Gene:
SLC22A4
solute carrier family 22 (organic cation/ergothioneine transporter), member 4

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 contains no drug labels with pharmacogenomic information for this . 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.

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 CA VA
rs1050152 131676320C>T, 1507C>T, 39990192C>T, 51176C>T, 560-5701G>A, SLC22A4: L305F, SLC22A4: L503F
C > T
Intronic
Leu503Phe
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  MGC34546; OCTN1
PharmGKB Accession Id: PA332

Details

Cytogenetic Location: chr5 : q31.1 - q31.1
GP mRNA Boundary: chr5 : 131630145 - 131679899
GP Gene Boundary: chr5 : 131620145 - 131682899
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 ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
busulfan
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
imatinib

Curated Information ?

Publications related to SLC22A4: 7

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Effect of genetic variants GSTA1 and CYP39A1 and age on busulfan clearance in pediatric patients undergoing hematopoietic stem cell transplantation. Pharmacogenomics. 2013. Ten Brink Marloes H, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy. Pharmacological research : the official journal of the Italian Pharmacological Society. 2013. Angelini Sabrina, 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
Modulation of drug block of the cardiac potassium channel KCNA5 by the drug transporters OCTN1 and MDR1. British journal of pharmacology. 2010. Yang Tao, 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
Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5). The Journal of pharmacology and experimental therapeutics. 2009. Tahara Harunobu, 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 proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation. PloS one. 2009. Hesselson Stephanie 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
SLC22A4 polymorphism and rheumatoid arthritis susceptibility: a replication study in a Japanese population and a metaanalysis. The Journal of rheumatology. 2008. Okada Yukinori, 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
Effects of genetic variation in the novel organic cation transporter, OCTN1, on the renal clearance of gabapentin. Clinical pharmacology and therapeutics. 2008. Urban T J, et al. PubMed

LinkOuts

Entrez Gene:
6583
OMIM:
180300
266600
604190
UCSC Genome Browser:
NM_003059
RefSeq RNA:
NM_003059
RefSeq Protein:
NP_003050
RefSeq DNA:
AC_000048
AC_000137
NC_000005
NG_012129
NT_034772
NW_001838952
NW_922784
UniProtKB:
S22A4_HUMAN (Q9H015)
Ensembl:
ENSG00000197208
GenAtlas:
SLC22A4
GeneCard:
SLC22A4
MutDB:
SLC22A4
ALFRED:
LO033295W
HuGE:
SLC22A4
Comparative Toxicogenomics Database:
6583
ModBase:
Q9H015
HumanCyc Gene:
HS01078
HGNC:
10968

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