Gene:
ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1

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

PharmGKB contains no drug labels with pharmacogenomic information for this gene. To report a drug label with PGx, click here.

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.

Position ? Drug ? Relevance ? Strength of
Evidence ?
rs4343 sildenafil less likely to work 2
rs4343 spironolactone more likely to work 3

Download a summary of all Clinical Annotations available.

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

PharmGKB contains no genetic tests for this gene. To report genetic tests, click here.

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.

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

Variant?
(build 132)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
rs1799752 c.2306-119_2306-118ins50, c.584-119_584-118ins50, g.16457_16458ins50, g.26840042_26840043ins50 -/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC Not Available
No VIP available No Clinical Annotations available VA
rs4341 C/G Not Available
No VIP available CA VA
rs4343 ACE:2350A>G in exon 17, ACE:Thr202Thr, c.2328G>A, c.606G>A, g.16598G>A, g.26840183G>A, tag SNP for ACE:I/D G > A Not Available Thr202Thr
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP build 132

Overview

Alternate Names:  CD143 antigen; angiotensin I converting enzyme 1; angiotensin converting enzyme, somatic isoform; angiotensin-converting enzyme; carboxycathepsin; dipeptidyl carboxypeptidase 1; dipeptidyl carboxypeptidase 1 (angiotensin I converting enzyme); dipeptidyl carboxypeptidase I; kininase II; peptidase P; peptidyl-dipeptidase A; testicular ECA
Alternate Symbols:  ACE1; CD143; DCP; DCP1; MGC26566; MVCD3
PharmGKB Accession Id: PA139

Details

Cytogenetic Location: chr17 : q23.3 - q23.3
GP mRNA Boundary: chr17 : 61554434 - 61574979
GP Gene Boundary: chr17 : 61544434 - 61577979
Strand: plus
Product Name: No data available
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. ACE Inhibitor Pathway, Pharmacodynamics
    Model, non-tissue-specific cell displaying genes which may be involved in the ACE inhibitor pathway.
  1. Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    Genes involved in the pharmacodynamics of the drugs that act on the renin-angiotensin-aldosterone system.

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 ?

Gene Relationship Evidence
APP
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Publications

Non-Curated Information ?

A list of non-curated publications that mention this gene along with other genes is available.

Curated Information ?

Non-Curated Information ?

A list of non-curated publications that mention this gene along with other drugs is available.

Curated Information ?

Disease Relationship Evidence
Alcoholism
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Publications
Alzheimer Disease
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Publications, Variants
Angioedema
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Publications
Arrhythmias, Cardiac
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Publications
Arteriosclerosis
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Publications
Atrial Fibrillation
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Publications
Bipolar Disorder
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Publications
Brugada syndrome
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Publications
Cardiomyopathies
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Variants
Cardiomyopathy, Hypertrophic
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Publications
Cardiovascular Abnormalities
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Publications
Cardiovascular Diseases
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Publications
Congenital Abnormalities
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Publications
Coronary Artery Disease
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Publications
Coronary Disease
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Publications
Coronary Restenosis
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Publications
Cough
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Publications
Death, Sudden, Cardiac
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Publications
Dementia
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Publications
Diabetes Mellitus
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Publications
Diabetes Mellitus, Type 1
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Publications
Diabetes Mellitus, Type 2
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Publications
Dyskinesia, Drug-Induced
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Publications
Dystonia
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Publications
Erectile Dysfunction
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Variants
Fetal Death
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Publications
glomerular disease
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Publications
Glomerulonephritis
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Publications
Glomerulonephritis, IGA
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Publications
Glomerulosclerosis
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Publications
Heart Diseases
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Publications
Heart Failure
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Publications
Hypercholesterolemia
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Publications
Hypertension
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Publications
Hypertrophy, Left Ventricular
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Publications
Hypoglycemia
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Publications
Hypokinesia
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Publications
Hypotension
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Publications
Immune System Diseases
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Publications
Kidney Diseases
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Publications
Kidney Failure
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Publications
Long QT Syndrome
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Publications
Memory Disorders
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Publications
Metabolic Diseases
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Publications
Muscle Rigidity
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Publications
Myocardial Infarction
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Publications, Variants
Neoplasms
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Publications
Neurodegenerative Diseases
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Publications
nondiabetic proteinuric nephropathy
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Publications
Proteinuria
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Publications
Schizophrenia
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Publications
Stroke
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Publications
Sudden Infant Death
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Publications
Thromboembolism
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Publications
Torsades de Pointes
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Publications
Tremor
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Publications
venous thromboembolism
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Publications
Venous Thrombosis
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Publications
Ventricular Fibrillation
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Publications
visceral obesity
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Publications

Non-Curated Information ?

A list of non-curated publications that mention this gene along with other diseases is available.

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