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Aliases for EGLN2 Gene

Aliases for EGLN2 Gene

  • Egl-9 Family Hypoxia-Inducible Factor 2 2 3
  • PHD1 3 4 6
  • Prolyl Hydroxylase Domain-Containing Protein 1 3 4
  • Hypoxia-Inducible Factor Prolyl Hydroxylase 1 3 4
  • HIF-Prolyl Hydroxylase 1 3 4
  • Estrogen-Induced Tag 6 3 4
  • HIF-PH1 3 4
  • HIFPH1 3 6
  • HPH-1 3 4
  • HPH-3 3 4
  • EIT6 3 4
  • Egl Nine Homolog 2 (C. Elegans) 2
  • EGL Nine (C.Elegans) Homolog 2 2
  • HIF Prolyl Hydroxylase 1 2
  • Egl Nine Homolog 2 3
  • EC 1.14.11.29 4
  • EC 1.14.11 63

External Ids for EGLN2 Gene

Summaries for EGLN2 Gene

Entrez Gene Summary for EGLN2 Gene

  • The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]

GeneCards Summary for EGLN2 Gene

EGLN2 (Egl-9 Family Hypoxia-Inducible Factor 2) is a Protein Coding gene. Diseases associated with EGLN2 include hypoxia and renal oncocytoma. Among its related pathways are Pathways in cancer and Cellular Senescence. GO annotations related to this gene include L-ascorbic acid binding and ferrous iron binding. An important paralog of this gene is EGLN3.

UniProtKB/Swiss-Prot for EGLN2 Gene

  • 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 critical centrosome component CEP192 which promotes its ubiquitination and subsequent proteasomal degradation. Hydroxylates IKBKB, mediating NF-kappaB activation in hypoxic conditions. Target proteins are preferencially recognized via a LXXLAP motif.

Gene Wiki entry for EGLN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EGLN2 Gene

Genomics for EGLN2 Gene

Genomic Location for EGLN2 Gene

Start:
40,798,996 bp from pter
End:
40,808,441 bp from pter
Size:
9,446 bases
Orientation:
Plus strand

Genomic View for EGLN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EGLN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EGLN2 Gene

Regulatory Elements for EGLN2 Gene

Transcription factor binding sites by QIAGEN in the EGLN2 gene promoter:

Proteins for EGLN2 Gene

  • Protein details for EGLN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KS0-EGLN2_HUMAN
    Recommended name:
    Egl nine homolog 2
    Protein Accession:
    Q96KS0
    Secondary Accessions:
    • A8K5S0
    • Q8WWY4
    • