Gene:
CD40
CD40 molecule, TNF receptor superfamily member 5

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 CD40 variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs4810485 14944039T>G, 44747947T>G, 51+914T>G, 6042T>G
T > G
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  TNFRSF5
Alternate Symbols:  Bp50; p50
PharmGKB Accession Id: PA36612

Details

Cytogenetic Location: chr20 : q12 - q13.2
GP mRNA Boundary: chr20 : 44746906 - 44758384
GP Gene Boundary: chr20 : 44736906 - 44761384
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. cd40l signaling pathway - (BioCarta via Pathway Interaction Database)
  2. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell - (Reactome via Pathway Interaction Database)
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 CD40: 5

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Human Genetics in Rheumatoid Arthritis Guides a High-Throughput Drug Screen of the CD40 Signaling Pathway. PLoS genetics. 2013. Li Gang, 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 of SNPs of CD40 gene with multiple sclerosis in Russians. PloS one. 2013. Sokolova Ekaterina Alekseevna, 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 No Variant Annotation available No VIP available No VIP available
CD40-1C>T polymorphism (rs1883832) is associated with brain vessel reocclusion after fibrinolysis in ischemic stroke. Pharmacogenomics. 2010. del Río-Espínola Alberto, et al. PubMed

LinkOuts

Entrez Gene:
958
OMIM:
109535
606843
UCSC Genome Browser:
NM_001250
RefSeq RNA:
NM_001250
NM_152854
RefSeq Protein:
NP_001241
NP_690593
RefSeq DNA:
AC_000063
AC_000152
NC_000020
NG_007279
NT_011362
NW_001838666
NW_927339
UniProtKB:
TNR5_HUMAN (P25942)
Ensembl:
ENSG00000101017
GenAtlas:
CD40
GeneCard:
CD40
MutDB:
CD40
ALFRED:
LO011439S
HuGE:
CD40
Comparative Toxicogenomics Database:
958
ModBase:
P25942
HumanCyc Gene:
HS02183
HGNC:
11919

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