Gene:
UGT1A8
UDP glucuronosyltransferase 1 family, polypeptide A8

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.

List of all UGT1A8 variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No VIP available VA *1a N/A N/A N/A
No VIP available No VIP available VA *2 N/A N/A N/A
No VIP available No VIP available VA *3 N/A N/A N/A
No VIP available No Clinical Annotations available VA
rs10187694 234545583G>A, 415G>A, 491842G>A, 52194G>A, 855+18375G>A, Glu139Lys
G > A
Missense
Glu139Lys
No VIP available CA VA
rs1042597 234526871C>G, 234526871C>T, 33482C>G, 33482C>T, 473130C>G, 473130C>T, 518C>G, 518C>T, Ala173Gly, Ala173Val, UGT1A8*2
C > G
C > T
Missense
Ala173Val
Ala173Gly
No VIP available No Clinical Annotations available VA
rs1042605 234527118A>G, 33729A>G, 473377A>G, 765A>G, Thr255=, UGT1A8*1
A > G
Synonymous
Thr255Thr
No VIP available No Clinical Annotations available VA
rs1105879 -7-243A>C, 108813A>C, 234602202A>C, 548461A>C, 552A>C, 855+10764A>C, 855+20767A>C, 855+56179A>C, 856-73478A>C, Arg184Ser
A > C
Intronic
Arg184Ser
No VIP available No Clinical Annotations available VA
rs11692021 234591205T>C, 537464T>C, 622T>C, 855+45182T>C, 855+63997T>C, 855+9770T>C, 97816T>C, Trp208Arg
T > C
Intronic
Trp208Arg
No VIP available No Clinical Annotations available VA
rs1551285 234529122A>C, 35733A>C, 475381A>C, 855+1914A>C
A > C
Intronic
No VIP available No Clinical Annotations available VA
rs17863762 234527183G>A, 33794G>A, 473442G>A, 830G>A, Cys277Tyr, UGT1A8: UGT1A8*3
G > A
Missense
Cys277Tyr
No VIP available No Clinical Annotations available VA
rs17863783 -7-168G>T, 108888G>T, 234602277G>T, 548536G>T, 627G>T, 855+10839G>T, 855+20842G>T, 855+56254G>T, 856-73403G>T, Val209=
G > T
Intronic
Val209Val
No VIP available No Clinical Annotations available VA
rs17868320 234578428C>T, 524687C>T, 85039C>T, 855+32405C>T, 855+51220C>T
C > T
Intronic
No VIP available No Clinical Annotations available VA
rs17868323 234590970T>G, 387T>G, 537229T>G, 855+44947T>G, 855+63762T>G, 855+9535T>G, 97581T>G, Asn129Lys, UGT1A7:N129K, rs17868323
T > G
Intronic
Asn129Lys
No VIP available No Clinical Annotations available VA
rs2011425 134219T>G, 142T>G, 234627608T>G, 573867T>G, 60+25097T>G, 855+36170T>G, 855+46173T>G, 856-48072T>G, 861+25097T>G, 867+5104T>G, Leu48Val
T > G
Intronic
Leu48Val
No VIP available CA VA
rs2070959 -7-254A>G, 108802A>G, 234602191A>G, 541A>G, 548450A>G, 855+10753A>G, 855+20756A>G, 855+56168A>G, 856-73489A>G, Thr181Ala
A > G
Intronic
Thr181Ala
No VIP available No Clinical Annotations available VA
rs2741049 234581834T>C, 528093T>C, 855+35811T>C, 855+399T>C, 855+54626T>C, 88445T>C
T > C
Intronic
No VIP available No Clinical Annotations available VA
rs34993780 1447T>A, 1447T>G, 1453T>A, 1453T>G, 1456T>A, 1456T>G, 1459T>A, 1459T>G, 187670T>A, 187670T>G, 234681059T>A, 234681059T>G, 627318T>A, 627318T>G, 652T>A, 652T>G, Tyr218Asn, Tyr218Asp, Tyr483Asn, Tyr483Asp, Tyr485Asn, Tyr485Asp, Tyr486Asn, Tyr486Asp, Tyr487Asn, Tyr487Asp
T > G
T > A
Missense
Tyr483Asp
No VIP available No Clinical Annotations available VA
rs35350960 176230C>A, 176230C>T, 234669619C>A, 234669619C>T, 61-6061C>A, 61-6061C>T, 615878C>A, 615878C>T, 686C>A, 686C>T, 856-6061C>A, 856-6061C>T, 862-6061C>A, 862-6061C>T, 868-6061C>A, 868-6061C>T, Pro229Gln, Pro229Leu, UGT1A1*27, UGT1A1:Pro229Glu
C > T
C > A
Intronic
Pro229Gln
No VIP available No Clinical Annotations available VA
rs4261716 234593117G>T, 539376G>T, 855+11682G>T, 855+1679G>T, 855+47094G>T, 855+65909G>T, 99728G>T
G > T
Intronic
No VIP available CA VA
rs6431558 234529643C>T, 36254C>T, 475902C>T, 855+2435C>T
C > T
Intronic
No VIP available No Clinical Annotations available VA
rs6714486 -276T>A, 234580305T>A, 526564T>A, 855+34282T>A, 855+53097T>A, 86916T>A
T > A
5' Flanking
No VIP available No Clinical Annotations available VA
rs6731242 -1888T>G, 234578693T>G, 524952T>G, 85304T>G, 855+32670T>G, 855+51485T>G
T > G
5' Flanking
No VIP available No Clinical Annotations available VA
rs6755571 134147C>A, 234627536C>A, 573795C>A, 60+25025C>A, 70C>A, 855+36098C>A, 855+46101C>A, 856-48144C>A, 861+25025C>A, 867+5032C>A, Pro24Thr
C > A
Intronic
Pro24Thr
No VIP available CA VA
rs6759892 -7-776T>G, 108280T>G, 19T>G, 234601669T>G, 547928T>G, 855+10231T>G, 855+20234T>G, 855+55646T>G, 856-74011T>G, Ser7Ala
T > G
Intronic
Ser7Ala
No VIP available No Clinical Annotations available VA
rs72551344 176242T>G, 234669631T>G, 61-6049T>G, 615890T>G, 698T>G, 856-6049T>G, 862-6049T>G, 868-6049T>G, Leu233Arg
T > G
Intronic
Leu233Arg
No VIP available No Clinical Annotations available VA
rs8175347 233760235_233760236TA[5][6][7][8], 5-TA insertion in promoter, 7-TA insertion in promoter, 8-TA insertion in promoter, UGT1A1*28, UGT1A1*36, UGT1A1*37, microsatellite, short tandem repeat
(TA)6 > (TA)8
(TA)6 > (TA)5
(TA)6 > (TA)7
Not Available
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  None
Alternate Symbols:  UGT1H
PharmGKB Accession Id: PA37183

