Gene:
PTPN22
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)

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 PTPN22 variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs2476601 114377568A>A, 114377568A>G, 1693C>C, 1693C>T, 1858C>C, 1858C>T, 41808C>C, 41808C>T, 84349486A>A, 84349486A>G, Arg565=, Arg620=
A > G
Missense
Arg620Trp
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  PTPN8
Alternate Symbols:  Lyp; Lyp1; Lyp2
PharmGKB Accession Id: PA33995

Details

Cytogenetic Location: chr1 : p13.2 - p13.2
GP mRNA Boundary: chr1 : 114356433 - 114414375
GP Gene Boundary: chr1 : 114353433 - 114424375
Strand: minus
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
Arthritis, Rheumatoid

Publications related to PTPN22: 12

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
TGF beta1 polymorphisms are candidate predictors of the clinical response to rituximab in rheumatoid arthritis. Joint, bone, spine : revue du rhumatisme. 2012. Daïen Claire Immediato, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Association of Rheumatoid Arthritis Risk Alleles with Response to Anti-TNF Biologics: Results from the CORRONA Registry and Meta-analysis. Inflammation. 2012. Pappas Dimitrios A, 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
Most common SNPs associated with rheumatoid arthritis in subjects of European ancestry confer risk of rheumatoid arthritis in African-Americans. Arthritis and rheumatism. 2010. Hughes Laura B, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
A genetic marker at the OLIG3/TNFAIP3 locus associates with methotrexate continuation in early inflammatory polyarthritis: results from the Norfolk Arthritis Register. The pharmacogenomics journal. 2010. Plant 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
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. The New England journal of medicine. 2010. Jin Ying, 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
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. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. American journal of human genetics. 2007. Zhernakova Alexandra, 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
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. The New England journal of medicine. 2007. Plenge Robert M, 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 R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. Genes and immunity. 2005. Reddy M V Prasad Linga, 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
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nature genetics. 2005. Vang Torkel, 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 between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene. Arthritis and rheumatism. 2005. Hinks Anne, et al. PubMed

LinkOuts

Entrez Gene:
26191
OMIM:
152700
180300
222100
600716
UCSC Genome Browser:
NM_012411
RefSeq RNA:
NM_001193431
NM_012411
NM_015967
RefSeq Protein:
NP_001180360
NP_036543
NP_057051
MutDB:
PTPN22
HuGE:
PTPN22
Comparative Toxicogenomics Database:
26191
ModBase:
Q9Y2R2
HumanCyc Gene:
HS05837
HGNC:
9652

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