processing.
25633834 genotype-negative LQTS patients should be investigated for mutations in CACNA1C, as a gain-of-function in Cav1.2 is likely to cause LQTS and only specific and rare mutations, i.e. in exon 8, cause the multi-systemic TS.
25588813 results revealed a significant association between rs1006737 and schizophrenia (allelic model, P = 4.39 x 10(-6) , pooled odds ratio [OR] = 1.20)
25470093 CACNA1C risk variant rs1006737 affects cortical white matter integrity in schizophrenia.
25403839 This study showed that the risk rs1006737 genotype (AA) is correlated with increased levels of CACNA1C mRNA as compared with the non-risk or heterozygous (GG, GA) genotypes in induced human neuron.
25341504 It is likely that the familial CACNA1C loss-of-function mutation contributes to Brugada syndrome phenotype and shorter QTc interval while the SCN5A mutation is associated with severe cardiac conduction defects.
25290268 Genome-wide association studies (GWAS) have repeatedly identified a risk variant in the CACNA1C gene, which encodes an L-type voltage-gated calcium channel (alpha 1C subunit).
25184293 the combined effects of the CACNA1C variant to diminish voltage-dependent inactivation of CaV1.2 and increase window current expand our appreciation of mechanisms by which a gain of function of CaV1.2 can contribute to QT prolongation
25107449 Chronic atrial fibrillation increases miR-21 expression in human atrial myocytes and decreases I(Ca,L) density by downregulating CACNA1C/CACNB2 expression.
24996399 Article summarises the latest findings and specify the roles of Cav1.2 and Cav1.3 in neurological and psychiatric diseases.Individually, CACNA1C polymorphisms and CACNA1D variants have been linked to a variety of psychiatric diseases and to congenital deafness, respectively. [Review]
24941892 Cp8 is a new of Cav1.2 and Cav1.3 channel activators.
24816216 Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.
24728418 In patients with LQTS, the frequency of CACNA1C mutations was higher than reported.
24716743 This study found that the CACNA1C intron 3 variant, rs79398153, potentially affecting an ENCyclopedia of DNA Elements (ENCODE)-defined region, showed an association with Bipolar disorder.
24643163 PCLO and CACNA1C depression risk alleles jointly affect memory-related subgenual cingulate activity.
24642287 Our findings suggest that altered hippocampal and frontolimbic function is associated with variants in the CACNA1C gene.
24612926 The current data provide further evidence for an impact of rs1006737 on the left IFG and demonstrate that genetic variation in CACNA1C modulates neural responses in patients with major depression.
24411473 Implicate abnormal perigenual and hippocampal activation as an intermediate phenotype for psychiatric disease. Suggest mechanism conferred by a CACNA1C variant implicated in risk for symptoms shared psychiatric disorders.
24365142 Protein kinase C-dependent activation of CaV1.2 channels selectively controls human TH2-lymphocyte functions.
24355530 The results of this study provided further support for associations of rs1006737 and rs1024582 with schizophrenia, identify a new risk locus rs2007044 in a Han Chinese population.
24275578 The rs1006737 and rs4765905 markers in CACNA1C, significant differences in the allele frequencies were found between the patients and controls in Han Chinese.
24269271 Genetic variation in the CACNA1C SNP rs1006737 is associated with fractional anisotropy reduction in the hippocampal formation as well as with differences in learning performance in healthy individuals.
24262814 Our findings support CACNA1C being a risk gene for both schizophrenia and major depressive disorder in the Han Chinese population.
24240197 This study shows for the first time that functional characterization of omega pore currents is possible using a cultured cell line expressing mutant Ca(v)1.1 channels.
24108394 CACNA1C SNP is associated with brain connectivity changes in bipolar disorder.
24026422 a genetic interaction between the RYR3 and CACNA1C genes explained variance in amyloid deposition above and beyond other major known risk factors for late-onset Alzheimer's disease
23979604 the CACNA1C perturbations in the presence of Bipolar Disorder in this patient and in patients with the common CACNA1C SNP risk allele, we would propose that either increase or decrease in calcium influx in excitable cells can be associated with BD.
23973784 Mouse Rad Q65P (the murine equivalent of human Rad Q66P) inhibits L-type currents conducted by CaV1.2 or CaV1.3 channels as potently as wild-type Rad (>95% inhibition of both channels).
23948887 The resukts of this study indicated that the expression of CaV1.2 alpha1-subunits in reactive astrocytes in the tg Alzheimer's disease mouse model is related to the increased amyloid-beta load in the plaques.
23948586 CaV1.2 mediates Ca2+ entry into cardiomyocytes. beta-Adrenergic receptor activation increases this & is responsible for the positive ionotropic effect of adrenergic stimulation. The molecular mechanism of this has not been fully resolved. Review.
23900723 No association of CACNA1C polymorphisms with schizophrenia was found in Han Chinese.
23880959 This study suggested that CACNA1C genotype may account for some heterogeneity in the effects of hemisphere and diagnosis on amygdala volume when comparing patients with SZ and controls.
23860750 The results strengthen findings that rs1006737 of CACNA1C is associated with neural systems related to memory processes in hippocampal regions which are detectable in healthy subjects.
23804206 Ca2+ sparklet activity is promoted by the action of c-Src on tyrosine2122 residue of the Cav1.2c COOH terminus.
23771339 The results of this study finding of increased Ca(V)1.3 subtype expression in the cerebral cortex of early stage Parkinson's disease.
23733657 More than one CaM molecule could bind to the CaV1.2 C-terminal tail.
23680436 findings support a potential association of CACNA1C as a genetic risk factor for BD susceptibility
23677916 Pro857Arg mutations in CACNA1C is linked to autosomal dominant long QT syndrome.
23575362 We identified 6 CACNA1C mutations in BrS and IVF patients and their phenotypes were varied.
23557075 In the case of the beta2AR, this process is facilitated by the presence of A-Kinase Anchoring Proteins (AKAPs) that serve as scaffolding proteins for the L-type calcium channel and the beta2AR complex.
