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epas1
EPAS1
EPAS1 encodes HIF-2α (bHLH-PAS TF) stabilized under hypoxia or VHL loss; PHD2 hydroxylation → VHL-mediated degradation; activates EPO/VEGF; belzutifan (HIF-2α inhibitor) FDA-approved for VHL disease-associated RCC; EPAS1 GOF mutations cause hereditary erythrocytosis.
Entry Metadata
| Field | Value |
|---|---|
| ID | epas1 |
| Name | EPAS1 |
| Status | draft |
| Last reviewed | 2026-06-06 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Jonasch E, Donskov F, Iliopoulos O, et al. Belzutifan for renal cell carcinoma in von Hippel-Lindau disease. N Engl J Med. 2021;385(22):2036-2046. · PubMed 34818478
- Choueiri TK, Powles T, Albiges L, et al. Belzutifan versus everolimus for advanced renal-cell carcinoma. N Engl J Med. 2023;388(10):869-881. · PubMed 36827464