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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These genes are orthologs of the EGLN2 and AXL genes that bracket the human cluster.
Finally, the presumably functional mouse 2t4 has the same position on the EGLN2 end of the cluster as does the human 2T2P and is likely to be its ortholog (Nelson et al.