EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE While activation of HIF-1α decreases intestinal inflammation and is beneficial in colitis, activation of HIF-2α exacerbates colitis and increases colon carcinogenesis in animal models, primarily due to the role of epithelial HIF-2α in mounting a potent inflammatory response. 31241981 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE miRNA-182-5p, via HIF2α, contributes to arsenic carcinogenesis: evidence from human renal epithelial cells. 30334557 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE HIF-2α expression may be associated with the carcinogenesis of CRC, which is higher in males than in females, negatively linked to tumor differentiation, and correlated with a worse DFS of CRC. 30021192 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE Here, we describe novel experimental reporter systems that allow interrogation of the endogenous expression of HIF2A, a critical driver of renal oncogenesis. 30104738 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE The distinction between the roles of HIF-1α and HIF-2α in tumorigenesis is not clearly delineated. 29098039 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Overall, our results identified HIF-2α as a direct target gene for E2F3 upregulation, which was critical for carcinogenesis and progression of ccRCC. 28903320 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE Moreover, we found that (i) stabilization of HIF-1α and HIF-2α, which are involved in mediation of the hypoxic responses in the majority of cell types, (ii) up-regulation of MYCC, a key onco-protein whose dysregulation occurs in ~70% of human tumors, and (iii) accumulation of stabilized p53, which is commonly altered in human cancers, constitute hallmarks of our tumor model, and might represent the basis for CNS-PNET tumorigenesis in this model. 28249000 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Our results indicate that HPV16 E6/E7 indirectly upregulated the expression of vascular endothelial growth factor by inhibition of liver kinase B1 expression and upregulation of hypoxia-inducible factor 2α expression, thus propose a human papillomavirus-liver kinase B1-hypoxia-inducible factor 2α-vascular endothelial growth factor axis for the tumorigenesis of lung cancer. 28720067 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Using selective peptide inhibitors of the CXCL1-CXCR2 signaling axis identified HIF-2α-dependent neutrophil recruitment as an essential mechanism to increase colon carcinogenesis. 27956697 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE The main aim of this perspective is to address the possibility of HIF-2α antagonists in the management of tumours, beyond clear cell renal cell carcinoma, where the dysfunctional hypoxia-signalling pathway, especially HIF-2α, referred here as the Achilles' heel, plays a unique role in tumorigenesis and other disorders. 28946040 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE Taken together, these results demonstrate that miR-558 facilitates the expression of HIF-2α through bindingto its 5'-UTR, thus promoting the tumorigenesis and aggressiveness of NB. 27276678 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE PT2399 dissociated HIF-2 (an obligatory heterodimer of HIF-2α-HIF-1β) in human ccRCC cells and suppressed tumorigenesis in 56% (10 out of 18) of such lines. 27595394 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE A MALAT1/HIF-2α feedback loop contributes to arsenite carcinogenesis. 26735578 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Taken together, these data suggest that HIF2α mediates hypoxia-induced cancer growth/metastasis and that EFEMP1 is a downstream effector of hypoxia-induced HIF2α during breast tumorigenesis. 27270657 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Overexpression of HIF-1α and HIF-2α are associated with the carcinogenesis of PTC, served as potential biomarkers of PTC. 26846782 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Autophagy mediates HIF2α degradation and suppresses renal tumorigenesis. 24998849 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE These results suggest that HIF-2α is involved in gastric carcinogenesis and disease progression and is a potential therapeutic target for gastric carcinoma. 25730079 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation phenotype BEFREE Recent data suggest that both clusters are interconnected via the HIF signaling and its role in tumorigenesis is supported by newly described somatic and germline mutations in HIF2A gene in patients with PHEOs/PGLs associated with polycythemia, and in some of them also with somatostatinoma. 24908231 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Hypoxia-inducible factor-2α (also called endothelial periodic acid-Schiff domain protein 1 [EPAS1]) seems to play an important role in some carcinogenesis, though there is no information on the relationship between single nucleotide polymorphism of EPAS1 and lung cancer development. 25436804 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE NADPH oxidase NOX4 supports renal tumorigenesis by promoting the expression and nuclear accumulation of HIF2α. 24755467 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Hypoxia inducible factor-2α (HIF-2α) has a critical role in renal tumorigenesis. 22869144 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE PanIN-specific regulation of Wnt signaling by HIF2α during early pancreatic tumorigenesis. 23749643 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Further analysis showed that dysregulation of the intestinal iron absorption transporter divalent metal transporter-1 (DMT-1) was a critical event in HIF-2α-mediated colon carcinogenesis. 22419665 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE The hypoxic J cells had high expression levels of HIF-2α and EGFR as possible mechanisms to promote tumorigenesis. 22768190 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE In clear cell renal cancer, the transcription factor HIF-2α has been shown to have a distinct role in tumorigenesis. 22928967 2012