Details

Cytogenetic Location: chr2 : q37.1 - q37.1
GP mRNA Boundary: chr2 : 234526291 - 234681945
GP Gene Boundary: chr2 : 234516291 - 234684945
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.

Haplotype Overview

UGT1A8 haplotypes are sourced from the UGT Alleles Nomenclature page.

Notes on the UGT Alleles Nomenclature page:

Please refer to the UGT1A1 VIP Summary for an explanation of the different UGT1A isoforms, and the composition of the UGT1A locus.

  • For each UGT1A isoform, the UGT Alleles Nomenclature page provides a table of the haplotypes and a list of the SNPs within that gene. If available, associated rsIDs are provided in the SNPs list.
  • Any nucleotide changes or nucleotide positions listed in the haplotype tables or SNPs lists refer to genomic DNA.
  • The list of SNPs consists of nucleotide changes ranging from the promoter region of each UGT1A isoform to the intervening sequence between that isoform and the next one (i.e the 5' to 3' direction down the UGT1A locus). For example, the list of SNPs for UGT1A7 begins with SNPs in the promoter region of that isoform and concludes with SNPs within the intervening sequence between UGT1A7 and UGT1A6.
  • Therefore, when looking at the UGT Alleles Nomenclature page for all rs numbers sorted by nucleotide position, note that the SNPs in the promoter region for UGT1A8 are at the beginning of the list, and the SNPs within the common exon region (exons 2-5) are at the end.

Source: PharmGKB

All alleles in the download file are on the positive chromosomal strand. PharmGKB considers the first haplotype listed in each table as the reference haplotype for that set.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Efavirenz Pathway, Pharmacokinetics/Pharmacodynamics
    Schematic representation of efavirenz metabolism and mechanism of action against HIV.
  1. Estrogen Metabolism Pathway
    Estrogen metabolism in the liver.
  1. Irinotecan Pathway, Pharmacodynamics
    Model non-tissue specific cancer cell displaying genes which may be involved in the irinotecan pathway.
  1. Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics
    Schematic representation of mycophenolic acid metabolism.
  1. Tamoxifen Pathway, Pharmacokinetics
    Tamoxifen metabolism in the liver.
  1. Valproic Acid Pathway, Pharmacokinetics
    Graphic representation of the candidate genes involved in valproic acid pharmacokinetics.

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 ?

Curated Information ?

