Gene:
CACNA1C
calcium channel, voltage-dependent, L type, alpha 1C subunit

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs1006737 2285295G>A, 2345295G>A, 270344G>A, 477+115699G>A
G > A
Intronic
No VIP available CA VA
rs1051375 2728879G>A, 2788879G>A, 334-1816C>T, 5328G>A, 5352G>A, 5361G>A, 5379G>A, 5385G>A, 5412G>A, 5418G>A, 5421G>A, 5445G>A, 5484G>A, 5505G>A, 713928G>A, Thr1776=, Thr1784=, Thr1787=, Thr1793=, Thr1795=, Thr1804=, Thr1806=, Thr1807=, Thr1815=, Thr1828=, Thr1835=
G > A
Synonymous
Thr1806Thr
No VIP available No Clinical Annotations available VA
rs10848635 2256195T>A, 2316195T>A, 241244T>A, 477+86599T>A
T > A
Intronic
No VIP available No Clinical Annotations available VA
rs216013 2669632A>G, 2729632A>G, 3819+8453A>G, 3828+8453A>G, 3888+8453A>G, 654681A>G
A > G
Intronic
No VIP available CA VA
rs2238032 147781T>G, 2162732T>G, 2222732T>G, 50-1658T>G
T > G
Intronic
No VIP available CA VA
rs2239050 2387414G>C, 2447414G>C, 372463G>C, 478-110728G>C
G > C
Intronic
No VIP available CA VA
rs2239128 2697769T>C, 2757769T>C, 3907-3037T>C, 3913-3037T>C, 3936+96T>C, 3945+96T>C, 3997-3037T>C, 4005+96T>C, 4029+96T>C, 4089+96T>C, 682818T>C
T > C
Intronic
No VIP available No Clinical Annotations available VA
rs7295250 2716943T>C, 2776943T>C, 4584+995T>C, 4590+995T>C, 4614+995T>C, 4623+995T>C, 4674+995T>C, 4683+995T>C, 4689+995T>C, 4707+995T>C, 4767+995T>C, 701992T>C
T > C
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  CACH2; CACN2; Cav1.2; LQT8; TS
PharmGKB Accession Id: PA83

Details

Cytogenetic Location: chr12 : p13.33 - p13.33
GP mRNA Boundary: chr12 : 2162416 - 2807115
GP Gene Boundary: chr12 : 2152416 - 2810115
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    Representation of anti-diabetic drugs repaglinide, nateglinide and sulfonylurea effects on insulin secretion in pancreatic cells.
  1. Antiarrhythmic Pathway, Pharmacodynamics
    Pharmacodynamic pathway of antiarrhythmic drugs in a stylized cardiac myocyte.
  1. Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
    Simplified pharmacodynamic pathway of drug action on beta 2 adrenergic receptor in a stylized airway cell.
  1. Celecoxib Pathway, Pharmacodynamics
    Stylized cell depicting the mechanism of action of celecoxib and candidate genes interacting with celecoxib and involved in the regulation of cell cycle, apoptosis and angiogenesis by celecoxib.
  1. Nicotine Pathway (Chromaffin Cell), Pharmacodynamics
    Representation of genes involved in nicotine effects in chromaffin cells.
  1. Sympathetic Nerve Pathway (Neuroeffector Junction)
    Simplified diagram of a sympathetic neuroeffector junction displaying genes which may be involved.
  1. Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)
    Simplified diagram of a sympathetic neuronal junction displaying genes involved in neurotransmitter biosynthesis in response to neuronal stimulation.
  1. Valproic Acid Pathway, Pharmacodynamics
    Graphic representation of the candidate genes involved in valproic acid pharmacodynamics.

External Pathways

Links to non-PharmGKB pathways.

PharmGKB contains no links to external pathways for this gene. To report a pathway, click here.

Curated Information ?

Evidence Gene
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
PRKACA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
PRKACB
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
PRKACG

Curated Information ?

Curated Information ?

Publications related to CACNA1C: 18

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The genetics of pro-arrhythmic adverse drug reactions. British journal of clinical pharmacology. 2014. Petropoulou Evmorfia, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Adoption of a clinical pharmacogenomics implementation program during outpatient care-initial results of the University of Chicago "1,200 Patients Project". American journal of medical genetics. Part C, Seminars in medical genetics. 2014. O'Donnell Peter H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Human pharmacogenomic variation of antihypertensive drugs: from population genetics to personalized medicine. Pharmacogenomics. 2014. Polimanti Renato, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. Molecular psychiatry. 2013. Ruderfer D M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes. The pharmacogenomics journal. 2012. Ramirez A H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes. Circulation. Cardiovascular genetics. 2011. Kääb Stefan, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of Hypertension Drug Target Genes With Blood Pressure and Hypertension in 86 588 Individuals. Hypertension. 2011. Johnson Andrew D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nature genetics. 2011. Psychiatric GWAS Consortium Bipolar Disorder Working Group, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Drug-induced long QT syndrome. Pharmacological reviews. 2010. Kannankeril Prince, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Phenotypic effects of a bipolar liability gene among individuals with major depressive disorder. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2010. Casamassima Francesco, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Dihydropyridines: evaluation of their current and future pharmacological applications. Drug discovery today. 2009. Edraki Najmeh, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
CACNA1C gene polymorphisms, cardiovascular disease outcomes, and treatment response. Circulation. Cardiovascular genetics. 2009. Beitelshees Amber L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nature genetics. 2008. Ferreira Manuel A R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. Blood. 2008. Cooper Gregory M, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
CACNA1C polymorphisms are associated with the efficacy of calcium channel blockers in the treatment of hypertension. Pharmacogenomics. 2006. Bremer Troy, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
An increase in intracellular free calcium ions by nicotinic acetylcholine receptors in a single cultured rat cortical astrocyte. Journal of neuroscience research. 2005. Oikawa Hirotaka, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Calcium-dependent inhibition of L, N, and P/Q Ca2+ channels in chromaffin cells: role of mitochondria. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2001. Hernandez-Guijo J M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart. Proceedings of the National Academy of Sciences of the United States of America. 1993. Schultz D, et al. PubMed