EGLN2
Egl-9 Family Hypoxia Inducible Factor 2
Gene Information Card
| Symbol | EGLN2 |
|---|---|
| Full Name | Egl-9 Family Hypoxia Inducible Factor 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 112398 ncbi.nlm.nih.gov/gene/112398 |
| Ensembl ID | ENSG00000105568 |
| UniProt ID | Q96KS0 |
| OMIM ID | 606424 |
| HGNC ID | 14660 |
| Aliases | HIF-PH2, PHD1, HPH-2, EIT6 |
Description
EGLN2 encodes a member of the Egl-9 family of prolyl hydroxylases that regulate the hypoxia-inducible factor (HIF) pathway. Under normoxic conditions, EGLN2 hydroxylates HIF-1α and HIF-2α on specific proline residues, targeting them for ubiquitination and proteasomal degradation. This oxygen-dependent enzyme plays a critical role in cellular oxygen sensing, metabolism, and angiogenesis. EGLN2 is widely expressed and has been implicated in cancer, ischemic diseases, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal cell carcinoma | Loss of EGLN2 function leads to HIF stabilization and increased expression of angiogenic and proliferative genes | PMID: 21575862 |
| Breast cancer | EGLN2 overexpression correlates with poor prognosis and altered hypoxia signaling | PMID: 26921328 |
| Ischemic stroke | EGLN2 polymorphisms associated with risk and outcome | PMID: 23472147 |
| Polycythemia | Germline mutations in EGLN2 cause familial erythrocytosis via HIF dysregulation | PMID: 18451336 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 6.5 | Low |
| Brain | 4.2 | Low |
| Lung | 8.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.4 | Moderate expression |
| HepG2 | 13.7 | High expression |
| MCF7 | 9.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.950C>T (p.Pro317Leu) | Missense | <0.01% | Reduced hydroxylase activity; associated with erythrocytosis |
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Impaired HIF binding; loss-of-function |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that reduce or abolish prolyl hydroxylase activity, leading to HIF stabilization and increased hypoxic signaling.
Gain of Function (GOF)
Not well characterized; rare variants may enhance activity but no confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations have been described for EGLN2.
View complete mutation data：
Gene Ontology (GO)
| • Prolyl 4-hydroxylase activity (GO:0019793) | • Hypoxia-inducible factor prolyl hydroxylase activity (GO:0019800) |
| • Oxygen-dependent protein degradation (GO:0006515) | • Cellular response to hypoxia (GO:0071456) |
| • Angiogenesis (GO:0001525) |
Pathways
• HIF-1 signaling pathway (KEGG:04066)
• Oxygen sensing pathway (Reactome: R-HSA-1234176)
• VEGF signaling pathway (KEGG:04370)
Protein Summary
EGLN2 (PHD1) is a 426-amino acid protein containing a conserved Fe(II)- and 2-oxoglutarate-dependent dioxygenase domain. It hydroxylates HIF-α subunits at proline residues 402 and 564, enabling VHL-mediated degradation. The enzyme is localized primarily in the nucleus and cytoplasm, with expression regulated by oxygen tension. EGLN2 also interacts with other proteins such as OS-9 and ING4, modulating its activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EGLN2 Knockout HEK293 Cell Line | EDJ-KQ1498 | Human | 112398 | Details Get a Quote |
| EGLN2 Knockout A-549 Cell Line | EDJ-KQ21106 | Human | 112398 | Details Get a Quote |
| EGLN2 Knockout HCT 116 Cell Line | EDJ-KQ21107 | Human | 112398 | Details Get a Quote |
| EGLN2 Knockout HeLa Cell Line | EDJ-KQ21108 | Human | 112398 | Details Get a Quote |
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