Gene:
KL
klotho

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.

List of all KL variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs211247 14562646G>C, 33582646G>C
G > C
Not Available
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA30130

Details

Cytogenetic Location: chr13 : q13.1 - q13.1
GP mRNA Boundary: chr13 : 33590571 - 33640282
GP Gene Boundary: chr13 : 33580571 - 33643282
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.
No related genes are available

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
Acute coronary syndrome

Publications related to KL: 3

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mutations in CYP24A1 and Idiopathic Infantile Hypercalcemia. The New England journal of medicine. 2011. Schlingmann Karl P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic polymorphisms and the cardiovascular risk of non-steroidal anti-inflammatory drugs. The American journal of cardiology. 2010. St Germaine Christine G, 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
HMG-CoA reductase inhibitors up-regulate anti-aging klotho mRNA via RhoA inactivation in IMCD3 cells. Cardiovascular research. 2004. Narumiya Hiromichi, et al. PubMed

LinkOuts

Entrez Gene:
9365
OMIM:
211900
604824
UCSC Genome Browser:
NM_004795
RefSeq RNA:
NM_004795
RefSeq Protein:
NP_004786
RefSeq DNA:
AC_000056
AC_000145
NC_000013
NG_011485
NT_024524
NW_001838072
NW_925473
UniProtKB:
KLOT_HUMAN (Q9UEF7)
Ensembl:
ENSG00000133116
GenAtlas:
KL
GeneCard:
KL
MutDB:
KL
ALFRED:
LO112623P
HuGE:
KL
Comparative Toxicogenomics Database:
9365
ModBase:
Q9UEF7
HumanCyc Gene:
HS05739
HGNC:
6344

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