| Gene Symbol | EGLN2 |
|---|---|
| Entrez Gene | 112398 |
| Alt Symbol | EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | egl-9 family hypoxia-inducible factor 2 |
| Other Description | HIF-prolyl hydroxylase 1|egl nine homolog 2|estrogen-induced tag 6|hypoxia-inducible factor prolyl hydroxylase 1|prolyl hydroxylase domain-containing protein 1 |
| Swissprots | Q9BV14 Q8WWY4 Q96KS0 A8K5S0 |
| Accessions | CAD58204 CAF02209 EAW57007 EAW57008 EAW57009 EAW57010 EAW57011 Q96KS0 AA994838 AJ310544 CAC42510 AK025396 AK026863 AK074408 AK098182 AK314741 BAG37282 AL133009 CAB61353 AL832506 AM393809 CAL38684 AY040565 AAK82943 BC001723 AAH01723 BC036051 AAH36051 BG719538 DA300182 DB049419 NM_053046 NP_444274 NM_080732 NP_542770 NM_017555 |
| Function | Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN2 is involved in regulating hypoxia tolerance and apoptosis in cardiac and skeletal muscle. Also regulates susceptibility to normoxic oxidative neuronal death. Links oxygen sensing to cell cycle and primary cilia formation by hydroxylating the c |
| Subcellular Location | Nucleus {ECO:0000269|PubMed:12163023, ECO:0000269|PubMed:12615973, ECO:0000269|PubMed:19339211, ECO:0000269|PubMed:19631610}. |
| Tissue Specificity | Expressed in adult and fetal heart, brain, liver, lung, skeletal muscle, and kidney. Also expressed in testis and placenta. Highest levels in adult brain, placenta, lung, kidney, and testis. Expressed in hormone responsive tissues, including normal and cancerous mammary, ovarian and prostate epithelium. {ECO:0000269|PubMed:12163023}. |
| Top Pathways | Renal cell carcinoma |