Epas1 (endothelial PAS domain protein 1) - Rat Genome Database

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Gene: Epas1 (endothelial PAS domain protein 1) Rattus norvegicus
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Symbol: Epas1
Name: endothelial PAS domain protein 1
RGD ID: 68404
Description: Enables DNA-binding transcription factor activity and cobalt ion binding activity. Contributes to sequence-specific DNA binding activity. Involved in several processes, including norepinephrine biosynthetic process; positive regulation of dopamine biosynthetic process; and regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm and nuclear speck. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Used to study acute kidney failure and intermittent claudication. Biomarker of artery disease (multiple); bronchopulmonary dysplasia; glucose metabolism disease (multiple); polycystic kidney disease; and renal cell carcinoma. Human ortholog(s) of this gene implicated in familial erythrocytosis 4; lung non-small cell carcinoma; polycythemia; and pulmonary hypertension. Orthologous to human EPAS1 (endothelial PAS domain protein 1); PARTICIPATES IN hypoxia inducible factor pathway; renal cell carcinoma pathway; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 1H-benzimidazole.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: endothelial PAS domain-containing protein 1; EPAS-1; HIF-2 alpha; HIF-2-alpha; HIF2 alpha; HIF2-alpha; Hif2a; HLF; hypoxia inducible factor 2, alpha subunit; hypoxia inducible factor 2a; hypoxia-inducible factor 2 alpha; hypoxia-inducible factor 2-alpha
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8613,543,252 - 13,626,147 (-)NCBIGRCr8
GRCr8 Ensembl613,544,389 - 13,624,729 (-)EnsemblGRCr8 Ensembl
mRatBN7.267,790,236 - 7,871,717 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl67,790,647 - 7,871,228 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx68,070,313 - 8,149,953 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.068,379,714 - 8,459,355 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.067,907,014 - 7,986,657 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0610,306,508 - 10,385,239 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl610,306,405 - 10,387,265 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0620,299,603 - 20,379,864 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4610,203,108 - 10,297,215 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera67,526,511 - 7,605,382 (-)NCBICelera
RGSC_v3.1610,203,107 - 10,297,215 (+)NCBI
Cytogenetic Map6q12NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
1H-benzimidazole  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-methylcholine  (ISO)
2-palmitoylglycerol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-dihydroxybenzoate  (ISO)
3-methylcholanthrene  (ISO)
3-phenylprop-2-enal  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-amino-2,6-dinitrotoluene  (EXP)
4-hydroperoxycyclophosphamide  (ISO)
4-hydroxy-TEMPO  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (EXP)
acetaldehyde  (ISO)
acetamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (ISO)
Aflatoxin B2 alpha  (ISO)
aldehydo-D-glucosamine  (EXP)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (EXP)
ammonium chloride  (EXP,ISO)
antimycin A  (EXP)
aristolochic acid A  (ISO)
arsenite(3-)  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (ISO)
beta-D-glucosamine  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
Bisphenol Z  (ISO)
butan-1-ol  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
cannabidiol  (ISO)
carbon nanotube  (ISO)
ceric oxide  (ISO)
chloropicrin  (ISO)
chlorpyrifos  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
ciglitazone  (ISO)
clofibrate  (ISO)
cobalt atom  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (ISO)
crocidolite asbestos  (ISO)
curcumin  (ISO)
cycloheximide  (ISO)
cyclosporin A  (ISO)
DDT  (EXP)
deguelin  (ISO)
delphinidin  (ISO)
desferrioxamine B  (EXP,ISO)
diazinon  (ISO)
Dibutyl phosphate  (ISO)
diclofenac  (ISO)
dicrotophos  (ISO)
diethyl malate  (ISO)
diethylstilbestrol  (EXP)
