Gene:
KCNJ11
potassium inwardly-rectifying channel, subfamily J, member 11

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 ?
rs5219

To see relevance please register or sign in.

2

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
No VIP available No Clinical Annotations available VA
rs5215
C > G
C > T
C > A
Missense
Val337Ile
rs5219 E23K, KCNJ11: Lys23Glu, KCNJ11:67A>G, KCNJ11:E23K, Lys23Glu, c.-16-179A>G, c.67A>G, g.17349572T>A, g.17349572T>C, g.17349572T>G, g.17366148T>C, g.5635A>G, p.Lys23Glu
T > G
T > A
T > C
Intronic
Lys23Glu
No VIP available No Clinical Annotations available VA
rs757110 c.4105G>T, g.17358477C>A, g.84973G>T, p.Ala1369Ser
C > G
C > T
C > A
Missense
Ala1369Ser
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP build 132

Overview

Alternate Names:  ATP-sensitive inward rectifier potassium channel 11; beta-cell inward rectifier subunit; inward rectifier K(+) channel Kir6.2; inwardly rectifying potassium channel KIR6.2; potassium channel inwardly rectifing subfamily J member 11; potassium channel, inwardly rectifying subfamily J member 11; potassium inwardly-rectifying channel J11
Alternate Symbols:  BIR; HHF2; IKATP; KIR6.2; Kir6.2; MGC133230; PHHI; TNDM3
PharmGKB Accession Id: PA217

Details

Cytogenetic Location: chr11 : p15.1 - p15.1
GP mRNA Boundary: chr11 : 17406795 - 17410206
GP Gene Boundary: chr11 : 17403795 - 17420206
Strand: minus
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. Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    Representation of anti-diabetic drugs repaglinide, nateglinide and sulfonylurea effects on insulin secretion in pancreatic cells.
  1. Antiarrhythmic Pathway, Pharmacodynamics
    Pharmacodynamic pathway of antiarrhythmic drugs in a stylized cardiac myocyte.

External Pathways

Links to non-PharmGKB pathways.

  1. FOXA2 and FOXA3 transcription factor networks - (Pathway Interaction Database NCI-Nature Curated)
  2. Glucose Regulation of Insulin Secretion - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

Curated Information ?

Publications related to KCNJ11: 23

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 antihypertensive response of iptakalim with KCNJ11 (Kir6.2 gene) polymorphisms in Chinese Han hypertensive patients. Acta pharmacologica Sinica. 2011. Duan Rui-feng, et al. [Article:21765448@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. American journal of human genetics. 2010. Ritchie Marylyn D, et al. [Article:20362271@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KCNJ11 Lys23Glu and TCF7L2 rs290487(C/T) polymorphisms affect therapeutic efficacy of repaglinide in Chinese patients with type 2 diabetes. Clinical pharmacology and therapeutics. 2010. Yu M, et al. [Article:20054294@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
ABCC8 polymorphism (Ser1369Ala): influence on severe hypoglycemia due to sulfonylureas. Pharmacogenomics. 2010. Sato Ryosuke, et al. [Article:21142918@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Influence of genetic polymorphisms on the pharmacokinetics and pharmaco-dynamics of sulfonylurea drugs. Current drug metabolism. 2009. Xu Hongmei, et al. [Article:19799532@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science (New York, N.Y.). 2009. Nejentsev Sergey, et al. [Article:19264985@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Clinical risk factors, DNA variants, and the development of type 2 diabetes. The New England journal of medicine. 2008. Lyssenko Valeriya, et al. [Article:19020324@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genotype score in addition to common risk factors for prediction of type 2 diabetes. The New England journal of medicine. 2008. Meigs James B, et al. [Article:19020323@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. American journal of human genetics. 2007. Ellard Sian, et al. [Article:17668386@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 glucose-lowering drug treatment: a systematic review. Molecular diagnosis & therapy. 2007. Bozkurt Ozlem, et al. [Article:17963417@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 type 2 diabetes in Finns detects multiple susceptibility variants. Science (New York, N.Y.). 2007. Scott Laura J, et al. [Article:17463248@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (New York, N.Y.). 2007. Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research, et al. [Article:17463246@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
The E23K variant of KCNJ11 encoding the pancreatic beta-cell adenosine 5'-triphosphate-sensitive potassium channel subunit Kir6.2 is associated with an increased risk of secondary failure to sulfonylurea in patients with type 2 diabetes. The Journal of clinical endocrinology and metabolism. 2006. Sesti Giorgio, et al. [Article:16595597@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Common variants in the ATP-sensitive K+ channel genes KCNJ11 (Kir6.2) and ABCC8 (SUR1) in relation to glucose intolerance: population-based studies and meta-analyses. Diabetic medicine : a journal of the British Diabetic Association. 2005. van Dam R M, et al. [Article:15842514@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes. Human genetics. 2005. Riedel Michael J, et al. [Article:15565284@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes. 2004. Florez Jose C, et al. [Article:15111507@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study. The Journal of clinical endocrinology and metabolism. 2004. Laukkanen Olli, et al. [Article:15579791@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes. 2003. Gloyn Anna L, et al. [Article:12540637@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes. Diabetes. 2003. Nielsen Eva-Maria D, et al. [Article:12540638@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The role of NH2-terminal positive charges in the activity of inward rectifier KATP channels. The Journal of general physiology. 2002. Cukras C A, et al. [Article:12198096@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53). Diabetic medicine : a journal of the British Diabetic Association. 2001. Gloyn A L, et al. [Article:11318841@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro. Diabetologia. 1996. Sakura H, et al. [Article:8897013@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. Science (New York, N.Y.). 1995. Inagaki N, et al. [Article:7502040@PubMed]
PharmGKB® is a registered trademark of HHS and is financially supported by NIH/NIGMS. It is managed at Stanford University (R24 GM61374).
©2001-2012 PharmGKB.