23437964 The results of this study provided evidence that CACNA1C is associated with bipolar disorder and provides the first evidence that variations in this gene might play a role in the pathogenesis of this disorder in the Latino population.
23437284 the current findings provide evidence that the CACNA1C SNP rs1006737 is associated with increased amygdala activity across different diagnostic groups.
23406546 The CACNA1C risk allele is likely associated with executive dysfunction as a trait in bipolar disorder.
23404764 Results indicate that alterations in functional coupling between prefrontal cortex and medial temporal lobe could represent neural system phenotype mediated by CACNA1C rs1006737 and other genetic susceptibility loci for schizophrenia and bipolar disorder
22990809 Perturbation of the I-II linker helical structure might provide a mechanistic explanation for a Timothy syndrome mutant's (human Ca(V)1.2 G406R equivalent) biophysical effects on inactivation and activation.
22985546 this study demonitrated that CACNA1C( rs1006737 ) as a risk factor for schizotypal personality disorder.
22957138 CACNA1C may be involved in the pathophysiology of schizophrenia, at least in part by influencing verbal memory function.
22914618 Patients with bipolar disorder showed a negative effect of the CACNA1C risk allele rs1006737 on a composite cognitive measure.
22705413 [Review] discusses genetic structure and variation of CACNA1C, relevant human genetic and clinical findings, as well as the biological actions of Cav1.2 that are most relevant to psychiatric illness.
22665259 The results of the present cohort support the hypothesis of a sex-specific influence of the SNP rs1006737 within CACNA1C on traits associated with emotional lability and resilience in the general population
22647524 The findings of this study do not support a strong genetic link between bipolar disorder and major depressive disorder for CACNA1C genes.
22614292 This study showed that impact of CACNA1C allelic variation on effective connectivity during emotional processing in bipolar disorder.
22614287 study demonistrated that Genome-wide significant associations in schizophrenia to CACNA1C and extensive replication of associations reported by the Schizophrenia.
22590648 new mechanistic perspectives, and reveal unexpected variations in determinants, underlying inhibition of Ca(V)1.2/Ca(V)2.2 channels by distinct RGK GTPases.
22490625 Essential hypertention patients with wild genotype of rs2299661 and rs216008 in CACNA1C are more likely to be responders of calcium channel blocker monotherapy.
22464935 CACNA1C risk allele for bipolar disorder(BD) was associated with facial emotion recognition impairment in BD but not in controls.CACNA1C genotype did not impact amygdala or hippocampus volume in BD or controls.
22261054 HEK293alpha(1C) cells expressing the Ca(V)1.2 subunit were transiently transfected with Ca(V)alpha(2)delta1 alone or with Ca(V)beta(1a), Ca(V)beta(2b)showed increased whole-cell current and shifted the voltage dependence of activation and inactivation to hyperpolarization.
22100296 serine 1884 is essential for the regulation of hCaV1.2 by PKD
22085483 This study suggested that influence of CACNA1C variation on corticolimbic structure and function may be a mechanism contributing to the neural circuitry of BD.
22012475 tested the association between the CACNA1C gene polymorphism rs1006737 and spatial working memory. Among schizophrenia patients and controls, (but not patients with bipolar disorder) the clinical risk allele was associated with impaired working memory
21998324 Gal-1 regulates I(Ca,L) by decreasing the surface expression of Ca(V)1.2 channels in a splice variant selective manner. This may modulate vasoconstriction. Gal-1 binds the I-II loop only in the absence of alternatively spliced exon 9*.
21931320 The results of ths study suggested CACNA1C associated with schizophrenia.
21926972 A combined GWAS analysis of schizophrenia and bipolar disorder yielded strong association evidence for Single Nucleotide Polymorphism in CACNA1C.
21810465 is glutathionylated during oxidative stress in ischemic heart
21788606 Data showed expression of L-type (Ca(v) 1.2), P/Q-type (Ca(v) 2.1), and T-type subtype (Ca(v) 3.1 and Ca(v) 3.2) voltage-gated calcium channels (Ca(v)s) in renal artery and dissected intrarenal blood vessels from nephrectomies.
21767209 association of SNP rs1006737 with bipolar disorders and psychosis subphenotype
21712653 Calmodulin overexpression does not alter Cav1.2 function or oligomerization state.
21685391 Mutations of Gly-432 of Ca(V)1.2 protein removed inactivation irrespective of the changes in activation.
21676128 This study demonistreated that the CACNA1C genotype was associated with proneness to anxiety and negative mood.
21665954 Facilitation and Ca2+-dependent inactivation are modified by mutation of the Ca(v)1.2 channel IQ motif.
21664226 Timothy syndrome mutations in CaV1.2 channels, display non-inactivating calcium current as well as higher plasma membrane expression of CaV1.2. [review]
21521762 Following deletion of both Cav1.2 alleles in transgenic mice, results are consistent with an L-type calcium channel biosynthesis model in which one or more saturated steps act to buffer changes in both total Cav1.2 protein and L-type current expression.
21519340 In the 1st formal evidence of a disease-specific CACNA1C genotype effect on brain function, the rs1006737 polymorphism impacts vlPFC activation during fear processing in bipolar disorder carriers of this allele but not their unaffected relatives.
21487241 comparison of human dihydropyridine binding residues with a less sensitive invertebrate L-type calcium channel (LCa v 1)
21395576 we did not find evidence for association between the bipolar disorder risk polymorphisms rs10994336 in the ANK3 gene and rs1006737 in the CACNA1C gene in migraine
21352396 Overexpression of Cav1.2 rescues electrocardiographic abnormalities, whereas deletion of Cav1.3 exacerbates the abnormalities in congenital heart block.
21292451 The CACNA1C rs1006737 polymorphism influences anatomical variation within subcortical regions involved in emotional processing.
21282112 Regulation of the mutually exclusive exons 8a and 8 in the CaV1.2 calcium channel transcript by polypyrimidine tract-binding protein.
21134641 Structural basis for the differential effects of CaBP1 and calmodulin on Ca(V)1.2 calcium-dependent inactivation.
21098446 Cardiac L-type calcium channel alpha1c subunit is a potential target for microRNA-328 in transgenic mice.
21078228 Studies found the A allele of the variant rs1006737 in the alpha 1C subunit of the L-type voltage-gated calcium channel (CACNA1C) gene to be over-represented in patients with psychosis.
21078228 Observational study of gene-disease association. (HuGE Navigator)
21057379 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
21042317 This study support for the bipolar disorder risk variant SNP rs1006737 in CACNA1C.
21042317 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
20953164 Presented is the crystal structure of an in vivo produced Ca2+/calmodulin-CaV1.2 PreIQ-IQ domain complex.
20924598 identified physicochemical properties in the analysed gating-sensitive positions (accessible surface area, side-chain flexibility, and hydrophobicity) predict the shifts of the activation curves of Ca(V)1.2.
20819988 Observational study of gene-disease association. (HuGE Navigator)
20817017 CACNA1C is a novel early repolarization syndrome susceptibility gene.
20817017 Observational study of gene-disease association. (HuGE Navigator)
20723887 Our preclinical results support a role for CACNA1C inmooddisorder pathophysiology, and the combination of human genetic and preclinical data support an interaction between sex and genotype.
20723887 Observational study of gene-disease association. (HuGE Navigator)
20719785 Suggest that atrial fibrillation is not associated with loss-of-function mutation of Cacna1c.
20679588 Observational study of gene-disease association. (HuGE Navigator)
20677014 Statistical analysis indicated that six genes, NFATC2, SCP2, CACNA1C, TCRA, POLE, and FAM3D, were associated with narcolepsy.
20677014 Observational study of gene-disease association. (HuGE Navigator)
20638048 Genetic variation in the pleiotropic psychiatric disease gene CACNA1C is associated with brainstem volume.
20638048 Observational study of gene-disease association. (HuGE Navigator)
20636642 there is genetic variation local to CACNA1C gene affecting its expression, but that this variation is not responsible for increasing risk of bipolar disorder
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20424473 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20371314 Phospholemman modulates the gating of cardiac L-type calcium channels
20351721 In comparison with GG homozygotes, carriers of the CACNA1C risk allele (AA/AG) showed an enhanced BOLD response in the right amygdala to monetary reward. This effect was also observed when comparing the AA, AG and GG groups, suggesting a gene-dose effect
20351715 This analysis provides support for a role of CACNA1C risk variants for both bipolar and unipolar major mood disorders.
20351715 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20226536 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20169111 Knockdown of BIN1 reduces surface Cav1.2 and delays development of the calcium transient, indicating that Cav1.2 targeting to BIN1 is functionally important to cardiac calcium signaling.
20098439 This study showed the CACNA1C (rs1006737) is associated with schizophrenia.
20066046 results suggest that changes in intracellular anion concentration can produce significant effects on CaV1.2 currents mediated by changes in channel open probability involving beta subunit interactions with the N terminus and a short C terminal region
20031608 Variation in CACNA1C is associated with treatment response among hypertensive patients with stable coronary artery disease.
20031608 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19952088 report of the potential effect of the rs1006737 polymorphism (or a functional variant in linkage disequilibrium with it) on cerebral volumes in healthy individuals
19916019 linkage of CaV1.2 channel polymorphism with bipolar disorder, depression, and schizophrenia. Alternative splicing modulates CaV1.2 channelopathy and the role of CaV1.2 channel in both excitable and non-excitable tissues[review]
19913121 Observational study of gene-disease association. (HuGE Navigator)
19781653 The rs1006737 variant of CACNA1C does influence language production on a semantic level in conjunction with the underlying neural systems.
19781653 Observational study of gene-disease association. (HuGE Navigator)
19717733 Ca(v)1.2 splice variant with exon 9* is critical for regulation of cerebral artery diameter.
19687230 Structural changes induced by mutation A780P may disturb the voltage-sensing domain.
19625771 the L-type channel is the major route of Ca(2+) entry in response to repetitive or prolonged depolarization of skeletal muscle
19621016 We found that the risk allele conferred increased risk for schizophrenia (P=0.034) and recurrent major depression (P=0.013) with similar effect sizes to those previously observed in BD (allelic odds ratio approximately 1.15)
19621016 Observational study of gene-disease association. (HuGE Navigator)
19620129 Cardiac overexpression of a Ca(2+)-channel beta(2a)-subunit alone is sufficient to induce Ca(2+)-channel properties characteristic of chronic human heart failure.
19520970 L-type calcium channel blockers exert an antiinflammatory effect by suppressing expression of plasminogen receptors on macrophages.
19492014 The structural organization of Ca(v)1.2 channels in the plasma membrane depends on the type of Ca(v)beta subunits present.
19388002 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19351867 Overexpression of the intracellular II-III loop domains of Cav1.2 and Cav1.3 can dislodge the corresponding endogenous channels from the lipid raft regions of the membrane in rat insulinoma (INS-1) cells.
19279214 Ca(V)1.2 channels are shown to be a mixture of monomers/dimers and a point mutation in the pre-IQ region predicted to abolish the coiled-coil structure significantly reduces Ca(2+)-dependent inactivation of heterologously expressed Ca(V)1.2 channels
19265197 Coupled and independent contributions of residues in IS6 and IIS6 to activation gating of CaV1.2.
19225208 Three SNPs in CACNA1D or CACNA1C are genetic polymorphisms conferring sensitivity to the antihypertensive effects of L-type dCCBs in patients with hypertension.
19225208 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19215628 We identified a group of markers occurring within the CACNA1C gene (encoding the alpha subunit of the calcium channel Cav1.2).
19205682 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19106618 Report functional properties of the CaV1.2 calcium channel activated by calmodulin in the absence of alpha2delta subunits.
19065143 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18927079 activation of the RyR1 signaling cascade by Ca(v)1.2 may be important in the early stages of infection, providing the immune system with a rapid mechanism to initiate an early response
18836301 mutations in the lower part of IIS6 may affect conformations of interacting segments.