diisononyl phthalate  (ISO)
dinophysistoxin 1  (ISO)
dioxygen  (EXP,ISO)
disodium selenite  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
flutamide  (EXP)
folic acid  (ISO)
formaldehyde  (ISO)
fulvestrant  (ISO)
furan  (ISO)
galangin  (ISO)
glutathione  (ISO)
hydralazine  (ISO)
hydrogen peroxide  (ISO)
ibuprofen  (ISO)
indoxyl sulfate  (ISO)
iron atom  (EXP,ISO)
iron(0)  (EXP,ISO)
iron(2+) sulfate (anhydrous)  (ISO)
ketoconazole  (EXP,ISO)
ketorolac  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
leflunomide  (ISO)
letrozole  (ISO)
LY294002  (ISO)
manganese(II) chloride  (ISO)
menadione  (ISO)
mercury dibromide  (ISO)
methamphetamine  (EXP)
methotrexate  (ISO)
methoxychlor  (EXP)
methyl methanesulfonate  (ISO)
mithramycin  (EXP)
molibresib  (ISO)
myxothiazol  (EXP)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (ISO)
nickel sulfate  (ISO)
niclosamide  (ISO)
nitric oxide  (ISO)
nitrofen  (EXP)
Nor-9-carboxy-delta9-THC  (ISO)
ochratoxin A  (ISO)
okadaic acid  (ISO)
ozone  (EXP,ISO)
panobinostat  (ISO)
paracetamol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
pevonedistat  (ISO)
phenylephrine  (EXP)
phenylmercury acetate  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
phosphane  (EXP)
pirinixic acid  (ISO)
piroxicam  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
protoporphyrin  (ISO)
quercetin  (ISO)
quercitrin  (ISO)
rifampicin  (ISO)
rotenone  (EXP,ISO)
SB 431542  (ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
sodium cyanide  (EXP)
sotorasib  (ISO)
squalene  (ISO)
sunitinib  (ISO)
T-2 toxin  (ISO)
temozolomide  (ISO)
thapsigargin  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trametinib  (ISO)
trichloroethene  (EXP,ISO)
trichostatin A  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (EXP)
vorinostat  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IBA,IEA,ISO)
blood vessel remodeling  (IBA,IEA,ISO)
cell differentiation  (IEA,ISO)
cellular response to hypoxia  (IBA,IEA,IEP,ISO,ISS)
cellular response to interleukin-1  (IEP)
cellular response to lipopolysaccharide  (IEP)
embryonic placenta development  (IEA,ISO)
epithelial cell maturation  (IEA,ISO)
erythrocyte differentiation  (IBA,IEA,ISO)
gene expression  (IEA,ISO)
heart development  (IEP)
hemopoiesis  (IEA,ISO)
intracellular oxygen homeostasis  (IBA)
lung development  (IBA,IEA,IEP,ISO)
mitochondrion organization  (IEA,ISO)
mRNA transcription by RNA polymerase II  (IEA,ISO)
multicellular organismal-level iron ion homeostasis  (IEA,ISO)
myoblast fate commitment  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IMP)
norepinephrine biosynthetic process  (IMP)
norepinephrine metabolic process  (IEA,ISO)
positive regulation of cold-induced thermogenesis  (IEA,ISO,ISS)
positive regulation of dopamine biosynthetic process  (IMP)
positive regulation of lung alveolus development  (IEP)
positive regulation of multicellular organismal process  (IEA)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISO)
regulation of DNA-templated transcription  (IEA)
regulation of heart rate  (IEA,ISO)
regulation of protein neddylation  (IEA,ISO,ISS)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISO)
response to hypoxia  (IDA,IEA,ISO)
response to oxidative stress  (IEA,ISO)
surfactant homeostasis  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
visual perception  (IEA,ISO)

Cellular Component
cytoplasm  (IEA,ISO)
nuclear speck  (IEA,ISO)
nucleus  (IBA,IEA,ISO)
transcription regulator complex  (IBA,IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Intestinal HIF2alpha promotes tissue-iron accumulation in disorders of iron overload with anemia. Anderson ER, etal., Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):E4922-30. doi: 10.1073/pnas.1314197110. Epub 2013 Nov 26.
2. Regional expression of the hypoxia-inducible factor (HIF) system and association with cardiomyocyte cell cycle re-entry after myocardial infarction in rats. Bai CG, etal., Heart Vessels. 2008 May;23(3):193-200. Epub 2008 May 17.
3. Involvement of hypoxia-inducible transcription factors in polycystic kidney disease. Bernhardt WM, etal., Am J Pathol. 2007 Mar;170(3):830-42.
