Gene:
EPAS1
endothelial PAS domain protein 1

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
rs12712973 25378520A>C, 27-17379A>C, 37093A>C, 46556633A>C
A > C
Intronic
No VIP available No Clinical Annotations available VA
rs6726454 25383089A>G, 27-12810A>G, 41662A>G, 46561202A>G
A > G
Intronic
No VIP available No Clinical Annotations available VA
rs7589621 218-908G>A, 25404269G>A, 46582382G>A, 62842G>A
G > A
Intronic
No VIP available No Clinical Annotations available VA
rs9679290 25379531G>C, 27-16368G>C, 38104G>C, 46557644G>C
G > C
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  HIF-1 alpha-like factor
Alternate Symbols:  HIF2A; HLF; MOP2; PASD2; bHLHe73
PharmGKB Accession Id: PA27809

Details

Cytogenetic Location: chr2 : p21 - p21
GP mRNA Boundary: chr2 : 46524541 - 46613842
GP Gene Boundary: chr2 : 46514541 - 46616842
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.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Signaling events mediated by VEGFR1 and VEGFR2 - (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
bevacizumab
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
ranibizumab

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Macular Degeneration

Publications related to EPAS1: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN Study. Ophthalmology. 2013. Lotery Andrew 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
Blood gene expression correlated with tic severity in medicated and unmedicated patients with Tourette Syndrome. Pharmacogenomics. 2010. Liao Isaac H, et al. PubMed

LinkOuts

Entrez Gene:
2034
OMIM:
603349
611783
UCSC Genome Browser:
NM_001430
RefSeq RNA:
NM_001430
RefSeq Protein:
NP_001421
RefSeq DNA:
AC_000045
AC_000134
NC_000002
NG_016000
NT_022184
NW_001838769
NW_927719
UniProtKB:
B3KW07_HUMAN (B3KW07)
EPAS1_HUMAN (Q99814)
Ensembl:
ENSG00000116016
GenAtlas:
EPAS1
GeneCard:
EPAS1
MutDB:
EPAS1
ALFRED:
LO022498Z
HuGE:
EPAS1
Comparative Toxicogenomics Database:
2034
ModBase:
Q99814
HumanCyc Gene:
HS03969
HGNC:
3374

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