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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EGLN1
egl-9 family hypoxia inducible factor 1
Chromosome 1 · 1q42.2
NCBI Gene: 54583Ensembl: ENSG00000135766.10HGNC: HGNC:1232UniProt: Q9GZT9
246PubMed Papers
21Diseases
5Drugs
15Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
hypoxia-inducible factor-proline dioxygenase activityresponse to hypoxiaintracellular oxygen homeostasisferrous iron bindingerythrocytosis, familial, 3anemia (phenotype)chronic kidney diseaseanemia
✦AI Summary

EGLN1 (egl-9 family hypoxia inducible factor 1) encodes PHD2 (prolyl hydroxylase domain protein 2), a critical oxygen sensor that regulates hypoxia-inducible factor (HIF) signaling. Under normoxic conditions, EGLN1/PHD2 catalyzes the hydroxylation of specific proline residues in HIF-1α and HIF-2α, targeting them for proteasomal degradation 1. This hydroxylation requires α-ketoglutarate as a cofactor and can be competitively inhibited by metabolites like 2-hydroxyglutarate and lactate 23. During hypoxia, reduced PHD2 activity allows HIF stabilization, leading to activation of hypoxia-response genes involved in angiogenesis and cellular adaptation 4. Loss-of-function mutations in EGLN1 cause familial erythrocytosis by constitutively activating erythropoietin signaling 1, while specific variants contribute to high-altitude adaptation in Tibetan populations 5. The protein plays roles beyond oxygen sensing, including regulation of hair follicle growth 6 and potential involvement in polycystic ovarian syndrome pathogenesis 7. Therapeutically, EGLN1 represents a promising target for angiogenic therapies and metabolic disorders through modulation of the HIF pathway 4.

Sources cited
1
EGLN1/PHD2 hydroxylates HIF proteins for degradation and loss-of-function mutations cause familial erythrocytosis
PMID: 33840141
2
2-hydroxyglutarate competitively inhibits α-ketoglutarate-dependent dioxygenases including PHD2
PMID: 21251613
3
Lactate directly binds PHD2 catalytic domain and inhibits its activity, stabilizing HIF-1α
PMID: 36064857
4
EGLN1 knockout leads to strong proangiogenic response through HIF-1α pathway activation
PMID: 37398294
5
EGLN1 variants are associated with high-altitude adaptation in Tibetan populations
PMID: 20466884
6
EGLN1 downregulation promotes hair follicle growth and dermal papilla cell proliferation
PMID: 35862273
7
EGLN1 levels are elevated in PCOS and represents a potential therapeutic target
PMID: 39541979
Disease Associationsⓘ21
erythrocytosis, familial, 3Open Targets
0.72Strong
anemia (phenotype)Open Targets
0.60Moderate
chronic kidney diseaseOpen Targets
0.59Moderate
anemiaOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
autosomal dominant secondary polycythemiaOpen Targets
0.37Weak
kidney diseaseOpen Targets
0.33Weak
myelodysplastic syndromeOpen Targets
0.19Weak
familial polycythemiaOpen Targets
0.18Weak
neoplasmOpen Targets
0.11Weak
melanomaOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.08Suggestive
Pallister-Hall syndromeOpen Targets
0.08Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
glioblastomaOpen Targets
0.07Suggestive
Erythrocytosis, familial, 3UniProt
