ATPase, Cu++ transporting, beta polypeptide

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.

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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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 variant annotations for ATP7B

Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
No VIP available CA VA
rs1061472 NC_000013.10:g.52524488T>C, NC_000013.11:g.51950352T>C, NG_008806.1:g.66143A>G, NM_000053.3:c.2495A>G, NM_001005918.2:c.2009A>G, NM_001243182.1:c.2162A>G, NP_000044.2:p.Lys832Arg, NP_001005918.1:p.Lys670Arg, NP_001230111.1:p.Lys721Arg, XM_005266423.1:c.2399A>G, XM_005266423.2:c.2399A>G, XM_005266424.1:c.2399A>G, XM_005266424.3:c.2399A>G, XM_005266425.1:c.2351A>G, XM_005266426.1:c.2495A>G, XM_005266427.1:c.2261A>G, XM_005266427.2:c.2261A>G, XM_005266428.1:c.2243A>G, XM_005266429.1:c.2495A>G, XM_005266430.1:c.2495A>G, XM_005266430.3:c.2495A>G, XM_005266431.1:c.2459A>G, XM_005266431.2:c.2459A>G, XM_005266432.1:c.2009A>G, XM_005266432.2:c.2009A>G, XM_005266433.1:c.1286-191A>G, XM_005266434.1:c.779A>G, XM_006719837.2:c.2399A>G, XM_006719838.1:c.311A>G, XM_006719839.1:c.311A>G, XM_011535117.1:c.2399A>G, XM_011535118.1:c.2495A>G, XM_011535119.1:c.2495A>G, XM_011535120.1:c.2081A>G, XM_011535121.1:c.2495A>G, XM_011535122.1:c.1163A>G, XP_005266480.1:p.Lys800Arg, XP_005266481.1:p.Lys800Arg, XP_005266482.1:p.Lys784Arg, XP_005266483.1:p.Lys832Arg, XP_005266484.1:p.Lys754Arg, XP_005266485.1:p.Lys748Arg, XP_005266486.1:p.Lys832Arg, XP_005266487.1:p.Lys832Arg, XP_005266488.1:p.Lys820Arg, XP_005266489.1:p.Lys670Arg, XP_005266491.1:p.Lys260Arg, XP_006719900.1:p.Lys800Arg, XP_006719901.1:p.Lys104Arg, XP_006719902.1:p.Lys104Arg, XP_011533419.1:p.Lys800Arg, XP_011533420.1:p.Lys832Arg, XP_011533421.1:p.Lys832Arg, XP_011533422.1:p.Lys694Arg, XP_011533423.1:p.Lys832Arg, XP_011533424.1:p.Lys388Arg, XR_245388.1:n.2714A>G, XR_941601.1:n.2714A>G, XR_941602.1:n.2714A>G, XR_941603.1:n.2714A>G, XR_941604.1:n.2714A>G, rs117058075, rs17435026, rs3202569, rs386514561, rs52815103, rs59677013
T > C
No VIP available CA VA
rs1801249 NC_000013.10:g.52515354A>G, NC_000013.11:g.51941218A>G, NG_008806.1:g.75277T>C, NM_000053.3:c.3419T>C, NM_001005918.2:c.2798T>C, NM_001243182.1:c.3086T>C, NP_000044.2:p.Val1140Ala, NP_001005918.1:p.Val933Ala, NP_001230111.1:p.Val1029Ala, XM_005266423.1:c.3323T>C, XM_005266423.2:c.3323T>C, XM_005266424.1:c.3323T>C, XM_005266424.3:c.3323T>C, XM_005266425.1:c.3275T>C, XM_005266426.1:c.3224T>C, XM_005266427.1:c.3185T>C, XM_005266427.2:c.3185T>C, XM_005266428.1:c.3167T>C, XM_005266429.1:c.3089T>C, XM_005266430.1:c.3419T>C, XM_005266430.3:c.3419T>C, XM_005266431.1:c.3383T>C, XM_005266431.2:c.3383T>C, XM_005266432.1:c.2933T>C, XM_005266432.2:c.2933T>C, XM_005266433.1:c.2129T>C, XM_005266434.1:c.1703T>C, XM_006719837.2:c.3323T>C, XM_006719838.1:c.1235T>C, XM_006719839.1:c.1052T>C, XM_011535117.1:c.3323T>C, XM_011535118.1:c.3284T>C, XM_011535119.1:c.3236T>C, XM_011535120.1:c.3005T>C, XM_011535121.1:c.2906T>C, XM_011535122.1:c.2087T>C, XP_005266480.1:p.Val1108Ala, XP_005266481.1:p.Val1108Ala, XP_005266482.1:p.Val1092Ala, XP_005266483.1:p.Val1075Ala, XP_005266484.1:p.Val1062Ala, XP_005266485.1:p.Val1056Ala, XP_005266486.1:p.Val1030Ala, XP_005266487.1:p.Val1140Ala, XP_005266488.1:p.Val1128Ala, XP_005266489.1:p.Val978Ala, XP_005266490.1:p.Val710Ala, XP_005266491.1:p.Val568Ala, XP_006719900.1:p.Val1108Ala, XP_006719901.1:p.Val412Ala, XP_006719902.1:p.Val351Ala, XP_011533419.1:p.Val1108Ala, XP_011533420.1:p.Val1095Ala, XP_011533421.1:p.Val1079Ala, XP_011533422.1:p.Val1002Ala, XP_011533423.1:p.Val969Ala, XP_011533424.1:p.Val696Ala, XR_245388.1:n.3638T>C, XR_941601.1:n.3638T>C, XR_941602.1:n.3638T>C, XR_941603.1:n.3638T>C, XR_941604.1:n.3638T>C, rs117589027, rs17479059, rs2277446, rs52833397, rs61425710
A > G
No VIP available No Clinical Annotations available VA