18711365 found further support for the previously reported CACNA1C (alpha 1C subunit of the L-type voltage-gated calcium channel in bipolar disorder
18711365 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18675806 Cav1.2 is subject to "denitration".
18618671 Observational study of gene-disease association. (HuGE Navigator)
18603601 Sorcin modulates cardiac L-type Ca2+ current by functional interaction with the alpha1C subunit in rabbits.
18596041 CO, a product of heme catabolism by HO-1, directly inhibits alpha1C subunit of the cardiac L-type Ca2+ channel
18536931 Introduction into Ca(v)2.1 of the homologous mutation of Ca(v)1.2 causing the Timothy syndrome questions the role of V421 in the phenotypic definition of P-type Ca(2+) channel.
18535142 Coexpression of exogenous CaM (CaM(ex)) with alpha(1C)/alpha(2)delta in COS1 cells in the absence of Ca(v)beta subunits stimulates the plasma membrane targeting of alpha(1C).
18359894 Suggest that the decreased BAY K 8644 effects on Cav1.2 channels in failing cardiac myoyctes is caused by increased basal channel activity.
18317468 Genome-wide association study of gene-disease association. (HuGE Navigator)
18250309 study found that the Timothy syndrome mutation powerfully and selectively slows voltage-dependent inactivation while sparing or possibly speeding the kinetics of calcium-dependent inactivation
18174367 Knckout mice mice exhibit significant impairments in spatial memory when examined 30 days after training.
17950697 CS(L) modulates Ca2+-channel activity through interacting with the calmodulin-binding site on the C-terminal tail of the Cav1.2 channel.
17942635 The COOH terminus of hCa(v)1.2b contains sites for the SH2 and SH3 binding of Src kinase.
17916557 a smooth muscle Ca(v)1.2 splice variant has been identified functionally to possess biophysical property that can be linked to enhanced state-dependent block by DHP
17593353 Indirect evidence for an impaired src kinase regulation of I (Ca,L) together with an increased phosphatase activity suggests that a complex alteration in the kinase/phosphatase balance leads to I (Ca,L) dysregulation in chronic AF.
17224476 loss-of-function mutations in genes encoding the cardiac L-type calcium channel to be associated with a familial sudden cardiac death syndrome in which a Brugada syndrome phenotype is combined with shorter-than-normal QT intervals
17173968 testosterone inhibits currents in a concentration-dependent manner over the physiological range of testosterone concentrations (IC50 34 nM), and is not mimicked by the metabolite 5alpha-androstan-17beta-ol-3-one (DHT), nor by progesterone or estradiol.
17071743 localized changes in cytokine expression generated by inflammation in atherosclerosis affect alternative splicing of the Ca(v)1.2alpha1 gene
16820363 voltage-dependent facilitation of the Ca(v)1.2 channel depends on the phosphorylation of Ser1512/Ser1570 by calmodulin kinase II
16648185 We conclude that Rem is capable of regulating L-type current, that release of Rem block is modulated by cellular kinase pathways, and that the Ca(V)1.2 COOH terminus contributes to Rem-dependent channel inhibition.
16610939 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16610939 single nucleotide polymorphisms in CANCA1C had significant associations with antihypertensive outcome, combining to yield a positive treatment outcome of less than 15 to 80%
16319140 Ahnak has a critical role in cardiac Ca(V)1.2 calcium channel function and its beta-adrenergic regulation
16299511 The high-resolution structure of the Ca(2+)/CaM-Ca(V)1.2 IQ domain complex was reported.
16285952 The activation of p50 and p65 by tumor necrosis factor alpha suppresses the expression of the alpha1C subunit of Cav1.2 channels in human colonic circular smooth muscle cells
16157588 analysis of conformation and binding of CaV1.2
16020652 L-type Ca(2+) channels play a critical role in maintaining lower esophageal sphinctor tone.
15980432 the NT and IQ-domains of alpha(1)1.2 mediate functionally distinct interactions with CaBP1 and CaM that promote conformational alterations that either stabilize or inhibit inactivation of Ca(v)1.2.
15980164 the physicochemical properties of the amino acid residues at positions 1144 and 1152 are crucial to the CaV1.2 pore's ability to distinguish between multiple Ba(2+) ions and Ca(2+) ions
15863612 data indicate that gain-of-function mutations of CaV1.2 exons 8 and 8A cause distinct forms of Timothy syndrome
15845581 activation of Ca(2+) conductance and Ca(2+)-dependent inactivation depend on extracellular Ca(2+) and are linked to changes in selectivity
15749491 Expression of undeleted L-type calcium channel mRNAs correlates with normal testes cadmium and increased sperm count after varicocelectomy
15671035 cross-talk between the alpha1C C and N termini, beta subunit, and the cytoplasmic pore region confers the multifactorial regulation of Ca(v)1.2 channels
15583004 Ca(2+)-calmodulin assumes a novel conformation when it is part of a complex with the C-terminal tail of the Ca(V)1.2 alpha(1) subunit
15454078 Timothy syndrome results from a Ca(V)1.2 missense mutation. Ca(V)1.2 is expressed in all affected tissues. Functional expression reveals that G406R produces maintained inward Ca(2+) currents by causing loss of voltage-dependent channel inactivation.
15339916 short splice variants of the human cardiac Cavbeta2 subunit are involved in modulation of the Cav1.2 channel
15299022 there are extensive splice variations in the human l-type voltage-gated calcium channel, Cav1.2 alpha1 subunit
14981074 functional but non-voltage-gated L-type Ca2+ channels are expressed at the plasma membrane in T cells and play a role in the antigen receptor-mediated Ca2+ flux in these cells
14722109 the inhibitory modulation of cardiac Ca2+ channels, present in both alpha(1C) isoforms, is G(q)- and PLC-independent and Ca(2+)-dependent, but only basal levels of Ca(2+) are essential
12962146 there are multiple residues within the inhibitory domain that are crucial to the inhibitory process as well as to the enhancement of expressed current by intracellular application of proteases
12832067 tissue-secific expression of two isoforms under the control of distinct 5' flanking regulatory elements
12593842 determination of whether the expression of this channel is regulated by different promoters in smooth muscle cells and in heart
12163037 new promoter which exhibits 69% homology to its rat counterpart and displays functional promoter activity when transfected into heart cells in culture in luciferase-expressing constructs

AA Sequence


Text Mined References (242)

PMID Year Title
27218670 2016 Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.
