Gene: EGLN2

112398
EIT6|HIF-PH1|HIFPH1|HPH-1|HPH-3|PHD1
egl-9 family hypoxia inducible factor 2
protein-coding
19q13.2
Ensembl:ENSG00000269858 MIM:606424 Vega:OTTHUMG00000182703 UniprotKB:Q96KS0
NC_000019.10
PubMed
0   ANCO-SNPs
ND
8   
NA (AD)  NA (ND)   (Frontal_Cortex)
7.995e-2 (AD)  4.430e-3 (ND)

DNA Methylation

Probe Locus(GRCh37) Gene Region p-val Trait PubMed ID
cg03287692chr19:41307228EGLN2Promoter2.742e-4Alcohol use disorders26763658
cg08080060chr19:41307090EGLN2Promoter5.712e-4Alcohol use disorders26763658
cg08689929chr19:41310517EGLN26.600e-12Smoking27651444

Gene Expression in Different Tissues

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
ECSIT0.945
COASY0.941
MON1A0.94
CTBP10.94
WIPI20.939
YIF1B0.937
CDIPT0.937
MAP7D10.934
DDRGK10.933
SCYL10.933

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.714
OR4F29-0.668
IL18RAP-0.419
KCNJ15-0.391
TFPI2-0.377
CEACAM3-0.374
KLRB1-0.373
HBD-0.372
VNN2-0.364
MMP9-0.363

Drugs/Compounds

ID Drug Name Drug Type CAS Num Status Role
DB00126Vitamin CSmall Molecule50-81-7Approved|NutraceuticalTarget
DB04847RoxadustatSmall MoleculeInvestigationalTarget
ID Drug Name Action PubMed
C0252051,10-phenanthroline"1,10-phenanthroline results in decreased expression of EGLN2 mRNA"19502547
C5478585-n-butyl-pyrazolo(1,5-a)pyrimidine"5-n-butyl-pyrazolo(1,5-a)pyrimidine metabolite binds to EGLN2 protein"19928966
D000643Ammonium ChlorideAmmonium Chloride affects the expression of EGLN2 mRNA16483693
C547126AZM551248AZM551248 results in increased expression of EGLN2 mRNA22323515
D001507BeclomethasoneBeclomethasone results in increased expression of EGLN2 mRNA23656298
D001554BenzeneBenzene results in increased expression of EGLN2 mRNA19162166
D001564Benzo(a)pyreneBenzo(a)pyrene results in decreased expression of EGLN2 mRNA20127859
D001564Benzo(a)pyreneBenzo(a)pyrene results in increased expression of EGLN2 mRNA22228805
C006780bisphenol Abisphenol A results in increased expression of EGLN2 mRNA20678512
C006780bisphenol Abisphenol A results in decreased expression of EGLN2 mRNA25181051
C006780bisphenol Abisphenol A results in increased methylation of EGLN2 gene28505145
D000068579CelecoxibCelecoxib results in decreased expression of EGLN2 mRNA28201806
D007464ClioquinolClioquinol results in decreased expression of EGLN2 mRNA19502547
C018021cobaltous chloridecobaltous chloride results in decreased expression of EGLN2 mRNA15695372
C018021cobaltous chloridecobaltous chloride results in decreased expression of EGLN2 protein22982409
C026305cobalt sulfatecobalt sulfate results in decreased expression of EGLN2 mRNA19502547
D002945CisplatinCisplatin results in decreased expression of EGLN2 mRNA27392435
D002117CalcitriolCalcitriol results in increased expression of EGLN2 mRNA21592394
D002117Calcitriol[Testosterone co-treated with Calcitriol] results in increased expression of EGLN2 mRNA21592394
C051904dinophysistoxin 1dinophysistoxin 1 results in increased expression of EGLN2 mRNA28939011
D004997Ethinyl Estradiol[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EGLN2 mRNA17942748
C069837fullerene C60fullerene C60 results in increased expression of EGLN2 mRNA19167457
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in decreased expression of EGLN2 mRNA26011545
C017096n-butoxyethanoln-butoxyethanol results in increased expression of EGLN2 mRNA19812364
D009532NickelNickel results in increased expression of EGLN2 mRNA20053437
C028007nickel monoxidenickel monoxide results in increased expression of EGLN2 mRNA19167457
D010269ParaquatParaquat results in decreased expression of EGLN2 mRNA21371552
C006253pirinixic acidpirinixic acid results in increased expression of EGLN2 mRNA18445702
C089730rosiglitazonerosiglitazone results in increased expression of EGLN2 mRNA24338020
C089730rosiglitazonerosiglitazone results in increased expression of EGLN2 protein24338020
D012999SomanSoman results in increased expression of EGLN2 mRNA19281266
D013739Testosterone[Testosterone co-treated with Calcitriol] results in increased expression of EGLN2 mRNA21592394
D013739TestosteroneTestosterone results in increased expression of EGLN2 mRNA21592394
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of EGLN2 mRNA21570461
D013749Tetrachlorodibenzodioxin[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EGLN2 mRNA17942748
D014520UrethaneUrethane results in increased expression of EGLN2 mRNA28818685
D014635Valproic AcidValproic Acid results in increased methylation of EGLN2 gene29154799
C025643vinclozolinvinclozolin results in decreased expression of EGLN2 mRNA23034163
C025643vinclozolinvinclozolin results in increased expression of EGLN2 mRNA22615374
D014810Vitamin EVitamin E results in increased expression of EGLN2 mRNA19244175
C088658zoledronic acidzoledronic acid results in increased expression of EGLN2 mRNA20977926

