Gene:
CTLA4
cytotoxic T-lymphocyte-associated protein 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 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.

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 No Clinical Annotations available VA
rs231775 204732714A>G, 49A>G, 5206A>G, 54942132A>G, CTLA4:A49G, Thr17Ala
A > G
Missense
Thr17Ala
No VIP available No Clinical Annotations available VA
rs3087243 *1384G>A, *1421G>A, 11411G>A, 204738919G>A, 54948337G>A
G > A
3' Flanking
No VIP available CA VA
rs4553808 -1661A>G, 204731005A>G, 3497A>G, 54940423A>G
A > G
5' Flanking
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  CELIAC3; IDDM12
Alternate Symbols:  CD; CD152; CD28; GSE; ICOS
PharmGKB Accession Id: PA27006

Details

Cytogenetic Location: chr2 : q33.2 - q33.2
GP mRNA Boundary: chr2 : 204732511 - 204738683
GP Gene Boundary: chr2 : 204722511 - 204741683
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.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Calcineurin-regulated NFAT-dependent transcription in lymphocytes - (Pathway Interaction Database NCI-Nature Curated)
  2. the co-stimulatory signal during t-cell activation - (BioCarta via Pathway Interaction Database)
No related genes are available

Curated Information ?

Curated Information ?

Publications related to CTLA4: 11

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Cytotoxic T-lymphocyte antigen 4 gene polymorphism influences the incidence of symptomatic human cytomegalovirus infection after renal transplantation. Pharmacogenetics and genomics. 2014. Misra Maneesh K, 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
Meta-analysis in granulomatosis with polyangiitis reveals shared susceptibility loci with rheumatoid arthritis. Arthritis and rheumatism. 2012. Chung Sharon A, et al. PubMed
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
Pharmacogenetics of efficacy and safety of HCV treatment in HCV-HIV coinfected patients: significant associations with IL28B and SOCS3 gene variants. PloS one. 2012. Vidal Francesc, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Genetic variation associated with bortezomib-induced peripheral neuropathy. Pharmacogenetics and genomics. 2011. Favis Reyna, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA 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 No Variant Annotation available No VIP available No VIP available
Shared and distinct genetic variants in type 1 diabetes and celiac disease. The New England journal of medicine. 2008. Smyth Deborah J, 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
A multilocus model of the genetic architecture of autoimmune thyroid disorder, with clinical implications. American journal of human genetics. 2008. Vieland Veronica J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Possible association of CTLA-4 gene polymorphism with cyclosporine-induced gingival overgrowth in kidney transplant recipients. Transplantation proceedings. 2007. Kusztal 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
STAT3 polymorphism predicts interferon-alfa response in patients with metastatic renal cell carcinoma. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2007. Ito Noriyuki, et al. PubMed

LinkOuts

UniProtKB:
O95653_HUMAN (O95653)
CTLA4_HUMAN (P16410)
Ensembl:
ENSG00000163599
GenAtlas:
CTLA4
GeneCard:
CTLA4
MutDB:
CTLA4
ALFRED:
LO187541A
HuGE:
CTLA4
Comparative Toxicogenomics Database:
1493
ModBase:
P16410
HumanCyc Gene:
HS08888
HGNC:
2505

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