4. Preconditional activation of hypoxia-inducible factors ameliorates ischemic acute renal failure. Bernhardt WM, etal., J Am Soc Nephrol. 2006 Jul;17(7):1970-8. Epub 2006 Jun 8.
5. Hypoxia inducible factor (HIF)-2 alpha is required for the development of the catecholaminergic phenotype of sympathoadrenal cells. Brown ST, etal., J Neurochem. 2009 Jul;110(2):622-30. Epub 2009 May 8.
6. First evidence of aryl hydrocarbon receptor as a druggable target in hypertension induced by chronic intermittent hypoxia. Coelho NR, etal., Pharmacol Res. 2020 Sep;159:104869. doi: 10.1016/j.phrs.2020.104869. Epub 2020 May 19.
7. Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation. Gale DP, etal., Blood. 2008 Aug 1;112(3):919-21. doi: 10.1182/blood-2008-04-153718.
8. Adipocyte-Specific Hypoxia-Inducible Factor 2alpha Deficiency Exacerbates Obesity-Induced Brown Adipose Tissue Dysfunction and Metabolic Dysregulation. Garcia-Martin R, etal., Mol Cell Biol. 2015 Nov 16;36(3):376-93. doi: 10.1128/MCB.00430-15.
9. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
10. Upregulated hypoxia inducible factor-1alpha and -2alpha pathway in rheumatoid arthritis and osteoarthritis. Giatromanolaki A, etal., Arthritis Res Ther. 2003;5(4):R193-201. Epub 2003 Apr 29.
11. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
12. Persistent induction of HIF-1alpha and -2alpha in cardiomyocytes and stromal cells of ischemic myocardium. Jurgensen JS, etal., FASEB J. 2004 Sep;18(12):1415-7. Epub 2004 Jul 9.
13. HIF1alpha and HIF2alpha: sibling rivalry in hypoxic tumour growth and progression. Keith B, etal., Nat Rev Cancer. 2011 Dec 15;12(1):9-22. doi: 10.1038/nrc3183.
14. Perivenous expression of the mRNA of the three hypoxia-inducible factor alpha-subunits, HIF1alpha, HIF2alpha and HIF3alpha, in rat liver. Kietzmann T, etal., Biochem J 2001 Mar 15;354(Pt 3):531-7.
15. Cardiac expressions of HIF-1 alpha and HLF/EPAS, two basic loop helix/PAS domain transcription factors involved in adaptative responses to hypoxic stresses. Ladoux A and Frelin C, Biochem Biophys Res Commun 1997 Nov 26;240(3):552-6.
16. Differential expression of three hypoxia-inducible factor-alpha subunits in pulmonary arteries of rat with hypoxia-induced hypertension. Li QF and Dai AG, Acta Biochim Biophys Sin (Shanghai). 2005 Oct;37(10):665-72.
17. Up-regulation of hypoxia-inducible factor 2alpha in renal cell carcinoma associated with loss of Tsc-2 tumor suppressor gene. Liu MY, etal., Cancer Res. 2003 May 15;63(10):2675-80.
18. HIF-1 and HIF-2 transcription factors--similar but not identical. Loboda A, etal., Mol Cells. 2010 May;29(5):435-42. Epub 2010 Apr 12.
19. Erythropoietin is a hypoxia inducible factor-induced protective molecule in experimental autoimmune neuritis. Luo B, etal., Biochim Biophys Acta. 2013 Aug;1832(8):1260-70. doi: 10.1016/j.bbadis.2013.04.015. Epub 2013 Apr 17.
20. A variant of nuclear localization signal of bipartite-type is required for the nuclear translocation of hypoxia inducible factors (1alpha, 2alpha and 3alpha). Luo JC and Shibuya M, Oncogene. 2001 Mar 22;20(12):1435-44.
21. Int6 silencing causes induction of angiogenic factors in neuronal cells via accumulation of hypoxia-inducible factor 2alpha and decreases brain damage in rats. Miyashita R, etal., Neurosci Lett. 2012 Oct 18;528(1):83-8. doi: 10.1016/j.neulet.2012.08.033. Epub 2012 Aug 28.