Pathogenic Variants15
NM_022051.3(EGLN1):c.115_121del (p.Ser39fs)Pathogenic
Erythrocytosis, familial, 3|not provided
★★☆☆2024→ Residue 39
NM_022051.3(EGLN1):c.1044_1045insATTTTCCAGAAAATTTCCAGAA (p.Gly349fs)Pathogenic
Erythrocytosis, familial, 3
★☆☆☆2025→ Residue 349
NM_022051.3(EGLN1):c.840dup (p.Arg281fs)Pathogenic
Erythrocytosis, familial, 3
★☆☆☆2025→ Residue 281
NM_022051.3(EGLN1):c.1137del (p.Tyr380fs)Pathogenic
Erythrocytosis, familial, 3
★☆☆☆2025→ Residue 380
NM_022051.3(EGLN1):c.461C>A (p.Ser154Ter)Pathogenic
Erythrocytosis, familial, 3
★☆☆☆2025→ Residue 154
NM_022051.3(EGLN1):c.174C>A (p.Cys58Ter)Pathogenic
Erythrocytosis, familial, 3
★☆☆☆2025→ Residue 58
NM_022051.3(EGLN1):c.1133del (p.Pro378fs)Pathogenic
Erythrocytosis, familial, 3
★☆☆☆2025→ Residue 378
NM_022051.3(EGLN1):c.494del (p.Pro165fs)Pathogenic
Erythrocytosis, familial, 3
★☆☆☆2025→ Residue 165
NM_022051.3(EGLN1):c.373_403del (p.Ser125fs)Pathogenic
Erythrocytosis, familial, 3
★☆☆☆2025→ Residue 125
NM_022051.3(EGLN1):c.773G>A (p.Trp258Ter)Pathogenic
Erythrocytosis, familial, 3
★☆☆☆2025→ Residue 258
NM_022051.3(EGLN1):c.1012-2A>CLikely pathogenic
not provided
★☆☆☆2024
NM_022051.3(EGLN1):c.774G>A (p.Trp258Ter)Pathogenic
Erythrocytosis, familial, 3
★☆☆☆2024→ Residue 258
NM_022051.3(EGLN1):c.1010dup (p.Val338fs)Pathogenic
Erythrocytosis, familial, 3
★☆☆☆2021→ Residue 338
NM_022051.3(EGLN1):c.1121A>G (p.His374Arg)Pathogenic
Erythrocytosis, familial, 3
☆☆☆☆2008→ Residue 374
NM_022051.3(EGLN1):c.1112G>A (p.Arg371His)Pathogenic
Erythrocytosis, familial, 3
☆☆☆☆2007→ Residue 371
View on ClinVar ↗
Drug Targets5
DAPRODUSTATApproved
Hypoxia-inducible factor prolyl hydroxylase inhibitor
anemia (phenotype)
ENARODUSTATApproved
Egl nine homolog 1 inhibitor
MOLIDUSTATApproved
Egl nine homolog 3 inhibitor
anemia (phenotype)
ROXADUSTATApproved
Hypoxia-inducible factor prolyl hydroxylase inhibitor
VADADUSTATApproved
Egl nine homolog 1 inhibitor
Related Genes
PTGES3Protein interaction100%ELOCProtein interaction99%LIMD1Protein interaction99%HIF1AProtein interaction95%SIAH2Protein interaction95%VHLProtein interaction95%
Tissue Expression6 tissues
Heart
100%
Brain
72%
Liver
49%
Ovary
35%
Lung
27%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
EGLN1PTGES3ELOCLIMD1HIF1ASIAH2VHL
PROTEIN STRUCTURE
Preparing viewer…
PDB7Q5V · 1.17 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.49 [0.34–0.74]
RankingsWhere EGLN1 stands among ~20K protein-coding genes
  • #1,572of 20,598
    Most Researched246 · top 10%
  • #286of 1,025
    FDA-Approved Drug Targets5
  • #2,436of 5,498
    Most Pathogenic Variants15
  • #5,797of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedEGLN1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of α-ketoglutarate-dependent dioxygenases.
PMID: 21251613
Cancer Cell · 2011
1.00
2
Genetic evidence for high-altitude adaptation in Tibet.
PMID: 20466884
Science · 2010
0.90
3
Congenital erythrocytosis.
PMID: 33840141
Eur J Haematol · 2021
0.80
4
Harnessing
PMID: 37398294
bioRxiv · 2023
0.70
5
Postischemic inactivation of HIF prolyl hydroxylases in endothelium promotes maladaptive kidney repair by inducing glycolysis.
PMID: 39621585
J Clin Invest · 2024
0.68