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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EGLN3
egl-9 family hypoxia inducible factor 3
Chromosome 14 · 14q13.1
NCBI Gene: 112399Ensembl: ENSG00000129521.15HGNC: HGNC:14661UniProt: B3KVT0
141PubMed Papers
20Diseases
4Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of ferroptosiscytoplasmprotein bindingprotein hydroxylationanemia (phenotype)chronic kidney diseaseanemiakidney disease
✦AI Summary

EGLN3 (egl-9 family hypoxia inducible factor 3) is a prolyl hydroxylase that serves as a cellular oxygen sensor by catalyzing the hydroxylation of proline residues in multiple target proteins 1. Under normoxic conditions, EGLN3 hydroxylates hypoxia-inducible factor alpha proteins (HIF1A and HIF2A) at specific oxygen-dependent degradation domains, targeting them for proteasomal degradation via the von Hippel-Lindau ubiquitination complex 1. During hypoxia, this hydroxylation is attenuated, allowing HIFs to escape degradation and activate hypoxia-responsive gene expression 1. Beyond HIF regulation, EGLN3 hydroxylates pyruvate kinase M2 (PKM2), enhancing its function as a HIF-1 coactivator and promoting glucose metabolism reprogramming in cancer cells 1. EGLN3 also hydroxylates TFAM, a regulator of mitochondrial biogenesis, with VHL protein stabilizing hydroxylated TFAM 2. Clinically, EGLN3 is implicated in multiple pathological conditions. It is overexpressed in lung adenocarcinoma and predicts resistance to both immunotherapy and chemotherapy 3. In pulmonary hypertension, endothelial EGLN3 upregulation promotes vascular remodeling through EGFR-mediated PI3K/AKT and MAPK pathway activation 4. Additionally, EGLN3 contributes to chr14 airway epithelial hypoxia in muco-obstructive lung diseases by promoting mucus hyperconcentration 5.

Sources cited
1
EGLN3 is a prolyl hydroxylase that hydroxylates HIF proteins and PKM2, regulating glucose metabolism in cancer cells
PMID: 21620138
2
EGLN3 overexpression in lung adenocarcinoma predicts resistance to immunotherapy and chemotherapy
PMID: 38340438
3
EGLN3 upregulation in pulmonary hypertension promotes endothelial dysfunction and vascular remodeling
PMID: 39985019
4
EGLN3 contributes to mucus hyperconcentration in chronic airway epithelial hypoxia
PMID: 37285404
5
EGLN3 hydroxylates TFAM to regulate mitochondrial biogenesis in an oxygen-dependent manner
PMID: 35760869
Disease Associationsⓘ20
anemia (phenotype)Open Targets
0.59Moderate
chronic kidney diseaseOpen Targets
0.59Moderate
anemiaOpen Targets
0.55Moderate
kidney diseaseOpen Targets
0.33Weak
open-angle glaucomaOpen Targets
0.31Weak
placenta praeviaOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.28Weak
vitreous body diseaseOpen Targets
0.27Weak
Abnormality of the skeletal systemOpen Targets
0.26Weak
Abruptio PlacentaeOpen Targets
0.26Weak
liver diseaseOpen Targets
0.25Weak
eye diseaseOpen Targets
0.24Weak
facial painOpen Targets
0.23Weak
placental retentionOpen Targets
0.21Weak
nephrotic syndromeOpen Targets
0.20Weak
myelodysplastic syndromeOpen Targets
0.18Weak
poisoningOpen Targets
0.18Weak
bipolar disorderOpen Targets
0.18Weak
response to antihypertensive drugOpen Targets
0.16Weak
neoplasmOpen Targets
0.11Weak
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
EPAS1Protein interaction100%HIF1AProtein interaction100%SIAH2Protein interaction98%WDR83Protein interaction95%VHLProtein interaction95%HIF3AProtein interaction95%
Tissue Expression6 tissues
Heart
100%
Brain
16%
Lung
4%
Liver
2%
Ovary
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
EGLN3EPAS1HIF1ASIAH2WDR83VHLHIF3A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q3T1B0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.49 [0.32–0.80]
RankingsWhere EGLN3 stands among ~20K protein-coding genes
  • #3,251of 20,598
    Most Researched141 · top quartile
  • #407of 1,025
    FDA-Approved Drug Targets4
  • #6,650of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedEGLN3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Obesity Shapes Metabolism in the Tumor Microenvironment to Suppress Anti-Tumor Immunity.
PMID: 33301708
Cell · 2020
1.00
2
Insights into male androgenetic alopecia using comparative transcriptome profiling: hypoxia-inducible factor-1 and Wnt/β-catenin signalling pathways.
PMID: 35862273
Br J Dermatol · 2022
0.90
3
Pyruvate kinase M2 is a PHD3-stimulated coactivator for hypoxia-inducible factor 1.
PMID: 21620138
Cell · 2011
0.80
4
Chronic airway epithelial hypoxia exacerbates injury in muco-obstructive lung disease through mucus hyperconcentration.
PMID: 37285404
Sci Transl Med · 2023
0.70
5
Identification of the key DNA damage response genes for predicting immunotherapy and chemotherapy efficacy in lung adenocarcinoma based on bulk, single-cell RNA sequencing, and spatial transcriptomics.
PMID: 38340438
Comput Biol Med · 2024
0.60