22. A large-scale replication study for the association of rs17039192 in HIF-2alpha with knee osteoarthritis. Nakajima M, etal., J Orthop Res. 2012 Aug;30(8):1244-8. doi: 10.1002/jor.22063. Epub 2012 Jan 13.
23. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
24. Cobalt ameliorates renal injury in an obese, hypertensive type 2 diabetes rat model. Ohtomo S, etal., Nephrol Dial Transplant. 2008 Apr;23(4):1166-72. Epub 2007 Oct 28.
25. Silencing of int6 gene restores function of the ischaemic hindlimb in a rat model of peripheral arterial disease. Okamoto N, etal., Cardiovasc Res. 2011 Nov 1;92(2):209-17. doi: 10.1093/cvr/cvr203. Epub 2011 Jul 19.
26. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
27. Sildenafil alleviates bronchopulmonary dysplasia in neonatal rats by activating the hypoxia-inducible factor signaling pathway. Park HS, etal., Am J Respir Cell Mol Biol. 2013 Jan;48(1):105-13. doi: 10.1165/rcmb.2012-0043OC. Epub 2012 Oct 11.
28. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
29. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
30. Loss of hypoxia-inducible factor 2 alpha in the lung alveolar epithelium of mice leads to enhanced eosinophilic inflammation in cobalt-induced lung injury. Proper SP, etal., Toxicol Sci. 2014 Feb;137(2):447-57. doi: 10.1093/toxsci/kft253. Epub 2013 Nov 11.
31. Selective overexpression of the hypoxia-inducible transcription factor, HIF-2alpha, in placentas from women with preeclampsia. Rajakumar A, etal., Biol Reprod. 2001 Feb;64(2):499-506.
32. Hepatic changes of erythropoietin gene expression in a rat model of acute-phase response. Ramadori P, etal., Liver Int. 2010 Jan;30(1):55-64. doi: 10.1111/j.1478-3231.2009.02131.x. Epub 2009 Oct 13.
33. GOA pipeline RGD automated data pipeline
34. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
35. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
36. Upregulation of hypoxia-inducible factors in normal and psoriatic skin. Rosenberger C, etal., J Invest Dermatol. 2007 Oct;127(10):2445-52. Epub 2007 May 10.
37. Cellular responses to hypoxia after renal segmental infarction. Rosenberger C, etal., Kidney Int. 2003 Sep;64(3):874-86.
38. Adaptation to hypoxia in the diabetic rat kidney. Rosenberger C, etal., Kidney Int. 2008 Jan;73(1):34-42. Epub 2007 Oct 3.
39. Hypoxia-inducible factor-2alpha regulates Fas-mediated chondrocyte apoptosis during osteoarthritic cartilage destruction. Ryu JH, etal., Cell Death Differ. 2012 Mar;19(3):440-50. doi: 10.1038/cdd.2011.111. Epub 2011 Aug 26.
40. Transcriptional regulation of endochondral ossification by HIF-2alpha during skeletal growth and osteoarthritis development. Saito T, etal., Nat Med. 2010 Jun;16(6):678-86. doi: 10.1038/nm.2146. Epub 2010 May 23.
41. Searching for novel molecular targets of chronic rejection in an orthotopic experimental lung transplantation model. Santana-Rodriguez N, etal., J Heart Lung Transplant. 2012 Feb;31(2):213-21. doi: 10.1016/j.healun.2011.11.011.
42. Renal tubular HIF-2alpha expression requires VHL inactivation and causes fibrosis and cysts. Schietke RE, etal., PLoS One. 2012;7(1):e31034. doi: 10.1371/journal.pone.0031034. Epub 2012 Jan 27.
43. Regulation of tyrosine hydroxylase promoter activity by the von Hippel-Lindau tumor suppressor protein and hypoxia-inducible transcription factors. Schnell PO, etal., J Neurochem 2003 Apr;85(2):483-91.
44. The HIF family member EPAS1/HIF-2alpha is required for normal hematopoiesis in mice. Scortegagna M, etal., Blood. 2003 Sep 1;102(5):1634-40. Epub 2003 May 15.
