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.

? = Mouse-over for quick help

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 EPAS1

Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
No VIP available No Clinical Annotations available VA
rs12712973 NC_000002.11:g.46556633A>C, NC_000002.12:g.46329494A>C, NG_016000.1:g.37093A>C, NM_001430.4:c.27-17379A>C, XM_011532698.1:c.65+3618A>C, XR_940055.1:n.2355+6290T>G, rs59714548
A > C
No VIP available No Clinical Annotations available VA
rs1374749 NC_000002.11:g.46596433G>A, NC_000002.12:g.46369294G>A, NG_016000.1:g.76893G>A, NM_001430.4:c.780-533G>A, XM_011532698.1:c.819-533G>A, rs58613482
G > A
No VIP available No Clinical Annotations available VA
rs3768728 NC_000002.11:g.46590791T>C, NC_000002.12:g.46363652T>C, NG_016000.1:g.71251T>C, NM_001430.4:c.779+2562T>C, XM_011532698.1:c.818+2562T>C, rs60273833
T > C
No VIP available No Clinical Annotations available VA
rs4953344 NC_000002.11:g.46552458T>C, NC_000002.12:g.46325319T>C, NG_016000.1:g.32918T>C, NM_001430.4:c.27-21554T>C, XM_011532698.1:c.-493T>C, XR_940055.1:n.2355+10465A>G, rs17746007, rs56802594
T > C
No VIP available No Clinical Annotations available VA
rs6726454 NC_000002.11:g.46561202A>G, NC_000002.12:g.46334063A>G, NG_016000.1:g.41662A>G, NM_001430.4:c.27-12810A>G, XM_011532698.1:c.65+8187A>G, XR_940055.1:n.2355+1721T>C, rs59690653
A > G
No VIP available No Clinical Annotations available VA
rs7589621 NC_000002.11:g.46582382G>A, NC_000002.12:g.46355243G>A, NG_016000.1:g.62842G>A, NM_001430.4:c.218-908G>A, XM_011532698.1:c.257-908G>A, rs61027574
G > A
No VIP available No Clinical Annotations available VA
rs9679290 NC_000002.11:g.46557644G>C, NC_000002.12:g.46330505G>C, NG_016000.1:g.38104G>C, NM_001430.4:c.27-16368G>C, XM_011532698.1:c.65+4629G>C, XR_940055.1:n.2355+5279C>G, rs17802721, rs56551236, rs60991579
G > C
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147


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


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


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.

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 ?

Curated Information ?

Publications related to EPAS1: 3

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic variants in VEGF pathway genes in neoadjuvant breast cancer patients receiving bevacizumab: Results from the randomized phase III GeparQuinto study. International journal of cancer. Journal international du cancer. 2015. Hein Alexander, et al. PubMed
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


NCBI Gene:
UCSC Genome Browser:
RefSeq RNA:
RefSeq Protein:
RefSeq DNA:
EPAS1_HUMAN (Q99814)
Comparative Toxicogenomics Database:
HumanCyc Gene:

Common Searches