27124316 2016 A Genome-Wide Association Study Provides New Evidence That CACNA1C Gene is Associated With Diabetic Cataract.
26611642 2015 CACNA1C risk variant affects facial emotion recognition in healthy individuals.
26553695 2015 Calcium Signaling Pathway Genes RUNX2 and CACNA1C Are Associated With Calcific Aortic Valve Disease.
26541689 2016 CACNA1C polymorphism and altered phosphorylation of tau in bipolar disorder.
26525885 2015 Emergent treatments based on the pathophysiology of bipolar disorder: A selective review.
26509803 2015 Brain Arousal Regulation in Carriers of Bipolar Disorder Risk Alleles.
26507659 2015 Molecular Basis of Regulating High Voltage-Activated Calcium Channels by S-Nitrosylation.
26476274 2016 Calcium channel genes associated with bipolar disorder modulate lithium's amplification of circadian rhythms.
26475575 2015 A common risk variant in CACNA1C supports a sex-dependent effect on longitudinal functioning and functional recovery from episodes of schizophrenia-spectrum but not bipolar disorder.
26406417 2015 Identification of genomic biomarkers associated with the clinicopathological parameters and prognosis of esophageal squamous cell carcinoma.
26401721 2015 Variation in CACNA1C is Associated with Amygdala Structure and Function in Adolescents.
26276307 2015 Meta-analysis of data from the Psychiatric Genomics Consortium and additional samples supports association of CACNA1C with risk for schizophrenia.
26253506 2015 Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.
26227746 2015 Genetic analysis of SNPs in CACNA1C and ANK3 gene with schizophrenia: A comprehensive meta-analysis.
26216687 2015 Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population.
26204268 2015 Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism.
26100638 2015 A Polybasic Plasma Membrane Binding Motif in the I-II Linker Stabilizes Voltage-gated CaV1.2 Calcium Channel Function.
26049408 2015 CACNA1C gene and schizophrenia: a case-control and pharmacogenetic study.
26049024 2015 Differential zinc permeation and blockade of L-type Ca2+ channel isoforms Cav1.2 and Cav1.3.
25918994 2015 Genome-wide methylation study on depression: differential methylation and variable methylation in monozygotic twins.
25841664 2015 The effects of the CACNA1C rs1006737 A/G on affective startle modulation in healthy males.
25633834 2015 Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
25588813 2015 Evaluating the association between CACNA1C rs1006737 and schizophrenia risk: A meta-analysis.
25470093 2014 CACNA1C genomewide supported psychosis genetic variation affects cortical brain white matter integrity in Chinese patients with schizophrenia.
25403839 2015 Functional implications of a psychiatric risk variant within CACNA1C in induced human neurons.
25341504 2014 Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.
25290268 2014 CACNA1C risk variant affects reward responsiveness in healthy individuals.
25260352 2015 Novel Timothy syndrome mutation leading to increase in CACNA1C window current.
25184293 2014 A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.
25107449 2014 Chronic atrial fibrillation increases microRNA-21 in human atrial myocytes decreasing L-type calcium current.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24996399 2014 The role of L-type voltage-gated calcium channels Cav1.2 and Cav1.3 in normal and pathological brain function.
24941892 2014 Pyrimidine-2,4,6-triones are a new class of voltage-gated L-type Ca2+ channel activators.
24816216 2014 Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.
24728418 2014 Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
24716743 2014 Analysis of ANK3 and CACNA1C variants identified in bipolar disorder whole genome sequence data.
24643163 2014 Epistatic interaction of genetic depression risk variants in the human subgenual cingulate cortex during memory encoding.
24642287 2014 Replication of brain function effects of a genome-wide supported psychiatric risk variant in the CACNA1C gene and new multi-locus effects.
24612926 2014 Genetic variation in CACNA1C affects neural processing in major depression.
24411473 2014 Hippocampal and frontolimbic function as intermediate phenotype for psychosis: evidence from healthy relatives and a common risk variant in CACNA1C.
24365142 2014 Protein kinase C-dependent activation of CaV1.2 channels selectively controls human TH2-lymphocyte functions.
24355530 2014 Further evidence for genetic association of CACNA1C and schizophrenia: new risk loci in a Han Chinese population and a meta-analysis.
24315451 2014 Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
24280982 2014 Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
24275578 2014 MIR137 gene and target gene CACNA1C of miR-137 contribute to schizophrenia susceptibility in Han Chinese.
24269271 2014 The impact of a CACNA1C gene polymorphism on learning and hippocampal formation in healthy individuals: a diffusion tensor imaging study.
24262814 2014 CACNA1C, schizophrenia and major depressive disorder in the Han Chinese population.
24240197 2013 Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation.
24108394 2013 Independent modulation of engagement and connectivity of the facial network during affect processing by CACNA1C and ANK3 risk genes for bipolar disorder.
24026422 2014 Genetic interactions found between calcium channel genes modulate amyloid load measured by positron emission tomography.
23979604 2014 A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
23973784 2013 Potent inhibition of L-type Ca2+ currents by a Rad variant associated with congestive heart failure.
23948887 2013 CaV1.2 calcium channel expression in reactive astrocytes is associated with the formation of amyloid-? plaques in an Alzheimer's disease mouse model.
23948586 2013 Regulation of cardiac L-type Ca²? channel CaV1.2 via the ?-adrenergic-cAMP-protein kinase A pathway: old dogmas, advances, and new uncertainties.
23900723 2013 Does the bipolar disorder-associated CACNA1C gene confer susceptibility to schizophrenia in Han Chinese?
23880959 2014 CACNA1C genotype explains interindividual differences in amygdala volume among patients with schizophrenia.
