Gene:
GNAS
GNAS complex locus

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.

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 GNAS

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
rs62205366 NC_000020.10:g.57478193T>C, NC_000020.11:g.58903138T>C, NG_016194.1:g.68399T>C, NM_000516.5:c.258-393T>C, NM_001077488.3:c.258-390T>C, NM_001077489.3:c.213-393T>C, NM_001077490.2:c.*119-393T>C, NM_001309840.1:c.81-393T>C, NM_001309861.1:c.81-393T>C, NM_016592.3:c.*161-390T>C, NM_080425.3:c.2187-393T>C, NM_080426.3:c.213-390T>C, NR_003259.1:n.348-393T>C, XM_005260396.1:c.201-393T>C, XM_005260397.1:c.162-393T>C, XM_005260398.1:c.117-393T>C, XM_005260399.1:c.36-393T>C, XM_005260400.1:c.36-393T>C, XM_005260401.1:c.36-393T>C, XM_005260402.1:c.81-390T>C, XR_244140.1:n.1305-390T>C
T > C
SNP
rs7121 NC_000020.10:g.57478807C>T, NC_000020.11:g.58903752C>T, NG_016194.1:g.69013C>T, NM_000516.5:c.393C>T, NM_001077488.3:c.396C>T, NM_001077489.3:c.348C>T, NM_001077490.2:c.*254C>T, NM_001309840.1:c.216C>T, NM_001309861.1:c.216C>T, NM_016592.3:c.*299C>T, NM_080425.3:c.2322C>T, NM_080426.3:c.351C>T, NP_000507.1:p.Ile131=, NP_001070956.1:p.Ile132=, NP_001070957.1:p.Ile116=, NP_001296769.1:p.Ile72=, NP_001296790.1:p.Ile72=, NP_536350.2:p.Ile774=, NP_536351.1:p.Ile117=, NR_003259.1:n.483C>T, XM_005260396.1:c.336C>T, XM_005260397.1:c.297C>T, XM_005260398.1:c.252C>T, XM_005260399.1:c.171C>T, XM_005260400.1:c.171C>T, XM_005260401.1:c.171C>T, XM_005260402.1:c.219C>T, XP_005260453.1:p.Ile112=, XP_005260454.1:p.Ile99=, XP_005260455.1:p.Ile84=, XP_005260456.1:p.Ile57=, XP_005260457.1:p.Ile57=, XP_005260458.1:p.Ile57=, XP_005260459.1:p.Ile73=, XR_244140.1:n.1443C>T, rs1053389, rs17829840, rs3171206, rs3730167, rs61041002
C > -
C > T
SNP
I131I
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  GNAS1; secretogranin VI
Alternate Symbols:  GNASXL; GPSA; NESP; NESP55; SCG6
PharmGKB Accession Id: PA175

Details

Cytogenetic Location: chr20 : q13.32 - q13.32
GP mRNA Boundary: chr20 : 57414756 - 57486250
GP Gene Boundary: chr20 : 57404756 - 57489250
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. Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
    Simplified pharmacodynamic pathway of drug action on beta 2 adrenergic receptor in a stylized airway cell.
  1. Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
    Effects of antiplatelet drugs on platelet aggregation pathway.
  1. Proton Pump Inhibitor Pathway, Pharmacodynamics
    Genes involved in the proton pump activation and trafficking.
  1. Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics
    Genes involved in serotonin synthesis, release, reuptake, and in mediation of the antidepressant effect of selective serotonin reuptake inhibitors (SSRI) in human brain.

Curated Information ?

Curated Information ?

Curated Information ?

Publications related to GNAS: 15

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Role of solute carrier transporters in pancreatic cancer: a review. Pharmacogenomics. 2014. Lemstrová Radmila, 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 pharmacogenomic variation of antihypertensive drugs: from population genetics to personalized medicine. Pharmacogenomics. 2014. Polimanti Renato, 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
SNPs in genes encoding G proteins in pharmacogenetics. Pharmacogenomics. 2011. Klenke Stefanie, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Effect of 393T>C polymorphism of GNAS1 gene on dobutamine response in Chinese healthy subjects. Journal of clinical pharmacology. 2009. Mao Yan-Mei, 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 T393C polymorphism of the Galphas gene (GNAS1) is associated with the course of Graves' disease. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme. 2009. Glowacka D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
GNAS1 T393C polymorphism is associated with histopathological response to neoadjuvant radiochemotherapy in esophageal cancer. The pharmacogenomics journal. 2009. Alakus 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
A novel promoter polymorphism in the human gene GNAS affects binding of transcription factor upstream stimulatory factor 1, Galphas protein expression and body weight regulation. Pharmacogenetics and genomics. 2008. Frey Ulrich 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
The consensus coding sequences of human breast and colorectal cancers. Science (New York, N.Y.). 2006. Sjöblom Tobias, 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
Molecular mechanisms of beta(2)-adrenergic receptor function, response, and regulation. The Journal of allergy and clinical immunology. 2006. Johnson Malcolm. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Candidate genes for antidepressant response to selective serotonin reuptake inhibitors. Neuropsychiatric disease and treatment. 2005. Lotrich Francis 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
Complex haplotype structure of the human GNAS gene identifies a recombination hotspot centred on a single nucleotide polymorphism widely used in association studies. Pharmacogenetics. 2004. Yang Wanling, 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
Pharmacogenetics of antihypertensive drug responses. American journal of pharmacogenomics : genomics-related research in drug development and clinical practice. 2004. Schwartz Gary L, 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
Deletion polymorphism in the coding region of the human NESP55 alternative transcript of GNAS1. Molecular and cellular probes. 2000. Kim S 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
Association of the G(s)alpha gene with essential hypertension and response to beta-blockade. Hypertension. 1999. Jia 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
Switching of the coupling of the beta2-adrenergic receptor to different G proteins by protein kinase A. Nature. 1997. Daaka Y, et al. PubMed