EGLN2

EGLN2
Identifiers
Aliases	EGLN2, EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1, egl-9 family hypoxia inducible factor 2, EIT-6
External IDs	OMIM: 606424; MGI: 1932287; HomoloGene: 14204; GeneCards: EGLN2; OMA:EGLN2 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.2 Start 40,798,996 bp End 40,808,434 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 A3|7 15.83 cM Start 26,858,083 bp End 26,866,227 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis blood spleen right lung apex of heart upper lobe of left lung mucosa of transverse colon primary visual cortex putamen Top expressed in seminiferous tubule entorhinal cortex Ileal epithelium perirhinal cortex choroid plexus of fourth ventricle CA3 field spermatid muscle of thigh Paneth cell crypt of lieberkuhn of small intestine More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 2-oxoglutarate-dependent dioxygenase activity L-ascorbic acid binding iron ion binding dioxygenase activity metal ion binding protein binding oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity ferrous iron binding oxygen gasoreceptor activity peptidyl-proline 4-dioxygenase activity Cellular component nucleoplasm nucleus Biological process response to hypoxia positive regulation of protein catabolic process regulation of neuron apoptotic process peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell redox homeostasis regulation of cell growth regulation of transcription from RNA polymerase II promoter in response to hypoxia intracellular estrogen receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 112398 112406 Ensembl ENSG00000269858 ENSMUSG00000058709 UniProt Q96KS0 Q91YE2 RefSeq (mRNA) NM_080732 NM_017555 NM_053046 NM_053208 NM_001357767 RefSeq (protein) NP_444274 NP_542770 NP_444438 NP_001344696 Location (UCSC) Chr 19: 40.8 – 40.81 Mb Chr 7: 26.86 – 26.87 Mb PubMed search
Wikidata
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Egl nine homolog 2 is a protein that in humans is encoded by the EGLN2 gene. ELGN2 is a alpha-ketoglutarate-dependent hydroxylase, a superfamily of non-haem iron-containing proteins.

The hypoxia inducible factor (HIF) is a transcriptional complex which is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degradation by prolyl hydroxylation. This gene encodes an enzyme responsible for this posttranslational modification. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Further reading

• Semenza GL (2001). "HIF-1, O(2), and the 3 PHDs: how animal cells signal hypoxia to the nucleus". Cell. 107 (1): 1–3. doi:10.1016/S0092-8674(01)00518-9. PMID 11595178.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Jaakkola P, Mole DR, Tian YM, et al. (2001). "Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation". Science. 292 (5516): 468–72. Bibcode:2001Sci...292..468J. doi:10.1126/science.1059796. PMID 11292861.
• Ivan M, Kondo K, Yang H, et al. (2001). "HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing". Science. 292 (5516): 464–8. Bibcode:2001Sci...292..464I. doi:10.1126/science.1059817. PMID 11292862.
• Taylor MS (2001). "Characterization and comparative analysis of the EGLN gene family". Gene. 275 (1): 125–32. doi:10.1016/S0378-1119(01)00633-3. PMID 11574160.
• Epstein AC, Gleadle JM, McNeill LA, et al. (2001). "C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation". Cell. 107 (1): 43–54. doi:10.1016/S0092-8674(01)00507-4. PMID 11595184.
• Bruick RK, McKnight SL (2001). "A conserved family of prolyl-4-hydroxylases that modify HIF". Science. 294 (5545): 1337–40. Bibcode:2001Sci...294.1337B. doi:10.1126/science.1066373. PMID 11598268.
• Seth P, Krop I, Porter D, Polyak K (2002). "Novel estrogen and tamoxifen induced genes identified by SAGE (Serial Analysis of Gene Expression)". Oncogene. 21 (5): 836–43. doi:10.1038/sj.onc.1205113. PMID 11850811.
• Min JH, Yang H, Ivan M, et al. (2002). "Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling". Science. 296 (5574): 1886–9. Bibcode:2002Sci...296.1886M. doi:10.1126/science.1073440. PMID 12004076.
• McNeill LA, Hewitson KS, Gleadle JM, et al. (2002). "The use of dioxygen by HIF prolyl hydroxylase (PHD1)". Bioorg. Med. Chem. Lett. 12 (12): 1547–50. doi:10.1016/S0960-894X(02)00219-6. PMID 12039559.
• Oehme F, Ellinghaus P, Kolkhof P, et al. (2002). "Overexpression of PH-4, a novel putative proline 4-hydroxylase, modulates activity of hypoxia-inducible transcription factors". Biochem. Biophys. Res. Commun. 296 (2): 343–9. doi:10.1016/S0006-291X(02)00862-8. PMID 12163023.
• Ivan M, Haberberger T, Gervasi DC, et al. (2002). "Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor". Proc. Natl. Acad. Sci. U.S.A. 99 (21): 13459–64. Bibcode:2002PNAS...9913459I. doi:10.1073/pnas.192342099. PMC 129695. PMID 12351678.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Metzen E, Berchner-Pfannschmidt U, Stengel P, et al. (2003). "Intracellular localisation of human HIF-1 alpha hydroxylases: implications for oxygen sensing". J. Cell Sci. 116 (Pt 7): 1319–26. doi:10.1242/jcs.00318. PMID 12615973.
• Cioffi CL, Liu XQ, Kosinski PA, et al. (2003). "Differential regulation of HIF-1 alpha prolyl-4-hydroxylase genes by hypoxia in human cardiovascular cells". Biochem. Biophys. Res. Commun. 303 (3): 947–53. doi:10.1016/S0006-291X(03)00453-4. PMID 12670503.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Aprelikova O, Chandramouli GV, Wood M, et al. (2004). "Regulation of HIF prolyl hydroxylases by hypoxia-inducible factors". J. Cell. Biochem. 92 (3): 491–501. doi:10.1002/jcb.20067. PMID 15156561.
• Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.