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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE HIF-2α is stabilized in von Hippel-Lindau (VHL)-deficient renal cell carcinoma through mechanisms that require ongoing mRNA translation. 22869144 2013
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Our findings also suggest that MTHFD2 and HIF-2α form a positive feedforward loop in RCC, promoting metabolic reprograming and tumor growth. 31289360 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Herein, we provide mechanistic evidence that HIF-2α can be degraded in cytoplasm under hypoxic conditions via the 26S proteasome and that MDM2 is the E3 ligase which induces the hypoxic degradation of HIF-2α in PI-3K-dependent manner in VHL-deficient RCC cells. 25578041 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE A small molecule inhibitor that binds to HIF-2α and blocks dimerization with HIF-1β is in clinical trials for the treatment of renal cell carcinoma. 30625281 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma. 20032376 2009
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Our data provide insight into the link between HIF2α, the ITPR1-related pathway, and natural immunity and strongly suggest a role for the HIF2α/ITPR1 axis in regulating RCC cell survival. 25297632 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE Furthermore, we demonstrate that peroxisome abundance is reduced in VHL-deficient human clear cell renal cell carcinomas with high HIF-2α levels. 25440060 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE Proteomic analysis of signaling network regulation in renal cell carcinomas with differential hypoxia-inducible factor-2α expression. 23940778 2013
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Cell culture metabolomics analysis was utilized to determined effect of VHL and HIF-1α or HIF-2α on metabolism of renal cell carcinomas (RCC). 26620126 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease BEFREE Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. 21131975 2011
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease BEFREE Somatic mutations in HIF2A have been reported in PPGLs associated with polycythemia, which have been reported to also be present in patients with RCCs and HBs. 26514359 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE HIF2α is involved in the expansion of CXCR4-positive cancer stem-like cells in renal cell carcinoma. 26439684 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Androgen receptor (AR) signaling may promote renal cell carcinoma (RCC) progression via altered HIF-2α/VEGF signaling. 27848972 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease BEFREE PHGDH as a Key Enzyme for Serine Biosynthesis in HIF2α-Targeting Therapy for Renal Cell Carcinoma. 28951458 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE Nox4 is critical for hypoxia-inducible factor 2-alpha transcriptional activity in von Hippel-Lindau-deficient renal cell carcinoma. 16230378 2005
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease BEFREE Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1). 31231134 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE New treatment modalities targeted to HIF-1α and HIF-2α might be planned as well as VEGF-targeted therapies in the management of clear cell renal cell carcinomas. 27583351 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE While HIF1α can act as a ccRCC tumor suppressor, HIF2α has emerged as the key HIF isoform that is essential for ccRCC tumor progression. 29938199 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE EPAS1 was detected in all of the RCC cell lines examined. 11301389 2001
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE Restricted expression of miR-30c-2-3p and miR-30a-3p in clear cell renal cell carcinomas enhances HIF2α activity. 24189146 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE We show that DNA-PKcs over-expression regulates mTORC2-AKT activation, HIF-2α expression and RCC cell proliferation. 27412013 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE We find that DDT expression mirrors MIF expression in ccRCC tumor sections with high correlation and that, mechanistically, DDT is a novel hypoxia-inducible gene and direct target of HIF1α and HIF2α. 24356968 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 GeneticVariation disease BEFREE HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma. 29172931 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 Biomarker disease BEFREE Knockdowns of TRAIL averted apoptotic cell death caused by HIF2-alpha inhibition in starvation-resistant RCCs. 29796174 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 AlteredExpression disease BEFREE In determining the critical functions for HIF2α expression in RCC cells, the NADPH oxidase NOX4 has been identified, but the pathogenic contributions of NOX4 to RCC have not been evaluated directly. 24755467 2014