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005515protein binding-IPI15474027  16511565  17353276  22286099  
GO:0008198ferrous iron binding-IDA28594552  
GO:0008198ferrous iron binding-NAS12039559  
GO:0016706oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors-IDA11595184  22955912  
GO:0019826oxygen sensor activity-IDA11595184  
GO:0031418L-ascorbic acid binding-IEA-  
GO:0031545peptidyl-proline 4-dioxygenase activity-EXP12615973  12788921  
GO:0031545peptidyl-proline 4-dioxygenase activity-IDA11598268  12039559  
GO ID GO Term Qualifier Evidence PubMed
GO:0001558regulation of cell growth-NAS11850811  
GO:0001666response to hypoxia-IDA11595184  
GO:0018401peptidyl-proline hydroxylation to 4-hydroxy-L-proline-IDA11598268  12039559  
GO:0030520intracellular estrogen receptor signaling pathway-NAS11850811  
GO:0043523regulation of neuron apoptotic process-IMP19587290  
GO:0045454cell redox homeostasis-IDA11595184  
GO:0045732positive regulation of protein catabolic process-IDA11595184  
GO:0055114oxidation-reduction process-IEA-  
GO:0061418regulation of transcription from RNA polymerase II promoter in response to hypoxia-TAS-  
GO ID GO Term Qualifier Evidence PubMed
GO:0005634nucleus-IDA11850811  12615973  
GO:0005654nucleoplasm-IDA-  
GO:0005654nucleoplasm-TAS-  
KEGG ID KEGG Term
hsa05200Pathways in cancer
hsa05211Renal cell carcinoma
Reactome ID Reactome Term Evidence
R-HSA-1234174Regulation of Hypoxia-inducible Factor (HIF) by oxygenTAS
R-HSA-1234174Regulation of Hypoxia-inducible Factor (HIF) by oxygenIEA
R-HSA-1234176Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor AlphaTAS
R-HSA-1234176Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor AlphaIEA
R-HSA-2262749Cellular response to hypoxiaTAS
R-HSA-2262749Cellular response to hypoxiaIEA
R-HSA-2262752Cellular responses to stressTAS
R-HSA-2262752Cellular responses to stressIEA
R-HSA-8953897Cellular responses to external stimuliTAS
R-HSA-8953897Cellular responses to external stimuliIEA

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
26407342A Genome-Wide Association Study of a Biomarker of Nicotine Metabolism. (2015)Loukola APLoS Genet
24045616Variants in two adjacent genes, EGLN2 and CYP2A6, influence smoking behavior related to disease risk via different mechanisms. (2014 Jan 15)Bloom AJHum Mol Genet
24498427Smoking dysregulates the human airway basal cell transcriptome at COPD risk locus 19q13.2. (2014)Ryan DMPLoS One
25609945EGLN2 and RNF150 genetic variants are associated with chronic obstructive pulmonary disease risk in the Chinese population. (2015)Ding YInt J Chron Obstruct Pulmon Dis
28884473Pharmacotherapy for smoking cessation: effects by subgroup defined by genetically informed biomarkers. (2017 Sep 8)Schuit ECochrane Database Syst Rev
22080838A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. (2012 Feb 15)Cho MHHum Mol Genet
29092026COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression. (2018 Jan 15)Nedeljkovic IHum Mol Genet
26283763Deep Sequencing of Three Loci Implicated in Large-Scale Genome-Wide Association Study Smoking Meta-Analyses. (2016 May)Clark SLNicotine Tob Res