45. Multiple organ pathology, metabolic abnormalities and impaired homeostasis of reactive oxygen species in Epas1-/- mice. Scortegagna M, etal., Nat Genet 2003 Dec;35(4):331-40. Epub 2003 Nov 9.
46. Hypoxia-inducible factor regulation of ANK expression in nucleus pulposus cells: possible implications in controlling dystrophic mineralization in the intervertebral disc. Skubutyte R, etal., Arthritis Rheum. 2010 Sep;62(9):2707-15.
47. Endothelial PAS domain protein 1 (EPAS1) induces adrenomedullin gene expression in cardiac myocytes: role of EPAS1 in an inflammatory response in cardiac myocytes. Tanaka T, etal., J Mol Cell Cardiol. 2002 Jul;34(7):739-48.
48. Tentative Sequence Identification Numbers Tentative Sequence Data IDs. TIGR Gene Index, Rat Data
49. Hypoxia-inducible factors promote alveolar development and regeneration. Vadivel A, etal., Am J Respir Cell Mol Biol. 2014 Jan;50(1):96-105. doi: 10.1165/rcmb.2012-0250OC.
50. EPAS1 Gene Polymorphisms Are Associated With High Altitude Polycythemia in Tibetans at the Qinghai-Tibetan Plateau. Xu J, etal., Wilderness Environ Med. 2015 Sep;26(3):288-94. doi: 10.1016/j.wem.2015.01.002. Epub 2015 Mar 16.
51. Hypoxia-inducible factor-2alpha is a catabolic regulator of osteoarthritic cartilage destruction. Yang S, etal., Nat Med. 2010 Jun;16(6):687-93. doi: 10.1038/nm.2153. Epub 2010 May 23.
52. Long-term exposure to hypoxia inhibits tumor progression of lung cancer in rats and mice. Yu L and Hales CA, BMC Cancer. 2011 Aug 3;11:331. doi: 10.1186/1471-2407-11-331.
53. Hypoxia-inducible factor 2alpha binds to cobalt in vitro. Yuan Y, etal., Biochem Biophys Res Commun. 2001 Nov 9;288(4):849-54.
Additional References at PubMed
PMID:9000051   PMID:9079689   PMID:9113979   PMID:9576906   PMID:9808618   PMID:10880563   PMID:11573933   PMID:11782478   PMID:12053176   PMID:12464608   PMID:12805361   PMID:12832481  
PMID:14747751   PMID:15261140   PMID:15626745   PMID:15728559   PMID:15851592   PMID:16181639   PMID:16287860   PMID:16507764   PMID:16677454   PMID:16683694   PMID:16760477   PMID:16761101  
PMID:17220275   PMID:17284606   PMID:17322295   PMID:17404621   PMID:17627993   PMID:18072084   PMID:18353899   PMID:18515655   PMID:19035510   PMID:19147445   PMID:19420289   PMID:19461047  
PMID:20005221   PMID:21106323   PMID:21106753   PMID:21346155   PMID:21436314   PMID:21454802   PMID:21546903   PMID:21753061   PMID:21856340   PMID:21987385   PMID:22128145   PMID:22235342  
PMID:22403787   PMID:22970249   PMID:23462283   PMID:23520526   PMID:23814049   PMID:24589856   PMID:25283246   PMID:25715026   PMID:26245371   PMID:26993367   PMID:28686686   PMID:28820398  
PMID:29268860   PMID:30344285   PMID:30669752   PMID:31515405   PMID:32146507   PMID:32290638   PMID:33428604   PMID:33748969   PMID:34142475   PMID:35710352  


Genomics

Comparative Map Data
Epas1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8613,543,252 - 13,626,147 (-)NCBIGRCr8
GRCr8 Ensembl613,544,389 - 13,624,729 (-)EnsemblGRCr8 Ensembl
mRatBN7.267,790,236 - 7,871,717 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl67,790,647 - 7,871,228 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx68,070,313 - 8,149,953 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.068,379,714 - 8,459,355 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.067,907,014 - 7,986,657 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0610,306,508 - 10,385,239 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl610,306,405 - 10,387,265 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0620,299,603 - 20,379,864 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4610,203,108 - 10,297,215 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera67,526,511 - 7,605,382 (-)NCBICelera
RGSC_v3.1610,203,107 - 10,297,215 (+)NCBI
Cytogenetic Map6q12NCBI
EPAS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38246,297,407 - 46,386,697 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl246,293,667 - 46,386,697 (+)EnsemblGRCh38hg38GRCh38