23860750 2014 A genome-wide supported variant in CACNA1C influences hippocampal activation during episodic memory encoding and retrieval.
23804206 2013 Regulation of L-type calcium channel sparklet activity by c-Src and PKC-?.
23771339 2013 Parkinson's disease is associated with altered expression of CaV1 channels and calcium-binding proteins.
23733657 2013 Lobe-related concentration- and Ca(2+)-dependent interactions of calmodulin with C- and N-terminal tails of the CaV1.2 channel.
23728906 2013 A genome-wide association study of sleep habits and insomnia.
23680436 2013 Association of genetic variation in CACNA1C with bipolar disorder in Han Chinese.
23677916 2013 Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
23575362 2013 L-type calcium channel mutations in Japanese patients with inherited arrhythmias.
23557075 2013 A macromolecular trafficking complex composed of ??-adrenergic receptors, A-Kinase Anchoring Proteins and L-type calcium channels.
23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
23437964 2013 Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association study.
23437284 2013 CACNA1C risk variant and amygdala activity in bipolar disorder, schizophrenia and healthy controls.
23406546 2013 The CACNA1C risk allele selectively impacts on executive function in bipolar type I disorder.
23404764 2014 Association of rs1006737 in CACNA1C with alterations in prefrontal activation and fronto-hippocampal connectivity.
23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
22990809 Ca(V)1.2 I-II linker structure and Timothy syndrome.
22985546 2013 CACNA1C as a risk factor for schizotypal personality disorder and schizotypy in healthy individuals.
22957138 2012 Effects of the CACNA1C risk allele on neurocognition in patients with schizophrenia and healthy individuals.
22914618 2013 Evidence for the impact of the CACNA1C risk allele rs1006737 on 2-year cognitive functioning in bipolar disorder.
22705413 2012 CACNA1C (Cav1.2) in the pathophysiology of psychiatric disease.
22688191 2012 Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
22665259 2013 The psychiatric vulnerability gene CACNA1C and its sex-specific relationship with personality traits, resilience factors and depressive symptoms in the general population.
22647524 2012 ANK3 and CACNA1C--missing genetic link for bipolar disorder and major depressive disorder in two German case-control samples.
22614292 2013 The impact of CACNA1C allelic variation on effective connectivity during emotional processing in bipolar disorder.
22614287 2013 Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC.
22590648 2012 Distinct RGK GTPases differentially use ?1- and auxiliary ?-binding-dependent mechanisms to inhibit CaV1.2/CaV2.2 channels.
22490625 2012 [Impact of CACNA1C polymorphisms on antihypertensive efficacy of calcium channel blocker].
22464935 2012 The impact of the CACNA1C risk allele on limbic structures and facial emotions recognition in bipolar disorder subjects and healthy controls.
22261054 2011 Single-channel monitoring of reversible L-type Ca(2+) channel Ca(V)?(1)-Ca(V)? subunit interaction.
22142827 2012 A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303.
22100296 2011 Protein kinase D regulates the human cardiac L-type voltage-gated calcium channel through serine 1884.
22085483 The association of genetic variation in CACNA1C with structure and function of a frontotemporal system.
22012475 2012 The effects of CACNA1C gene polymorphism on spatial working memory in both healthy controls and patients with schizophrenia or bipolar disorder.
21998324 2011 Splice variant specific modulation of CaV1.2 calcium channel by galectin-1 regulates arterial constriction.
21931320 2012 Functional gene group analysis identifies synaptic gene groups as risk factor for schizophrenia.
21926974 2011 Genome-wide association study identifies five new schizophrenia loci.
21926972 2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
21810465 2011 Ca(v)1.2 calcium channel is glutathionylated during oxidative stress in guinea pig and ischemic human heart.
21788606 2011 Functional importance of L- and P/Q-type voltage-gated calcium channels in human renal vasculature.
21767209 2011 ANK3, CACNA1C and ZNF804A gene variants in bipolar disorders and psychosis subphenotype.
21712653 Calmodulin overexpression does not alter Cav1.2 function or oligomerization state.
21685391 2011 Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein.
21676128 2011 The CACNA1C and ANK3 risk alleles impact on affective personality traits and startle reactivity but not on cognition or gating in healthy males.
21665954 2011 Facilitation and Ca2+-dependent inactivation are modified by mutation of the Ca(v)1.2 channel IQ motif.
21664226 2011 Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels.
21521762 2011 Robust L-type calcium current expression following heterozygous knockout of the Cav1.2 gene in adult mouse heart.
21519340 2011 The impact of the CACNA1C gene polymorphism on frontolimbic function in bipolar disorder.
21487241 Mapping of dihydropyridine binding residues in a less sensitive invertebrate L-type calcium channel (LCa v 1).
21395576 2011 No association between bipolar disorder risk polymorphisms in ANK3 and CACNA1C and common migraine.
21352396 2011 Rescue and worsening of congenital heart block-associated electrocardiographic abnormalities in two transgenic mice.
21292451 2011 Initial evidence for the role of CACNA1C on subcortical brain morphology in patients with bipolar disorder.
21282112 2011 Regulation of the mutually exclusive exons 8a and 8 in the CaV1.2 calcium channel transcript by polypyrimidine tract-binding protein.
21248752 2011 Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
21134641 2010 Structural basis for the differential effects of CaBP1 and calmodulin on Ca(V)1.2 calcium-dependent inactivation.
21098446 2010 MicroRNA-328 contributes to adverse electrical remodeling in atrial fibrillation.
21078228 2011 Effects of a CACNA1C genotype on attention networks in healthy individuals.
21057379 2011 Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.
21042317 2012 Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.
20953164 2010 Multiple C-terminal tail Ca(2+)/CaMs regulate Ca(V)1.2 function but do not mediate channel dimerization.
20924598 2011 Physicochemical properties of pore residues predict activation gating of Ca V1.2: a correlation mutation analysis.
20819988 2010 Genetic variation in CACNA1C affects brain circuitries related to mental illness.
20817017 2010 Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.
20723887 2010 Mood disorder susceptibility gene CACNA1C modifies mood-related behaviors in mice and interacts with sex to influence behavior in mice and diagnosis in humans.
