Gene:
ABCB11
ATP-binding cassette, sub-family B (MDR/TAP), member 11

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.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs11568367 169826592T>C, 1772A>G, 20036010T>C, 66242A>G, Asn591Ser
T > C
Missense
Asn591Ser
No VIP available No Clinical Annotations available VA
rs2287622 1331T>A, 1331T>C, 1331T>G, 169830328A>C, 169830328A>G, 169830328A>T, 20039746A>C, 20039746A>G, 20039746A>T, 62506T>A, 62506T>C, 62506T>G, Val444Ala, Val444Asp, Val444Gly
A > T
A > C
A > G
Missense
Val444Gly
Val444Ala
Val444Asp
No VIP available No Clinical Annotations available VA
rs4148777 169869901A>G, 20079319A>G, 22933T>C, 270T>C, Phe90=
A > G
Synonymous
Phe90Phe
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  ABC member 16, MDR/TAP subfamily
Alternate Symbols:  ABC16; PFIC-2; PGY4; SPGP
PharmGKB Accession Id: PA374

Details

Cytogenetic Location: chr2 : q31.1 - q31.1
GP mRNA Boundary: chr2 : 169779449 - 169887833
GP Gene Boundary: chr2 : 169776449 - 169897833
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. Pravastatin Pathway, Pharmacokinetics
    Drug-specific representation of the candidate genes involved in transport, metabolism and clearance.
  1. Rosuvastatin Pathway, Pharmacokinetics
    Drug-specific representation of the candidate genes involved in transport, metabolism and clearance.
  1. Statin Pathway - Generalized, Pharmacokinetics
    Representation of the superset of all genes involved in the transport, metabolism and clearance of statin class drugs.

External Pathways

Links to non-PharmGKB pathways.

  1. multi-drug resistance factors - (BioCarta via Pathway Interaction Database)
  2. Recycling of bile acids and salts - (Reactome via Pathway Interaction Database)
  3. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
hmg coa reductase inhibitors

Curated Information ?

Publications related to ABCB11: 12

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CYP2C9, SLCO1B1, SLCO1B3, and ABCB11 polymorphisms in patients with bosentan-induced liver toxicity. Clinical pharmacology and therapeutics. 2014. Roustit M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Role of chemical structures and the 1331T>C bile salt export pump polymorphism in idiosyncratic drug-induced liver injury. Liver international : official journal of the International Association for the Study of the Liver. 2013. Ulzurrun Eugenia, 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
Emerging Transporters of Clinical Importance: An Update from the International Transporter Consortium. Clinical pharmacology and therapeutics. 2013. Hillgren Kathleen 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 expression profile of ATP-binding cassette transporter genes in breast carcinoma. Pharmacogenomics. 2013. Hlaváč Viktor, 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
Transporter-Mediated Drug Uptake and Efflux: Important Determinants of Adverse Drug Reactions. Clinical pharmacology and therapeutics. 2011. Zolk O, 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
Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability. Pharmacogenetics and genomics. 2010. Ho Richard H, 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
Drug-induced liver injury: insights from genetic studies. Pharmacogenomics. 2009. Andrade Raúl 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
Genetic variations of the ABC transporter gene ABCB11 encoding the human bile salt export pump (BSEP) in a Japanese population. Drug metabolism and pharmacokinetics. 2009. Kim Su-Ryang, 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 variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation. PloS one. 2009. Hesselson Stephanie E, 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
An overview of cancer multidrug resistance: a still unsolved problem. Cellular and molecular life sciences : CMLS. 2008. Lage H. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Effect of drug transporter genotypes on pravastatin disposition in European- and African-American participants. Pharmacogenetics and genomics. 2007. Ho Richard H, 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
Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenetics and genomics. 2007. Lang Carmen, et al. PubMed

LinkOuts

Entrez Gene:
8647
OMIM:
601847
603201
605479
UCSC Genome Browser:
NM_003742
RefSeq RNA:
NM_003742
RefSeq Protein:
NP_003733
RefSeq DNA:
AC_000045
AC_000134
NC_000002
NG_007374
NT_005403
NW_001838860
NW_003315909
NW_921585
UniProtKB:
ABCBB_HUMAN (O95342)
Ensembl:
ENSG00000073734
GenAtlas:
ABCB11
GeneCard:
ABCB11
MutDB:
ABCB11
ALFRED:
LO007786C
HuGE:
ABCB11
Comparative Toxicogenomics Database:
8647
ModBase:
O95342
HumanCyc Gene:
HS01112
HGNC:
42

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