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: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE Thus, our analysis suggest that with the current available data EPAS1/HIF2α should not be classified as a neuroblastoma oncogene and is less likely to represent a suitable drug target in this disease. 30563765 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 AlteredExpression disease BEFREE These findings demonstrate that binding of HIF-2α to an oxygen-sensitive enhancer in intron 3 stimulates transcription of the WT1 gene in neuroblastoma cells by hypoxia-independent chromatin looping. 30468780 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 AlteredExpression disease BEFREE Both HIF-1α and HIF-2α expression levels have been shown to correlate to patient outcome in various tumor forms and in neuroblastoma, a solid childhood tumor of the sympathetic nervous system, in particular, HIF-2α marks a subpopulation of immature neural crest-like perivascularly located cells and associates with aggressive disease and distant metastasis. 29032465 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE Of particular interest from the list of released factors at hypoxia was the highly divergent homeobox (HDX) transcription factor, that we show inversely correlates with HIF-2α in neuroblastoma cells. 29577908 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 AlteredExpression disease BEFREE Furthermore, HIF-2α is regulated by hypoxia also at the transcriptional level in neuroblastoma and glioma cells. 28284840 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE Thus, contrary to previous studies, our findings indicate an unanticipated tumor-suppressive role for HIF2α in neuroblastoma. 28696319 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 AlteredExpression disease BEFREE Herein, through analyzing the computational algorithm programs, we identified microRNA-558 (miR-558) as a crucial regulator of HIF-2α expression in NB. 27276678 2016
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE Thus, targeting of ERRα and pathways regulating transcriptional HIF-2α are promising therapeutic avenues in neuroblastoma. 25912138 2015
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 AlteredExpression disease BEFREE Clinically, high levels of HIF1A and EPAS1 expression were associated with inferior survival in two NBL microarray datasets, and patient subgroups with lower expression of HIF1A and EPAS1 showed significant enrichment of pathways related to neuronal differentiation. 26057707 2015
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 AlteredExpression disease BEFREE HIF2A mRNA was induced by hypoxia in neuroblastoma cells isolated from metastatic patient-derived tumor xenografts, where HIF2A levels could be reduced by treatment with PI3K and mTORC2 inhibitors. 26432405 2015
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE We inhibited HIF-1α and HIF-2α in neuroblastoma SH-SY5Y cells by siRNA/shRNA approaches. 25148040 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 AlteredExpression disease BEFREE Overexpression or knockdown of miR-145 responsively altered both the mRNA and protein levels of HIF-2α and its downstream genes, cyclin D1, matrix metalloproteinase 14 and vascular endothelial growth factor, in normoxically cultured NB cell lines SH-SY5Y and SK-N-SH. 23222716 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 AlteredExpression disease BEFREE Despite the neuronal derivation of neuroblastomas, we show that neuroblastoma cell lines and specimens express IGF2 and that expression of HIF2A and IGF2 correlates, with the strongest correlation in high-stage tumors. 23479510 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 AlteredExpression disease BEFREE Intermittent hypoxia stimulated the levels of HIF-1α and HIF-2 α proteins and enhanced stem-like properties of neuroblastoma cells. 22363512 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease BEFREE HIF2 alpha reduces growth rate but promotes angiogenesis in a mouse model of neuroblastoma. 17655754 2007
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease LHGDN HIF-2alpha expression in human fetal paraganglia and neuroblastoma: relation to sympathetic differentiation, glucose deficiency, and hypoxia. 15652356 2005