Gene:
CACNA1A
calcium channel, voltage-dependent, P/Q type, alpha 1A 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.

? = Mouse-over for quick help

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.

List of all variant annotations for CACNA1A

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs2074880 NC_000019.10:g.13261817A>C, NC_000019.9:g.13372631A>C, NG_011569.1:g.249644T>G, NM_000068.3:c.4102-207T>G, NM_001127221.1:c.4093-207T>G, NM_001127222.1:c.4090-207T>G, NM_001174080.1:c.4093-207T>G, NM_023035.2:c.4102-207T>G, XM_005260065.1:c.4099-207T>G, XM_005260066.1:c.4093-207T>G, XM_005260067.1:c.4093-207T>G, XM_005260068.1:c.4090-207T>G, rs58047627
A > C
SNP
No VIP available CA VA
rs2112460 NC_000019.10:g.13479598G>A, NC_000019.9:g.13590412G>A, NG_011569.1:g.31863C>T, NM_000068.3:c.294-24386C>T, NM_001127221.1:c.294-24386C>T, NM_001127222.1:c.294-24386C>T, NM_001174080.1:c.294-24386C>T, NM_023035.2:c.294-24386C>T, XM_005260065.1:c.294-24386C>T, XM_005260066.1:c.294-24386C>T, XM_005260067.1:c.294-24386C>T, XM_005260068.1:c.294-24386C>T, rs111189427, rs17707328, rs61314943
G > A
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  CACNL1A4; MHP; MHP1; SCA6
Alternate Symbols:  APCA; Cav2.1; EA2; FHM; HPCA
PharmGKB Accession Id: PA26007

Details

Cytogenetic Location: chr19 : p13.2 - p13.2
GP mRNA Boundary: chr19 : 13317256 - 13617274
GP Gene Boundary: chr19 : 13314256 - 13627274
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
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. 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. 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.

External Pathways

Links to non-PharmGKB pathways.

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

No related genes are available

Curated Information ?

Curated Information ?

Publications related to CACNA1A: 10

No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway. BMC psychiatry. 2016. Cocchi Enrico, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population. Seizure. 2015. Lv Nan, 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
Pharmacogenetic insights into migraine treatment in children. Pharmacogenomics. 2014. Gentile Giovanna, 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
Masters or slaves? Vesicle release machinery and the regulation of presynaptic calcium channels. Cell calcium. 2005. Jarvis Scott E, 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
Presynaptic Ca2+ channels: a functional patchwork. Trends in neurosciences. 2003. Reid Christopher A, 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
Migraine with aura is not linked to the FHM gene CACNA1A or the chromosomal region, 19p13. Neurology. 2002. Noble-Topham S E, 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
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. The New England journal of medicine. 2001. Ducros A, 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
Calcium channel subtypes differ at two types of cholinergic synapse in lumbar sympathetic neurones of guinea-pigs. The Journal of physiology. 1999. Ireland D R, et al. PubMed

LinkOuts

HuGE:
CACNA1A
Comparative Toxicogenomics Database:
773
ModBase:
Q99793
HumanCyc Gene:
HS06873
IUPHAR Receptor:
Cav2.1 (532)
HGNC:
1388

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