Publications related to UGT1A8: 30

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Clinical and pharmacogenetic factors affecting neonatal bilirubinemia following atazanavir treatment of mothers during pregnancy. AIDS research and human retroviruses. 2013. Eley Timothy, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Characterization of raloxifene glucuronidation: potential role of UGT1A8 genotype on raloxifene metabolism in vivo. Cancer prevention research (Philadelphia, Pa.). 2013. Sun Dongxiao, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Preclinical discovery of candidate genes to guide pharmacogenetics during phase I development: the example of the novel anticancer agent ABT-751. Pharmacogenetics and genomics. 2013. Innocenti Federico, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Population pharmacokinetics of unbound mycophenolic acid in adult allogeneic haematopoietic cell transplantation: effect of pharmacogenetic factors. British journal of clinical pharmacology. 2013. Frymoyer Adam, 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
Valproic acid pathway: pharmacokinetics and pharmacodynamics. Pharmacogenetics and genomics. 2013. Ghodke-Puranik Yogita, 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
Glucuronidation by UGT1A1 Is the Dominant Pathway of the Metabolic Disposition of Belinostat in Liver Cancer Patients. PloS one. 2013. Wang Ling-Zhi, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Functional analysis of UGT1A4(P24T) and UGT1A4(L48V) variant enzymes. Pharmacogenomics. 2011. Zhou Jin, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pharmacogenomic Prediction of Anthracycline-Induced Cardiotoxicity in Children. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2011. Visscher Henk, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Association of genetic variants in six candidate genes with valproic acid therapy optimization. Pharmacogenomics. 2011. Hung Chin-Chuan, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pharmacogenetic Tailoring of Irinotecan-based First-line Chemotherapy in Metastatic Colorectal Cancer: Results of a Pilot Study. Anticancer research. 2011. Freyer Gilles, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Risk of diarrhoea in a long-term cohort of renal transplant patients given mycophenolate mofetil: the significant role of the UGT1A8 2 variant allele. British journal of clinical pharmacology. 2010. Woillard Jean-Baptiste, 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 role of organic anion-transporting polypeptides and their common genetic variants in mycophenolic acid pharmacokinetics. Clinical pharmacology and therapeutics. 2010. Picard N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Single nucleotide polymorphism in ABCG2 is associated with irinotecan-induced severe myelosuppression. Journal of human genetics. 2009. Cha Pei-Chieng, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Influence of uridine diphosphate (UDP)-glucuronosyltransferases and ABCC2 genetic polymorphisms on the pharmacokinetics of mycophenolic acid and its metabolites in Chinese renal transplant recipients. Xenobiotica; the fate of foreign compounds in biological systems. 2008. Zhang W-X, 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
Pharmacogenetic insights into codeine analgesia: implications to pediatric codeine use. Pharmacogenomics. 2008. Madadi Parvaz, 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
Pharmacogenetics of Gilbert's syndrome. Pharmacogenomics. 2008. Strassburg Christian P. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Contribution of UDP-glucuronosyltransferase 1A1 and 1A8 to morphine-6-glucuronidation and its kinetic properties. Drug metabolism and disposition: the biological fate of chemicals. 2008. Ohno Shuji, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Gilbert's Syndrome and irinotecan toxicity: combination with UDP-glucuronosyltransferase 1A7 variants increases risk. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 2008. Lankisch Tim 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
Pharmacogenetics of mycophenolate mofetil: a promising different approach to tailoring immunosuppression?. Journal of nephrology. 2008. Betonico G N, 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 impact of UGT1A8, UGT1A9, and UGT2B7 genetic polymorphisms on the pharmacokinetic profile of mycophenolic acid after a single oral dose in healthy volunteers. Clinical pharmacology and therapeutics. 2007. Lévesque 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
Genetic variability, haplotypes, and htSNPs for exons 1 at the human UGT1A locus. Human mutation. 2006. Thomas Sushma S, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
UDP glucuronosyltransferase (UGT) 1A6 pharmacogenetics: II. Functional impact of the three most common nonsynonymous UGT1A6 polymorphisms (S7A, T181A, and R184S). The Journal of pharmacology and experimental therapeutics. 2005. Krishnaswamy Soundararajan, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C> T (P229L) found in an African-American. Drug metabolism and disposition: the biological fate of chemicals. 2005. Kaniwa Nahoko, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pharmacogenetics of tipifarnib (R115777) transport and metabolism in cancer patients. Investigational new drugs. 2004. Sparreboom Alex, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer. Clinical pharmacology and therapeutics. 2004. Sai Kimie, 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
Characterization of nicotine and cotinine N-glucuronidations in human liver microsomes. Drug metabolism and disposition: the biological fate of chemicals. 2002. Nakajima Miki, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38). Molecular pharmacology. 2002. Gagné Jean-François, 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
Identification and functional characterization of UDP-glucuronosyltransferases UGT1A8*1, UGT1A8*2 and UGT1A8*3. Pharmacogenetics. 2002. Huang Yue-Hua, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. Haematologica. 1999. Iolascon A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?. Proceedings of the National Academy of Sciences of the United States of America. 1998. Beutler E, et al. PubMed

LinkOuts

Entrez Gene:
54576
OMIM:
606433
UCSC Genome Browser:
NM_019076
RefSeq RNA:
NM_019076
RefSeq Protein:
NP_061949
MutDB:
UGT1A8
ALFRED:
LO004401J
HuGE:
UGT1A8
Comparative Toxicogenomics Database:
54576
ModBase:
Q9HAW9
HGNC:
12540

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