EGLN2

Protein-coding gene in the species Homo sapiens
EGLN2
Identifiers
AliasesEGLN2, EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1, egl-9 family hypoxia inducible factor 2, EIT-6
External IDsOMIM: 606424; MGI: 1932287; HomoloGene: 14204; GeneCards: EGLN2; OMA:EGLN2 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for EGLN2
Genomic location for EGLN2
Band19q13.2Start40,798,996 bp[1]
End40,808,434 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for EGLN2
Genomic location for EGLN2
Band7 A3|7 15.83 cMStart26,858,083 bp[2]
End26,866,227 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • blood

  • spleen

  • right lung

  • upper lobe of left lung

  • putamen

  • myometrium

  • right lobe of thyroid gland

  • nucleus accumbens

  • hippocampus proper

  • caudate nucleus
Top expressed in
  • seminiferous tubule

  • entorhinal cortex

  • spermatid

  • Paneth cell

  • crypt of lieberkuhn of small intestine

  • extensor digitorum longus muscle

  • spermatocyte

  • gallbladder

  • plantaris muscle

  • triceps brachii muscle
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 sensor 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
SpeciesHumanMouse
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 MbChr 7: 26.86 – 26.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Egl nine homolog 2 is a protein that in humans is encoded by the EGLN2 gene.[5] ELGN2 is an 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.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000269858 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058709 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: EGLN2 egl nine homolog 2 (C. elegans)".

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. S2CID 14922615.
  • 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. S2CID 20914281.
  • 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. S2CID 33725562.
  • 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. S2CID 18372306.
  • 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. S2CID 9695199.
  • 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. S2CID 19641938.
  • 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. Bibcode:2002PNAS...9916899M. 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. S2CID 24455956.
  • 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.
  • v
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1.14.11: 2-oxoglutarate1.14.13: NADH or NADPH1.14.14: reduced flavin or flavoprotein1.14.15: reduced iron–sulfur protein1.14.16: reduced pteridine (BH4 dependent)1.14.17: reduced ascorbate1.14.18-19: other1.14.99 - miscellaneous
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