GRCh37246,524,546 - 46,613,836 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36246,378,067 - 46,467,340 (+)NCBINCBI36Build 36hg18NCBI36
Build 34246,436,213 - 46,525,486NCBI
Celera246,363,267 - 46,452,583 (+)NCBICelera
Cytogenetic Map2p21NCBI
HuRef246,262,570 - 46,351,445 (+)NCBIHuRef
CHM1_1246,455,122 - 46,544,416 (+)NCBICHM1_1
T2T-CHM13v2.0246,302,427 - 46,391,719 (+)NCBIT2T-CHM13v2.0
Epas1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391787,061,292 - 87,140,838 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1787,061,128 - 87,140,838 (+)EnsemblGRCm39 Ensembl
GRCm381786,753,864 - 86,833,410 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1786,753,700 - 86,833,410 (+)EnsemblGRCm38mm10GRCm38
MGSCv371787,153,204 - 87,232,750 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361786,662,228 - 86,739,908 (+)NCBIMGSCv36mm8
Celera1791,133,927 - 91,214,803 (+)NCBICelera
Cytogenetic Map17E4NCBI
cM Map1756.9NCBI
Epas1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544113,244,626 - 13,328,369 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544113,244,626 - 13,328,220 (+)NCBIChiLan1.0ChiLan1.0
EPAS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21280,015,546 - 80,104,928 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A80,019,514 - 80,108,896 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A46,403,411 - 46,492,734 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A47,332,286 - 47,421,560 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A47,332,308 - 47,421,560 (+)Ensemblpanpan1.1panPan2
EPAS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11048,550,836 - 48,636,776 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1048,551,410 - 48,634,844 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1048,405,643 - 48,491,569 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01049,422,114 - 49,508,080 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1049,422,316 - 49,508,077 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11049,131,051 - 49,216,377 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01049,421,043 - 49,506,595 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01049,603,605 - 49,689,524 (+)NCBIUU_Cfam_GSD_1.0
Epas1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629234,427,139 - 34,510,273 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365085,855,732 - 5,938,856 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365085,855,748 - 5,938,879 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPAS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl394,165,816 - 94,254,079 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1394,167,759 - 94,253,662 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23100,157,832 - 100,211,343 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EPAS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11460,823,110 - 60,912,804 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1460,822,815 - 60,912,785 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604550,944,448 - 51,034,251 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Epas1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473827,747,696 - 27,834,054 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473827,747,770 - 27,831,213 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Epas1
556 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:59
Count of miRNA genes:55
Interacting mature miRNAs:58
Transcripts:ENSRNOT00000034991
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
8552962Pigfal16Plasma insulin-like growth factor 1 level QTL 169.4blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)6197587946975879Rat
7411603Foco13Food consumption QTL 135.50.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)6197587946975879Rat
1598843Cm63Cardiac mass QTL 632.6heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)6144788383Rat
7411542Bw127Body weight QTL 1275.50.001body mass (VT:0001259)body weight gain (CMO:0000420)6197587946975879Rat
