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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EGLN2
egl-9 family hypoxia inducible factor 2
Chromosome 19 · 19q13.2
NCBI Gene: 112398Ensembl: ENSG00000269858.7HGNC: HGNC:14660UniProt: Q96KS0
115PubMed Papers
20Diseases
4Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of protein catabolic processnucleusresponse to hypoxiapeptidyl-proline hydroxylation to 4-hydroxy-L-prolineanemia (phenotype)chronic kidney diseaseanemiakidney disease
✦AI Summary

EGLN2 (egl-9 family hypoxia inducible factor 2) is a prolyl hydroxylase that functions as a critical cellular oxygen sensor. Under normoxic conditions, EGLN2 catalyzes hydroxylation of proline residues in target proteins including HIF1A and HIF2A at their oxygen-dependent degradation domains, targeting them for proteasomal degradation via the von Hippel-Lindau complex 123. During hypoxia, reduced EGLN2 activity allows HIF stabilization, nuclear translocation, and activation of hypoxia-responsive genes 123. Beyond HIF regulation, EGLN2 hydroxylates additional substrates including CEP192 (regulating cilia formation) and mediates NF-κB activation under hypoxic conditions 45. Clinically, EGLN2 dysregulation associates with multiple diseases. In amyotrophic lateral sclerosis, EGLN2 downregulation protects motor neurons by normalizing astrocytic interferon signaling 6. EGLN2 inhibition also promotes ferroptosis in cancer cells through ARNTL-mediated pathways 7, while YAP1-mediated EGLN2 suppression drives aerobic glycolysis in pancreatic cancer 8. In kidney disease, concurrent PHD inactivation (including EGLN2) promotes maladaptive repair through glycolysis-dependent mechanisms 9. EGLN2 promoter polymorphisms associate with cancer risk, particularly digestive system malignancies in Asian populations 10. EGLN2 DNA methylation correlates with lung adenocarcinoma prognosis through HIF1A interaction 11.

Sources cited
1
In amyotrophic lateral sclerosis, EGLN2 downregulation protects motor neurons by normalizing astrocytic interferon signaling .
PMID: 39255062
2
EGLN2 inhibition also promotes ferroptosis in cancer cells through ARNTL-mediated pathways , while YAP1-mediated EGLN2 suppression drives aerobic glycolysis in pancreatic cancer .
PMID: 31355331
3
EGLN2 inhibition also promotes ferroptosis in cancer cells through ARNTL-mediated pathways , while YAP1-mediated EGLN2 suppression drives aerobic glycolysis in pancreatic cancer .
PMID: 39647834
4
In kidney disease, concurrent PHD inactivation (including EGLN2) promotes maladaptive repair through glycolysis-dependent mechanisms .
PMID: 39621585
5
EGLN2 promoter polymorphisms associate with cancer risk, particularly digestive system malignancies in Asian populations .
PMID: 31414584
6
EGLN2 DNA methylation correlates with lung adenocarcinoma prognosis through HIF1A interaction .
PMID: 30665327
Disease Associationsⓘ20
anemia (phenotype)Open Targets
0.59Moderate
chronic kidney diseaseOpen Targets
0.59Moderate
anemiaOpen Targets
0.55Moderate
kidney diseaseOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.28Weak
myelodysplastic syndromeOpen Targets
0.18Weak
genetic disorderOpen Targets
0.15Weak
neoplasmOpen Targets
0.14Weak
smoking behaviorOpen Targets
0.10Weak
osteoarthritisOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
autism spectrum disorderOpen Targets
0.07Suggestive
coronary artery bypassOpen Targets
0.07Suggestive
peripheral vascular diseaseOpen Targets
0.07Suggestive
ST Elevation Myocardial InfarctionOpen Targets
0.07Suggestive
medical procedureOpen Targets
0.07Suggestive
osteoarthritis, kneeOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets4
DAPRODUSTATApproved
Hypoxia-inducible factor prolyl hydroxylase inhibitor
anemia (phenotype)
MOLIDUSTATApproved
Egl nine homolog 3 inhibitor
anemia (phenotype)
ROXADUSTATApproved
Hypoxia-inducible factor prolyl hydroxylase inhibitor
VADADUSTATApproved
Egl nine homolog 1 inhibitor
Related Genes
EPOProtein interaction95%HIF1AProtein interaction95%SIAH1Protein interaction95%SIAH2Protein interaction95%VHLProtein interaction95%HIF1ANProtein interaction95%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
92%
Ovary
71%
Liver
53%
Heart
26%
Brain
24%
Gene Interaction Network
Click a node to explore
EGLN2EPOHIF1ASIAH1SIAH2VHLHIF1AN
PROTEIN STRUCTURE
Preparing viewer…
PDB5V1B · 2.49 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.67Intermediate
Observed/Expected LoF0.38 [0.25–0.58]
RankingsWhere EGLN2 stands among ~20K protein-coding genes
  • #4,113of 20,598
    Most Researched115 · top quartile
  • #414of 1,025
    FDA-Approved Drug Targets4
  • #3,896of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedEGLN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Clockophagy is a novel selective autophagy process favoring ferroptosis.
PMID: 31355331
Sci Adv · 2019
1.00
2
Targeting EGLN2/PHD1 protects motor neurons and normalizes the astrocytic interferon response.
PMID: 39255062
Cell Rep · 2024
0.90
3
Postischemic inactivation of HIF prolyl hydroxylases in endothelium promotes maladaptive kidney repair by inducing glycolysis.
PMID: 39621585
J Clin Invest · 2024
0.80
4
Association between an indel polymorphism within the distal promoter of EGLN2 and cancer risk: An updated meta-analysis.
PMID: 31414584
Mol Genet Genomic Med · 2019
0.70
5
YAP1 Overexpression Enhances the Aerobic Glycolysis Process via Suppression of EGLN2 in Pancreatic Ductal Adenocarcinoma.
PMID: 39647834
J Gene Med · 2024
0.60