Gene:
IL7R
interleukin 7 receptor

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.

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
rs6897932 22585C>T, 35864575C>T, 35874575C>T, 731C>T, IL7R: T244I, Thr244Ile
C > T
Missense
Thr244Ile
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  CD127
PharmGKB Accession Id: PA29840

Details

Cytogenetic Location: chr5 : p13.2 - p13.2
GP mRNA Boundary: chr5 : 35856991 - 35876924
GP Gene Boundary: chr5 : 35846991 - 35879924
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
glatiramer acetate

Curated Information ?

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

Publications related to IL7R: 7

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Allelic combinations of immune-response genes associated with glatiramer acetate treatment response in Russian multiple sclerosis patients. Pharmacogenomics. 2012. Tsareva Ekaterina Y, et al. 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. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL7RA polymorphisms and susceptibility to multiple sclerosis. The New England journal of medicine. 2008. O'Doherty Catherine, 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 scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nature genetics. 2007. Wellcome Trust Case Control Consortium, 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
Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nature genetics. 2007. Gregory Simon 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
Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis. Nature genetics. 2007. Lundmark Frida, 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
Risk alleles for multiple sclerosis identified by a genomewide study. The New England journal of medicine. 2007. International Multiple Sclerosis Genetics Consortium, et al. PubMed

LinkOuts

Entrez Gene:
3575
OMIM:
126200
146661
600802
608971
UCSC Genome Browser:
NM_002185
RefSeq RNA:
NM_002185
RefSeq Protein:
NP_002176
RefSeq DNA:
AC_000048
AC_000137
NC_000005
NG_009567
NT_006576
NW_001838933
NW_922596
UniProtKB:
IL7RA_HUMAN (P16871)
Ensembl:
ENSG00000168685
GenAtlas:
IL7R
GeneCard:
IL7R
MutDB:
IL7R
ALFRED:
LO015052N
HuGE:
IL7R
Comparative Toxicogenomics Database:
3575
ModBase:
Q6NWM3
HumanCyc Gene:
HS09805
HGNC:
6024

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