2293706Bmd20Bone mineral density QTL 204.30.0002femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)6125740059Rat
2292616Ept15Estrogen-induced pituitary tumorigenesis QTL 154.4pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)6144788383Rat
9589048Scfw3Subcutaneous fat weight QTL 34.570.001subcutaneous adipose mass (VT:1000472)abdominal subcutaneous fat pad weight (CMO:0002069)6197587946975879Rat
2301964Bp323Blood pressure QTL 3234.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)6186868070Rat
2293709Bss23Bone structure and strength QTL 235.180.0001femur morphology trait (VT:0000559)femur cross-sectional area (CMO:0001661)6323998948239989Rat
2293650Bss31Bone structure and strength QTL 315.050.0001femur strength trait (VT:0010010)femur midshaft polar moment of inertia (CMO:0001669)6323998948239989Rat
1300128Rf16Renal function QTL 163.89renal blood flow trait (VT:2000006)absolute change in renal blood flow rate (CMO:0001168)6140163351Rat
70196BpQTLcluster7Blood pressure QTL cluster 76.82arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)6120510098Rat
1300164Rf15Renal function QTL 153.12renal blood flow trait (VT:2000006)absolute change in renal blood flow rate (CMO:0001168)6323998948239989Rat
1358190Ept1Estrogen-induced pituitary tumorigenesis QTL 14.4pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)6144788383Rat
2293656Bss28Bone structure and strength QTL 286.790.0001femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)6323998948239989Rat
9589129Insul24Insulin level QTL 2419.060.001blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)6197587946975879Rat

Markers in Region
Epas1  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.267,817,840 - 7,817,935 (-)MAPPERmRatBN7.2
Rnor_6.0610,359,742 - 10,359,836NCBIRnor6.0
Rnor_5.0620,352,340 - 20,352,434UniSTSRnor5.0
RGSC_v3.4610,271,730 - 10,271,824UniSTSRGSC3.4
Celera67,552,090 - 7,552,184UniSTS
Cytogenetic Map6q12UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
9 11 49 113 91 90 59 25 59 6 218 97 11 93 45 60 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000034991   ⟹   ENSRNOP00000033874
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl613,545,030 - 13,582,417 (-)Ensembl
mRatBN7.2 Ensembl67,792,263 - 7,829,403 (-)Ensembl
Rnor_6.0 Ensembl610,348,308 - 10,385,213 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000080507   ⟹   ENSRNOP00000070697
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl610,306,508 - 10,385,239 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000090420   ⟹   ENSRNOP00000075020
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl613,544,389 - 13,624,729 (-)Ensembl
mRatBN7.2 Ensembl67,790,647 - 7,871,228 (-)Ensembl
Rnor_6.0 Ensembl610,306,405 - 10,387,265 (+)Ensembl
RefSeq Acc Id: NM_023090   ⟹   NP_075578
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8613,545,030 - 13,624,729 (-)NCBI
mRatBN7.267,792,014 - 7,871,717 (-)NCBI
Rnor_6.0610,306,508 - 10,385,239 (+)NCBI
Rnor_5.0620,299,603 - 20,379,864 (+)NCBI
RGSC_v3.4610,203,108 - 10,297,215 (+)RGD
Celera67,526,511 - 7,605,382 (-)RGD
Sequence:
RefSeq Acc Id: XM_039111846   ⟹   XP_038967774
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8613,543,252 - 13,623,489 (-)NCBI
mRatBN7.267,790,236 - 7,870,175 (-)NCBI
RefSeq Acc Id: XM_039111847   ⟹   XP_038967775
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8613,543,252 - 13,623,594 (-)NCBI
mRatBN7.267,792,172 - 7,870,332 (-)NCBI
RefSeq Acc Id: XM_063261582   ⟹   XP_063117652
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8613,543,252 - 13,623,489 (-)NCBI
RefSeq Acc Id: XM_063261583   ⟹   XP_063117653
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8613,543,252 - 13,626,147 (-)NCBI
RefSeq Acc Id: XM_063261584   ⟹   XP_063117654
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8613,543,252 - 13,623,530 (-)NCBI
RefSeq Acc Id: NP_075578   ⟸   NM_023090
- UniProtKB: A6H9F5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000070697   ⟸   ENSRNOT00000080507
Ensembl Acc Id: ENSRNOP00000075020   ⟸   ENSRNOT00000090420
