Gene:
ALDH2
aldehyde dehydrogenase 2 family (mitochondrial)

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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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 Variant in ALDH2
Variant in ALDH2 N/A N/A N/A
No VIP available No Clinical Annotations available VA
rs671 112241766G>A, 1369G>A, 1510G>A, 2818296G>A, 42421G>A, Glu457Lys, Glu504Lys
G > A
Missense
Glu457Lys
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA24696

Details

Cytogenetic Location: chr12 : q24.12 - q24.12
GP mRNA Boundary: chr12 : 112204691 - 112247789
GP Gene Boundary: chr12 : 112194691 - 112250789
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. Cyclophosphamide Pathway, Pharmacodynamics
    Model non-tissue-specific cancer cell displaying genes which may be involved in the cyclophosphamide pathway.
  1. Ifosfamide Pathway, Pharmacodynamics
    Model non-tissue specific cancer cell displaying genes which may be involved in the ifosfamide pathway.

External Pathways

Links to non-PharmGKB pathways.

  1. Acetaldehyde is oxidized by NAD+ to form acetate, NADH, and H+ - (Reactome via Pathway Interaction Database)
  2. Metabolism of serotonin - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
ethanol
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
heroin

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Heroin Dependence

Publications related to ALDH2: 15

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
ALDH2*2 but not ADH1B*2 is a causative variant gene allele for Asian alcohol flushing after a low-dose challenge: correlation of the pharmacokinetic and pharmacodynamic findings. Pharmacogenetics and genomics. 2014. Peng Giia-Sheun, 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
PharmGKB summary: ifosfamide pathways, pharmacokinetics and pharmacodynamics. Pharmacogenetics and genomics. 2014. Lowenberg Daniella, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Population pharmacokinetics and pharmacogenetics of alcohol in Chinese and Indians in Singapore. Journal of clinical pharmacy and therapeutics. 2013. Seng K Y, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
The aldehyde dehydrogenase 2 gene is associated with heroin dependence. Drug and alcohol dependence. 2011. Wang Tzu-Yun, 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
Breaking Barriers in the Genomics and Pharmacogenetics of Drug Addiction. Clinical pharmacology and therapeutics. 2010. Ho M K, 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
DNATwist: a Web-based tool for teaching middle and high school students about pharmacogenomics. Clinical pharmacology and therapeutics. 2010. Berlin D S, 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 aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature. Pharmacogenetics and genomics. 2009. Black William J, 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
Pharmacokinetic and pharmacodynamic basis for overcoming acetaldehyde-induced adverse reaction in Asian alcoholics, heterozygous for the variant ALDH2*2 gene allele. Pharmacogenetics and genomics. 2009. Chen Yi-Chyan, 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
Effects of 5-week ethanol feeding on the liver of aldehyde dehydrogenase 2 knockout mice. Pharmacogenetics and genomics. 2008. Matsumoto Akiko, 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
Activation of aldehyde dehydrogenase-2 reduces ischemic damage to the heart. Science (New York, N.Y.). 2008. Chen Che-Hong, 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
Pharmacokinetic and pharmacodynamic basis for partial protection against alcoholism in Asians, heterozygous for the variant ALDH2*2 gene allele. Pharmacogenetics and genomics. 2007. Peng Giia-Sheun, 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
Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence. American journal of human genetics. 2006. Luo Xingguang, 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
Aldehyde dehydrogenase 2 plays a role in the bioactivation of nitroglycerin in humans. Arteriosclerosis, thrombosis, and vascular biology. 2005. Mackenzie Isla S, 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
Effects on sister chromatid exchange frequency of aldehyde dehydrogenase 2 genotype and smoking in vinyl chloride workers. Mutation research. 1998. Wong R 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
Polymorphism of alcohol-metabolizing genes affects drinking behavior and alcoholic liver disease in Japanese men. Alcoholism, clinical and experimental research. 1997. Tanaka F, et al. PubMed

LinkOuts

Entrez Gene:
217
OMIM:
100650
610251
UCSC Genome Browser:
NM_000690
RefSeq RNA:
NM_000690
NM_001204889
RefSeq Protein:
NP_000681
NP_001191818
RefSeq DNA:
AC_000055
AC_000144
NC_000012
NG_012250
NT_009775
NW_001838063
NW_925395
UniProtKB:
ALDH2_HUMAN (P05091)
Ensembl:
ENSG00000111275
GenAtlas:
ALDH2
GeneCard:
ALDH2
MutDB:
ALDH2
ALFRED:
LO000418N
HuGE:
ALDH2
Comparative Toxicogenomics Database:
217
ModBase:
P05091
HumanCyc Gene:
HS03395
HGNC:
404

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