Property Summary

NCBI Gene PubMed Count 239
PubMed Score 489.25
PubTator Score 422.68

Knowledge Summary

Patent (8,673)

TINX Plot

  Disease (7)

Expression

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)

PMID Text
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

MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAARQAKLMGSAGN      1 - 70
ATISTVSSTQRKRQQYGKPKKQGSTTATRPPRALLCLTLKNPIRRACISIVEWKPFEIIILLTIFANCVA     71 - 140
LAIYIPFPEDDSNATNSNLERVEYLFLIIFTVEAFLKVIAYGLLFHPNAYLRNGWNLLDFIIVVVGLFSA    141 - 210
ILEQATKADGANALGGKGAGFDVKALRAFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVII    211 - 280
IYAIIGLELFMGKMHKTCYNQEGIADVPAEDDPSPCALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFA    281 - 350
FAMLTVFQCITMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGD    351 - 420
FQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDEEKPRNMSMPTSETESVNTENVAGGDIEGENCG    421 - 490
ARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNTLTIASEHYNQPNWLTEVQDTAN    491 - 560
KALLALFTAEMLLKMYSLGLQAYFVSLFNRFDCFVVCGGILETILVETKIMSPLGISVLRCVRLLRIFKI    561 - 630
TRYWNSLSNLVASLLNSVRSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDEMQTRRSTFDNFPQSLLTVF    631 - 700
QILTGEDWNSVMYDGIMAYGGPSFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLADAESLTSAQKEEE    701 - 770
EEKERKKLARTASPEKKQELVEKPAVGESKEEKIELKSITADGESPPATKINMDDLQPNENEDKSPYPNP    771 - 840
ETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAFFIFSSNNRFRLQCHRIVNDTIFTNLILFFI    841 - 910
LLSSISLAAEDPVQHTSFRNHILFYFDIVFTTIFTIEIALKILGNADYVFTSIFTLEIILKMTAYGAFLH    911 - 980
KGSFCRNYFNILDLLVVSVSLISFGIQSSAINVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIG    981 - 1050
NIVIVTTLLQFMFACIGVQLFKGKLYTCSDSSKQTEAECKGNYITYKDGEVDHPIIQPRSWENSKFDFDN   1051 - 1120
VLAAMMALFTVSTFEGWPELLYRSIDSHTEDKGPIYNYRVEISIFFIIYIIIIAFFMMNIFVGFVIVTFQ   1121 - 1190
EQGEQEYKNCELDKNQRQCVEYALKARPLRRYIPKNQHQYKVWYVVNSTYFEYLMFVLILLNTICLAMQH   1191 - 1260
YGQSCLFKIAMNILNMLFTGLFTVEMILKLIAFKPKGYFSDPWNVFDFLIVIGSIIDVILSETNHYFCDA   1261 - 1330
WNTFDALIVVGSIVDIAITEVNPAEHTQCSPSMNAEENSRISITFFRLFRVMRLVKLLSRGEGIRTLLWT   1331 - 1400
FIKSFQALPYVALLIVMLFFIYAVIGMQVFGKIALNDTTEINRNNNFQTFPQAVLLLFRCATGEAWQDIM   1401 - 1470
LACMPGKKCAPESEPSNSTEGETPCGSSFAVFYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPH   1471 - 1540
HLDEFKRIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVSMNMPLNSDGTVMFNATL   1541 - 1610
FALVRTALRIKTEGNLEQANEELRAIIKKIWKRTSMKLLDQVVPPAGDDEVTVGKFYATFLIQEYFRKFK   1611 - 1680
KRKEQGLVGKPSQRNALSLQAGLRTLHDIGPEIRRAISGDLTAEEELDKAMKEAVSAASEDDIFRRAGGL   1681 - 1750
FGNHVSYYQSDGRSAFPQTFTTQRPLHINKAGSSQGDTESPSHEKLVDSTFTPSSYSSTGSNANINNANN   1751 - 1820
TALGRLPRPAGYPSTVSTVEGHGPPLSPAIRVQEVAWKLSSNRERHVPMCEDLELRRDSGSAGTQAHCLL   1821 - 1890
LRKANPSRCHSRESQAAMAGQEETSQDETYEVKMNHDTEACSEPSLLSTEMLSYQDDENRQLTLPEEDKR   1891 - 1960
DIRQSPKRGFLRSASLGRRASFHLECLKRQKDRGGDISQKTVLPLHLVHHQALAVAGLSPLLQRSHSPAS   1961 - 2030
FPRPFATPPATPGSRGWPPQPVPTLRLEGVESSEKLNSSFPSIHCGSWAETTPGGGGSSAARRVRPVSLM   2031 - 2100
VPSQAGAPGRQFHGSASSLVEAVLISEGLGQFAQDPKFIEVTTQELADACDMTIEEMESAADNILSGGAP   2101 - 2170
QSPNGALLPFVNCRDAGQDRAGGEEDAGCVRARGRPSEEELQDSRVYVSSL                      2171 - 2221
//

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12181424 2002 Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit.
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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.
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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.