20719785 2010 Absence of calcium channel alpha1C-subunit mutation in human atrial fibrillation.
20679588 2010 Brain function in carriers of a genome-wide supported bipolar disorder variant.
20677014 2010 An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
20638048 2010 Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals.
20636642 2010 Evidence for cis-acting regulation of ANK3 and CACNA1C gene expression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20371314 2010 Phospholemman modulates the gating of cardiac L-type calcium channels.
20351721 2010 The CACNA1C risk variant for bipolar disorder influences limbic activity.
20351715 2011 Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
20226536 2010 Variations in FKBP5 and BDNF genes are suggestively associated with depression in a Swedish population-based cohort.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20169111 2010 BIN1 localizes the L-type calcium channel to cardiac T-tubules.
20098439 2010 CACNA1C (rs1006737) is associated with schizophrenia.
20066046 2010 Anion-sensitive regions of L-type CaV1.2 calcium channels expressed in HEK293 cells.
20031608 2009 CACNA1C gene polymorphisms, cardiovascular disease outcomes, and treatment response.
19952088 2009 Effects of the CACNA1C risk allele for bipolar disorder on cerebral gray matter volume in healthy individuals.
19916019 2010 CaV1.2 channelopathies: from arrhythmias to autism, bipolar disorder, and immunodeficiency.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19781653 2010 Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals.
19717733 2009 Ca(v)1.2 splice variant with exon 9* is critical for regulation of cerebral artery diameter.
19687230 2009 Different pathways for activation and deactivation in CaV1.2: a minimal gating model.
19625771 The cardiac alpha(1C) subunit can support excitation-triggered Ca2+ entry in dysgenic and dyspedic myotubes.
19621016 2010 The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia.
19620129 2009 Transgenic simulation of human heart failure-like L-type Ca2+-channels: implications for fibrosis and heart rate in mice.
19520970 2009 L-type calcium channel blockers exert an antiinflammatory effect by suppressing expression of plasminogen receptors on macrophages.
19492014 2009 Effect of Ca(v)beta subunits on structural organization of Ca(v)1.2 calcium channels.
19388002 2010 Phenotypic effects of a bipolar liability gene among individuals with major depressive disorder.
19351867 2009 The intracellular II-III loops of Cav1.2 and Cav1.3 uncouple L-type voltage-gated Ca2+ channels from glucagon-like peptide-1 potentiation of insulin secretion in INS-1 cells via displacement from lipid rafts.
19279214 2009 Crystal structure of dimeric cardiac L-type calcium channel regulatory domains bridged by Ca2+* calmodulins.
19265197 2009 Coupled and independent contributions of residues in IS6 and IIS6 to activation gating of CaV1.2.
19225208 2009 Genetic polymorphisms of L-type calcium channel alpha1C and alpha1D subunit genes are associated with sensitivity to the antihypertensive effects of L-type dihydropyridine calcium-channel blockers.
19215628 2009 Extracting a needle from a haystack: reanalysis of whole genome data reveals a readily translatable finding.
19205682 2009 Effects of CYP3A5, MDR1 and CACNA1C polymorphisms on the oral disposition and response of nimodipine in a Chinese cohort.
19106618 Functional properties of the CaV1.2 calcium channel activated by calmodulin in the absence of alpha2delta subunits.
19095005 2009 New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes.
19065143 2009 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.
18927079 2008 Ryanodine receptor activation by Ca v 1.2 is involved in dendritic cell major histocompatibility complex class II surface expression.
18836301 Molecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2.
18711365 2008 Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
18675806 2008 Denitration of L-type calcium channel.
18618671 2009 Genetic predictors of depressive symptoms in cardiac patients.
18603601 2008 Sorcin modulates cardiac L-type Ca2+ current by functional interaction with the alpha1C subunit in rabbits.
18596041 2008 Carbon monoxide inhibits L-type Ca2+ channels via redox modulation of key cysteine residues by mitochondrial reactive oxygen species.
18536931 2008 Introduction into Ca(v)2.1 of the homologous mutation of Ca(v)1.2 causing the Timothy syndrome questions the role of V421 in the phenotypic definition of P-type Ca(2+) channel.
18535201 2008 A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
18535142 2008 Calmodulin-dependent gating of Ca(v)1.2 calcium channels in the absence of Ca(v)beta subunits.
18359894 2008 Reduced effects of BAY K 8644 on L-type Ca2+ current in failing human cardiac myocytes are related to abnormal adrenergic regulation.
18317468 2008 Whole-genome association study of bipolar disorder.
18250309 2008 The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels.
18174367 2008 Conditional forebrain deletion of the L-type calcium channel Ca V 1.2 disrupts remote spatial memories in mice.
17950697 2007 Calpastatin binds to a calmodulin-binding site of cardiac Cav1.2 Ca2+ channels.
17942635 2007 COOH-terminal association of human smooth muscle calcium channel Ca(v)1.2b with Src kinase protein binding domains: effect of nitrotyrosylation.
17916557 2007 A smooth muscle Cav1.2 calcium channel splice variant underlies hyperpolarized window current and enhanced state-dependent inhibition by nifedipine.
17593353 2007 Pharmacological evidence for altered src kinase regulation of I (Ca,L) in patients with chronic atrial fibrillation.
17224476 2007 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.
17173968 2007 Molecular requirements for L-type Ca2+ channel blockade by testosterone.
17110593 2007 Molecular coupling of a Ca2+-activated K+ channel to L-type Ca2+ channels via alpha-actinin2.
17071743 2006 Atherosclerosis-related molecular alteration of the human CaV1.2 calcium channel alpha1C subunit.
16820363 2006 Calmodulin kinase II is involved in voltage-dependent facilitation of the L-type Cav1.2 calcium channel: Identification of the phosphorylation sites.
16648185 2006 L-type calcium channel alpha-subunit and protein kinase inhibitors modulate Rem-mediated regulation of current.
16610939 2006 CACNA1C polymorphisms are associated with the efficacy of calcium channel blockers in the treatment of hypertension.