Ensembl Acc Id: ENSRNOP00000033874   ⟸   ENSRNOT00000034991
RefSeq Acc Id: XP_038967774   ⟸   XM_039111846
- Peptide Label: isoform X2
- UniProtKB: A6H9F5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038967775   ⟸   XM_039111847
- Peptide Label: isoform X5
- UniProtKB: A6H9F5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063117653   ⟸   XM_063261583
- Peptide Label: isoform X3
- UniProtKB: A6H9F5 (UniProtKB/TrEMBL),   A0A0G2K9J6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063117654   ⟸   XM_063261584
- Peptide Label: isoform X4
- UniProtKB: A6H9F5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063117652   ⟸   XM_063261582
- Peptide Label: isoform X1
- UniProtKB: A6H9F5 (UniProtKB/TrEMBL)
Protein Domains
bHLH   PAC   PAS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9JHS1-F1-model_v2 AlphaFold Q9JHS1 1-874 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13694385
Promoter ID:EPDNEW_R4910
Type:initiation region
Name:Epas1_1
Description:endothelial PAS domain protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0610,306,435 - 10,306,495EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:68404 AgrOrtholog
BioCyc Gene G2FUF-38705 BioCyc
Ensembl Genes ENSRNOG00000021318 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000034991 ENTREZGENE
  ENSRNOT00000090420 ENTREZGENE
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot
  PAS domain UniProtKB/Swiss-Prot
InterPro bHLH_dom UniProtKB/Swiss-Prot
  HIF-1_TAD_C UniProtKB/Swiss-Prot
  HIF_alpha_subunit UniProtKB/Swiss-Prot
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot
  Nuc_translocat UniProtKB/Swiss-Prot
  PAC UniProtKB/Swiss-Prot
  PAS UniProtKB/Swiss-Prot
  PAS-like_dom_sf UniProtKB/Swiss-Prot
  PAS_fold UniProtKB/Swiss-Prot
KEGG Report rno:29452 UniProtKB/Swiss-Prot
NCBI Gene 29452 ENTREZGENE
PANTHER ENDOTHELIAL PAS DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  HYPOXIA-INDUCIBLE FACTOR 1 ALPHA UniProtKB/Swiss-Prot
Pfam bHLH_HIF1A UniProtKB/Swiss-Prot
  HIF-1 UniProtKB/Swiss-Prot
  HIF-1a_CTAD UniProtKB/Swiss-Prot
  PAS UniProtKB/Swiss-Prot
  PAS_11 UniProtKB/Swiss-Prot
PhenoGen Epas1 PhenoGen
PRINTS NCTRNSLOCATR UniProtKB/Swiss-Prot
PROSITE BHLH UniProtKB/Swiss-Prot
  PAS UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000021318 RatGTEx
SMART HLH UniProtKB/Swiss-Prot
  PAC UniProtKB/Swiss-Prot
  PAS UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot
  SSF55785 UniProtKB/Swiss-Prot
TIGR TC231862
UniProt A0A0G2K9J6 ENTREZGENE, UniProtKB/TrEMBL
  A6H9F5 ENTREZGENE, UniProtKB/TrEMBL
  EPAS1_RAT UniProtKB/Swiss-Prot
  F1M8I5_RAT UniProtKB/TrEMBL
  Q9JHS1 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2006-04-05 Epas1  endothelial PAS domain protein 1  Hif2a  hypoxia inducible factor 2a  Data merged from RGD:70331 737654 APPROVED
2004-09-10 Epas1  endothelial PAS domain protein 1    endothelial PAS domain protein 1   Name updated 1299863 APPROVED
2002-06-10 Hif2a  hypoxia inducible factor 2a      Symbol and Name status set to approved 70586 APPROVED
2002-06-10 Epas1  endothelial PAS domain protein 1       Name updated 70584 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_domains protein contains basic helix-loop-helix/ PAS domain 625724
gene_expression expressed in hepatocytes of the perivenous zone of the rat liver 68201
gene_expression expressed in the lung and adult cardiac tissues but not in the neonatal cardiomyocytes 625724
gene_expression RNA expression appears at birth in lung and cardiac tissues and maintained at high levels throughout adult life 625724
gene_homology has 85% identity with 450-1562 bp region of mouse Epas1 625724
gene_physical_interaction forms heterodimeric complex with the aryl hydro-carbon receptor nuclear translocator (ARNT) 625724
gene_physical_interaction interacts with hypoxia sensitive elements 625724
gene_process activates the transcription of hypoxic stress sensitive genes 625724
gene_process involved in activation of the transcription of vascular endothelial growth factor (VEGF) 625724