Gene:
CACNA1H
calcium channel, voltage-dependent, T type, alpha 1H 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.

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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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 CACNA1H

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs1054645 NC_000016.10:g.1220162G>A, NC_000016.9:g.1270162G>A, NG_012647.1:g.71922G>A, NM_001005407.1:c.6212G>A, NM_021098.2:c.6230G>A, NP_001005407.1:p.Arg2071His, NP_066921.2:p.Arg2077His, XM_005255652.1:c.6212G>A, XM_005255652.3:c.6212G>A, XM_005255653.1:c.6197G>A, XM_005255654.1:c.6179G>A, XM_005255655.1:c.6245G>A, XM_006720963.2:c.6245G>A, XM_006720964.2:c.6197G>A, XM_006720965.2:c.6179G>A, XM_011522724.1:c.5699G>A, XM_011522725.1:c.3296G>A, XP_005255709.1:p.Arg2071His, XP_005255710.1:p.Arg2066His, XP_005255711.1:p.Arg2060His, XP_005255712.1:p.Arg2082His, XP_006721026.1:p.Arg2082His, XP_006721027.1:p.Arg2066His, XP_006721028.1:p.Arg2060His, XP_011521026.1:p.Arg1900His, XP_011521027.1:p.Arg1099His, rs17745303, rs3195163, rs3751890, rs60109536
G > A
SNP
R2071H
No VIP available No Clinical Annotations available VA
rs3751664 NC_000016.10:g.1204369C>T, NC_000016.9:g.1254369C>T, NG_012647.1:g.56129C>T, NM_001005407.1:c.2362C>T, NM_021098.2:c.2362C>T, NP_001005407.1:p.Arg788Cys, NP_066921.2:p.Arg788Cys, XM_005255652.1:c.2362C>T, XM_005255652.3:c.2362C>T, XM_005255653.1:c.2362C>T, XM_005255654.1:c.2362C>T, XM_005255655.1:c.2362C>T, XM_005255656.1:c.2362C>T, XM_005255657.1:c.2362C>T, XM_006720963.2:c.2362C>T, XM_006720964.2:c.2362C>T, XM_006720965.2:c.2362C>T, XM_006720967.2:c.2362C>T, XM_006720968.2:c.2362C>T, XM_006720969.2:c.2362C>T, XM_011522724.1:c.1816C>T, XM_011522726.1:c.2362C>T, XM_011522727.1:c.2362C>T, XP_005255709.1:p.Arg788Cys, XP_005255710.1:p.Arg788Cys, XP_005255711.1:p.Arg788Cys, XP_005255712.1:p.Arg788Cys, XP_005255713.1:p.Arg788Cys, XP_005255714.1:p.Arg788Cys, XP_006721026.1:p.Arg788Cys, XP_006721027.1:p.Arg788Cys, XP_006721028.1:p.Arg788Cys, XP_006721030.1:p.Arg788Cys, XP_006721031.1:p.Arg788Cys, XP_006721032.1:p.Arg788Cys, XP_011521026.1:p.Arg606Cys, XP_011521028.1:p.Arg788Cys, XP_011521029.1:p.Arg788Cys, XR_932960.1:n.2464C>T, rs56611441, rs56779145
C > T
SNP
R788C
No VIP available No Clinical Annotations available VA
rs3794619 NC_000016.10:g.1197482T>C, NC_000016.9:g.1247482T>C, NG_012647.1:g.49242T>C, NM_001005407.1:c.644-1133T>C, NM_021098.2:c.644-1133T>C, XM_005255652.1:c.644-1133T>C, XM_005255652.3:c.644-1133T>C, XM_005255653.1:c.644-1133T>C, XM_005255654.1:c.644-1133T>C, XM_005255655.1:c.644-1133T>C, XM_005255656.1:c.644-1133T>C, XM_005255657.1:c.644-1133T>C, XM_006720963.2:c.644-1133T>C, XM_006720964.2:c.644-1133T>C, XM_006720965.2:c.644-1133T>C, XM_006720967.2:c.644-1133T>C, XM_006720968.2:c.644-1133T>C, XM_006720969.2:c.644-1133T>C, XM_011522724.1:c.98-1133T>C, XM_011522726.1:c.644-1133T>C, XM_011522727.1:c.644-1133T>C, XR_932960.1:n.746-1133T>C, rs57683883
T > C
SNP
No VIP available No Clinical Annotations available VA
rs7191246 NC_000016.10:g.1202737G>C, NC_000016.9:g.1252737G>C, NG_012647.1:g.54497G>C, NM_001005407.1:c.2002+285G>C, NM_021098.2:c.2002+285G>C, XM_005255652.1:c.2002+285G>C, XM_005255652.3:c.2002+285G>C, XM_005255653.1:c.2002+285G>C, XM_005255654.1:c.2002+285G>C, XM_005255655.1:c.2002+285G>C, XM_005255656.1:c.2002+285G>C, XM_005255657.1:c.2002+285G>C, XM_006720963.2:c.2002+285G>C, XM_006720964.2:c.2002+285G>C, XM_006720965.2:c.2002+285G>C, XM_006720967.2:c.2002+285G>C, XM_006720968.2:c.2002+285G>C, XM_006720969.2:c.2002+285G>C, XM_011522724.1:c.1456+285G>C, XM_011522726.1:c.2002+285G>C, XM_011522727.1:c.2002+285G>C, XR_932960.1:n.2104+285G>C, XR_932995.1:n.-1026C>G
G > C
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  None
Alternate Symbols:  Cav3.2
PharmGKB Accession Id: PA380

Details

Cytogenetic Location: chr16 : p13.3 - p13.3
GP mRNA Boundary: chr16 : 1203241 - 1271772
GP Gene Boundary: chr16 : 1193241 - 1274772
Strand: plus

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. Antiarrhythmic Pathway, Pharmacodynamics
    Pharmacodynamic pathway of antiarrhythmic drugs in a stylized cardiac myocyte.
  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.

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 ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
celecoxib
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
mibefradil

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Epilepsy
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Hypertension

Publications related to CACNA1H: 3

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
A genome-wide association study of hypertension and blood pressure in African Americans. PLoS genetics. 2009. Adeyemo Adebowale, 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 and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. Circulation research. 1998. Cribbs L L, et al. PubMed

LinkOuts

NCBI Gene:
8912
OMIM:
607904
611942
UCSC Genome Browser:
NM_021098
RefSeq RNA:
NM_001005407
NM_021098
RefSeq Protein:
NP_001005407
NP_066921
RefSeq DNA:
NG_012647
NT_010393
HuGE:
CACNA1H
Comparative Toxicogenomics Database:
8912
ModBase:
O95180
IUPHAR Receptor:
Cav3.2 (536)
HGNC:
1395

Common Searches