rs7999812 NC_000013.10:g.52545495A>C, NC_000013.11:g.51971359A>C, NG_008806.1:g.45136T>G, NM_000053.3:c.1286-610T>G, NM_001005918.2:c.1286-610T>G, NM_001243182.1:c.953-610T>G, XM_005266423.1:c.1190-610T>G, XM_005266423.2:c.1190-610T>G, XM_005266424.1:c.1190-610T>G, XM_005266424.3:c.1190-610T>G, XM_005266425.1:c.1286-610T>G, XM_005266426.1:c.1286-610T>G, XM_005266427.1:c.1286-610T>G, XM_005266427.2:c.1286-610T>G, XM_005266428.1:c.1286-610T>G, XM_005266429.1:c.1286-610T>G, XM_005266430.1:c.1286-610T>G, XM_005266430.3:c.1286-610T>G, XM_005266431.1:c.1250-610T>G, XM_005266431.2:c.1250-610T>G, XM_005266432.1:c.1286-610T>G, XM_005266432.2:c.1286-610T>G, XM_005266433.1:c.1285+2576T>G, XM_005266434.1:c.-877T>G, XM_006719837.2:c.1190-610T>G, XM_011535117.1:c.1190-610T>G, XM_011535118.1:c.1286-610T>G, XM_011535119.1:c.1286-610T>G, XM_011535120.1:c.1286-610T>G, XM_011535121.1:c.1286-610T>G, XM_011535122.1:c.-47-610T>G, XR_245388.1:n.1505-610T>G, XR_941601.1:n.1505-610T>G, XR_941602.1:n.1505-610T>G, XR_941603.1:n.1505-610T>G, XR_941604.1:n.1505-610T>G
A > C
No VIP available CA VA
rs9535826 NC_000013.10:g.52566126T>G, NC_000013.11:g.51991990T>G, NG_008806.1:g.24505A>C, NM_000053.3:c.52-16822A>C, NM_001005918.2:c.52-16822A>C, NM_001243182.1:c.52-16822A>C, XM_005266425.1:c.52-16822A>C, XM_005266426.1:c.52-16822A>C, XM_005266427.1:c.52-16822A>C, XM_005266427.2:c.52-16822A>C, XM_005266428.1:c.52-16822A>C, XM_005266429.1:c.52-16822A>C, XM_005266430.1:c.52-16822A>C, XM_005266430.3:c.52-16822A>C, XM_005266431.1:c.15+3324A>C, XM_005266431.2:c.15+3324A>C, XM_005266432.1:c.52-16822A>C, XM_005266432.2:c.52-16822A>C, XM_005266433.1:c.52-16822A>C, XM_011535117.1:c.-46+14518A>C, XM_011535118.1:c.52-16822A>C, XM_011535119.1:c.52-16822A>C, XM_011535120.1:c.52-16822A>C, XM_011535121.1:c.52-16822A>C, XR_245388.1:n.271-16822A>C, XR_941601.1:n.271-16822A>C, XR_941602.1:n.271-16822A>C, XR_941603.1:n.271-16822A>C, XR_941604.1:n.271-16822A>C, rs61446037
T > G
No VIP available CA VA
rs9535828 NC_000013.10:g.52573422G>A, NC_000013.11:g.51999286G>A, NG_008806.1:g.17209C>T, NM_000053.3:c.51+12001C>T, NM_001005918.2:c.51+12001C>T, NM_001243182.1:c.51+12001C>T, XM_005266425.1:c.51+12001C>T, XM_005266426.1:c.51+12001C>T, XM_005266427.1:c.51+12001C>T, XM_005266427.2:c.51+12001C>T, XM_005266428.1:c.51+12001C>T, XM_005266429.1:c.51+12001C>T, XM_005266430.1:c.51+12001C>T, XM_005266430.3:c.51+12001C>T, XM_005266432.1:c.51+12001C>T, XM_005266432.2:c.51+12001C>T, XM_005266433.1:c.51+12001C>T, XM_011535117.1:c.-46+7222C>T, XM_011535118.1:c.51+12001C>T, XM_011535119.1:c.51+12001C>T, XM_011535120.1:c.51+12001C>T, XM_011535121.1:c.51+12001C>T, XR_245388.1:n.270+12001C>T, XR_941601.1:n.270+12001C>T, XR_941602.1:n.270+12001C>T, XR_941603.1:n.270+12001C>T, XR_941604.1:n.270+12001C>T
G > A
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147


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


Cytogenetic Location: chr13 : q14.3 - q14.3
GP mRNA Boundary: chr13 : 52506805 - 52586181
GP Gene Boundary: chr13 : 52503805 - 52596181
Strand: minus


UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
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.
No related genes are available

Curated Information ?

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

Curated Information ?

Publications related to ATP7B: 6

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenomics of platinum-based chemotherapy sensitivity in NSCLC: toward precision medicine. Pharmacogenomics. 2016. Yin Ji-Ye, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Carboplatin/taxane-induced gastrointestinal toxicity: a pharmacogenomics study on the SCOTROC1 trial. The pharmacogenomics journal. 2015. He Y 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
Pharmacokinetics and pharmacogenomics of daunorubicin in children: a report from the Children's Oncology Group. Cancer chemotherapy and pharmacology. 2014. Thompson Patrick, et al. PubMed
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


NCBI Gene:
UCSC Genome Browser:
RefSeq RNA:
RefSeq Protein:
RefSeq DNA:
ATP7B_HUMAN (P35670)
Comparative Toxicogenomics Database:
HumanCyc Gene:

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