16541075 2006 The finished DNA sequence of human chromosome 12.
16382099 2005 International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels.
16319140 2005 Ahnak is critical for cardiac Ca(V)1.2 calcium channel function and its beta-adrenergic regulation.
16299511 2005 Insights into voltage-gated calcium channel regulation from the structure of the CaV1.2 IQ domain-Ca2+/calmodulin complex.
16285952 2005 Negative transcriptional regulation of human colonic smooth muscle Cav1.2 channels by p50 and p65 subunits of nuclear factor-kappaB.
16157588 2005 Structural determinants of L-type channel activation in segment IIS6 revealed by a retinal disorder.
16020652 2005 Functional and molecular analysis of L-type calcium channels in human esophagus and lower esophageal sphincter smooth muscle.
15980432 2005 Molecular mechanism for divergent regulation of Cav1.2 Ca2+ channels by calmodulin and Ca2+-binding protein-1.
15980164 2005 Amino acid substitutions in the pore of the Ca(V)1.2 calcium channel reduce barium currents without affecting calcium currents.
15916803 2005 Tissue distribution of a human Ca v 1.2 alpha1 subunit splice variant with a 75 bp insertion.
15863612 2005 Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
15845581 2005 Role of extracellular Ca2+ in gating of CaV1.2 channels.
15749491 2005 Deletions in L-type calcium channel alpha1 subunit testicular transcripts correlate with testicular cadmium and apoptosis in infertile men with varicoceles.
15671035 2005 Differential role of the alpha1C subunit tails in regulation of the Cav1.2 channel by membrane potential, beta subunits, and Ca2+ ions.
15583004 2005 Sites on calmodulin that interact with the C-terminal tail of Cav1.2 channel.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15454078 2004 Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
15339916 2004 New short splice variants of the human cardiac Cavbeta2 subunit: redefining the major functional motifs implemented in modulation of the Cav1.2 channel.
15299022 2004 Transcript scanning reveals novel and extensive splice variations in human l-type voltage-gated calcium channel, Cav1.2 alpha1 subunit.
15141227 2004 Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain.
15140941 2004 Ca2+-binding protein-1 facilitates and forms a postsynaptic complex with Cav1.2 (L-type) Ca2+ channels.
14981074 2004 Non-voltage-gated L-type Ca2+ channels in human T cells: pharmacology and molecular characterization of the major alpha pore-forming and auxiliary beta-subunits.
14722109 2004 Modulation of cardiac Ca2+ channel by Gq-activating neurotransmitters reconstituted in Xenopus oocytes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12962146 2003 Characterization of auto-regulation of the human cardiac alpha1 subunit of the L-type calcium channel: importance of the C-terminus.
12832067 2003 Tissue-specific expression of two human Ca(v)1.2 isoforms under the control of distinct 5' flanking regulatory elements.
12593842 2003 Smooth muscle uses another promoter to express primarily a form of human Cav1.2 L-type calcium channel different from the principal heart form.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12181424 2002 Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.
12176756 2002 alpha(1C) (Ca(V)1.2) L-type calcium channel mediates mechanosensitive calcium regulation.
12166659 2002 Twenty single-nucleotide polymorphisms in four genes encoding cardiac ion channels.
12163037 2002 A new promoter for alpha1C subunit of human L-type cardiac calcium channel Ca(V)1.2.
12130699 2002 Effects of methylmercury on human neuronal L-type calcium channels transiently expressed in human embryonic kidney cells (HEK-293).
11741969 2002 A novel long N-terminal isoform of human L-type Ca2+ channel is up-regulated by protein kinase C.
11576544 2001 Skeletal and cardiac ryanodine receptors bind to the Ca(2+)-sensor region of dihydropyridine receptor alpha(1C) subunit.
11461190 2001 Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia.
11438518 2001 Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP-25, and synaptotagmin.
11206130 2000 Triad proteins and intracellular Ca2+ transients during development of human skeletal muscle cells in aneural and innervated cultures.
10022083 1998 Fiber-FISH analysis of the 3'-terminal region of the human L-type Ca2+ channel alpha 1C subunit gene.
9668070 1998 Sorcin associates with the pore-forming subunit of voltage-dependent L-type Ca2+ channels.
9607315 1998 Ca2+ channel sensitivity towards the blocker isradipine is affected by alternative splicing of the human alpha1C subunit gene.
9247274 1997 cAMP-dependent regulation of cardiac L-type Ca2+ channels requires membrane targeting of PKA and phosphorylation of channel subunits.
9110174 1997 Large-scale concatenation cDNA sequencing.
9087614 1997 Properties of three COOH-terminal splice variants of a human cardiac L-type Ca2+-channel alpha1-subunit.
9013606 1997 Molecular structures involved in L-type calcium channel inactivation. Role of the carboxyl-terminal region encoded by exons 40-42 in alpha1C subunit in the kinetics and Ca2+ dependence of inactivation.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
8612821 1996 A potential site of functional modulation by protein kinase A in the cardiac Ca2+ channel alpha 1C subunit.
8392192 1993 Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart.
8099908 1993 Molecular localization of ion selectivity sites within the pore of a human L-type cardiac calcium channel.
7959794 1994 Genomic structure of human L-type Ca2+ channel.
7737988 1995 Different voltage-dependent inhibition by dihydropyridines of human Ca2+ channel splice variants.
2173707 1990 Molecular diversity of L-type calcium channels. Evidence for alternative splicing of the transcripts of three non-allelic genes.
1653763 1991 Assignment of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CCHL1A1) to chromosome 12p12-pter.
1650913 1991 Normalization of current kinetics by interaction between the alpha 1 and beta subunits of the skeletal muscle dihydropyridine-sensitive Ca2+ channel.
1335957 1992 Mapping of a human brain voltage-gated calcium channel to human chromosome 12p13-pter.
1330882 1992 Linkage mapping of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CACNL1A1) to chromosome 12p13.2-pter using a dinucleotide repeat.
1316612 1992 Molecular diversity of L-type Ca2+ channel transcripts in human fibroblasts.