Gene:
HNF4A
hepatocyte nuclear factor 4, alpha

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 contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

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
rs1800963 -728A>C, -840A>C, 13225377A>C, 43029285A>C, 49845A>C, 50-5413A>C
A > C
5' Flanking
No VIP available No Clinical Annotations available VA
rs2071197 115+308G>A, 13226527G>A, 3+308G>A, 43030435G>A, 50-4263G>A, 50995G>A
G > A
Intronic
No VIP available No Clinical Annotations available VA
rs2273618 13248662T>C, 43052570T>C, 73130T>C, 827-88T>C, 872-88T>C, 893-88T>C
T > C
Intronic
No VIP available No Clinical Annotations available VA
rs3212200 13243021T>C, 43046929T>C, 583-136T>C, 628-136T>C, 649-136T>C, 67489T>C
T > C
Intronic
No VIP available No Clinical Annotations available VA
rs3746574 1187-145T>C, 1217-145T>C, 1253-145T>C, 1262-145T>C, 1283-145T>C, 13254110T>C, 43058018T>C, 78578T>C
T > C
Intronic
No VIP available No Clinical Annotations available VA
rs3818247 1186+383G>T, 1216+353G>T, 1252+383G>T, 1261+353G>T, 1282+353G>T, 13253572G>T, 43057480G>T, 78040G>T
G > T
Intronic
No VIP available No Clinical Annotations available VA
rs6103731 13243385A>G, 43047293A>G, 670+141A>G, 67853A>G, 715+141A>G, 736+141A>G
A > G
Intronic
No VIP available No Clinical Annotations available VA
rs6130615 *1132C>T, 13255529C>T, 43059437C>T, 79997C>T
C > T
3' UTR
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  HNF4; NR2A1
PharmGKB Accession Id: PA29349

Details

Cytogenetic Location: chr20 : q13.12 - q13.12
GP mRNA Boundary: chr20 : 42984441 - 43060030
GP Gene Boundary: chr20 : 42974441 - 43063030
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.

  1. Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    Representation of anti-diabetic drugs repaglinide, nateglinide and sulfonylurea effects on insulin secretion in pancreatic cells.

External Pathways

Links to non-PharmGKB pathways.

  1. E-cadherin signaling events - (Pathway Interaction Database NCI-Nature Curated)
  2. FOXA2 and FOXA3 transcription factor networks - (Pathway Interaction Database NCI-Nature Curated)
  3. HIF-1-alpha transcription factor network - (Pathway Interaction Database NCI-Nature Curated)
  4. Regulation of nuclear SMAD2/3 signaling - (Pathway Interaction Database NCI-Nature Curated)
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
carbamazepine
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
docetaxel

Curated Information ?

Publications related to HNF4A: 5

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pregnane X receptor and hepatocyte nuclear factor 4alpha polymorphisms are cooperatively associated with carbamazepine autoinduction. Pharmacogenetics and genomics. 2013. Saruwatari Junji, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pharmacogenetic effects of regulatory nuclear receptors (PXR, CAR, RXRalpha and HNF4alpha) on docetaxel disposition in Chinese nasopharyngeal cancer patients. European journal of clinical pharmacology. 2013. Chew Sin-Chi, 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
Pharmacoepigenetics: its role in interindividual differences in drug response. Clinical pharmacology and therapeutics. 2009. Gomez 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
Dexamethasone-mediated up-regulation of human CYP2A6 involves the glucocorticoid receptor and increased binding of hepatic nuclear factor 4 alpha to the proximal promoter. Molecular pharmacology. 2008. Onica Tania, 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
T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro. Human molecular genetics. 2005. Lewinsky Rikke H, et al. PubMed

LinkOuts

UniProtKB:
HNF4A_HUMAN (P41235)
Ensembl:
ENSG00000101076
GenAtlas:
HNF4A
GeneCard:
HNF4A
MutDB:
HNF4A
ALFRED:
LO054681Y
HuGE:
HNF4A
Comparative Toxicogenomics Database:
3172
ModBase:
Q92653
HumanCyc Gene:
HS02188
HGNC:
5024

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