Gene:
SCNN1A
sodium channel, non-voltage-gated 1 alpha 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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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
rs2228576 1987A>G, 2056A>G, 2164A>G, 34462A>G, 6397062T>C, 6457062T>C, Thr663Ala, Thr686Ala, Thr722Ala
T > C
Missense
Thr722Ala
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  ENaCalpha
PharmGKB Accession Id: PA305

Details

Cytogenetic Location: chr12 : p13.31 - p13.31
GP mRNA Boundary: chr12 : 6456009 - 6486523
GP Gene Boundary: chr12 : 6453009 - 6496523
Strand: minus
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. Diuretics Pathway, Pharmacodynamics
    Diagrammatic representation of candidate genes involved in the pharmacodynamics of diuretics in a stylized kidney cell.
  1. Glucocorticoid Pathway - Transcription Regulation, Pharmacodynamics
    Model displaying genes which may be involved in the nuclear complex formed that regulates transcription in response to glucocorticoids.

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
NEDD4L
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
WNK1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
WNK4

Curated Information ?

Curated Information ?

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

Publications related to SCNN1A: 5

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
WNK kinases and the kidney. Experimental cell research. 2012. Hoorn Ewout J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study. Journal of hypertension. 2010. Irvin Marguerite R, 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 genetics of loop diuretic effects. The pharmacogenomics journal. 2010. Vormfelde S V, 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
Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs. Clinical pharmacology and therapeutics. 2007. Vormfelde S V, 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 gene expression of the amiloride-sensitive epithelial sodium channel alpha-subunit is regulated by antagonistic effects between glucocorticoid hormone and ras pathways in salivary epithelial cells. The Journal of biological chemistry. 1999. Lin H H, et al. PubMed

LinkOuts

UniProtKB:
B4E2Q5_HUMAN (B4E2Q5)
SCNNA_HUMAN (P37088)
Ensembl:
ENSG00000111319
GenAtlas:
SCNN1A
GeneCard:
SCNN1A
MutDB:
SCNN1A
ALFRED:
LO000599X
HuGE:
SCNN1A
Comparative Toxicogenomics Database:
6337
ModBase:
P37088
HumanCyc Gene:
HS03398
HGNC:
10599

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