Gene:
ATP7B
ATPase, Cu++ transporting, beta polypeptide

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
rs1061472 2009A>G, 2162A>G, 2495A>G, 33504488T>C, 52524488T>C, 66143A>G, Lys670Arg, Lys721Arg, Lys832Arg
A > T
A > C
Missense
Lys721Arg
No VIP available No Clinical Annotations available VA
rs7999812 1286-610T>G, 33525495A>C, 45136T>G, 52545495A>C, 953-610T>G
A > C
Intronic
No VIP available CA VA
rs9535826 24505A>C, 33546126T>G, 52-16822A>C, 52566126T>G
T > G
Intronic
No VIP available CA VA
rs9535828 17209C>T, 33553422G>A, 51+12001C>T, 52573422G>A
G > A
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  Wilson disease; copper pump 2; copper-transporting ATPase 2
Alternate Symbols:  None
PharmGKB Accession Id: PA73

Details

Cytogenetic Location: chr13 : q14.3 - q14.3
GP mRNA Boundary: chr13 : 52506805 - 52585630
GP Gene Boundary: chr13 : 52503805 - 52595630
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.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Platinum Pathway, Pharmacokinetics/Pharmacodynamics
    Representation of the candidate genes involved in the metabolism of platinum containing drugs.

External Pathways

Links to non-PharmGKB pathways.

PharmGKB contains no links to external pathways for this gene. To report a pathway, click here.

No related genes are available

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
Platinum compounds

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Lung Neoplasms

Publications related to ATP7B: 3

No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
The ATP7B genetic polymorphisms predict clinical outcome to platinum-based chemotherapy in lung cancer patients. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine. 2014. Li Xiang-Ping, 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
Resistance gene expression determines the in vitro chemosensitivity of non-small cell lung cancer (NSCLC). BMC cancer. 2009. Glaysher Sharon, 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 polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients. Drug metabolism and pharmacokinetics. 2009. Fukushima-Uesaka Hiromi, et al. PubMed

LinkOuts

Entrez Gene:
540
OMIM:
277900
606882
UCSC Genome Browser:
NM_000053
RefSeq RNA:
NM_000053
NM_001005918
RefSeq Protein:
NP_000044
NP_001005918
RefSeq DNA:
AC_000056
AC_000145
NC_000013
NG_008806
NT_024524
NW_001838074
NW_925473
UniProtKB:
ATP7B_HUMAN (P35670)
Ensembl:
ENSG00000123191
GenAtlas:
ATP7B
GeneCard:
ATP7B
MutDB:
ATP7B
ALFRED:
LO009949F
HuGE:
ATP7B
Comparative Toxicogenomics Database:
540
ModBase:
P35670
HumanCyc Gene:
HS04640
HGNC:
870

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