EGLN2

EGLN2

A gene on chromosome 19q13.2 that encodes a cellular oxygen sensor which catalyses, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. It is involved in regulating hypoxia tolerance, susceptibility to normoxic oxidative neuronal death and apoptosis in cardiac and skeletal muscle.

EGLN2 hydroxylates a specific proline found in each oxygen-dependent degradation (ODD) domains—N-terminal (NODD) and C-terminal (CODD)—of HIF1A; hydroxylated HIFs are then targeted for proteasomal degradation by the von Hippel-Lindau ubiquitination complex. During hypoxia, the hydroxylation reaction is attenuated, allowing HIFs to escape degradation, resulting in translocation to the nucleus, heterodimerisation with HIF1B and increased expression of hypoxy-inducible genes.
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Our preliminary data examining the gene expression of HIF-1-related genes show reduced expression of EGLN2 and HIF1AN, inhibitors of HIF-1[alpha], in septic patients, and increased PDK1 and HIF-1[alpha] in patients who did not survive (Ferreira BL et al., unpublished results).
Zhang, "Egln2 positively regulates mitochondrial function in breast cancer," Molecular & Cellular Oncology, vol.
Furthermore, miR-205 bound to the 3'-UTR of the prolyl hydroxylase 1 (PHD1/EGLN2) gene and suppressed the transcription level of EGLN2, which modulates both intracellular ROS level and ER stress state [69].
It is delimited by the Egln2 gene on the telomeric side and the Axl gene on the centromeric side (Figure 1).
These genes are orthologs of the EGLN2 and AXL genes that bracket the human cluster.
The gene is located at the extreme telomeric end of the mouse cluster, only 8 kb from the Egln2 locus (Figure 1), in the same relative position as the human pseudogene 2T2P.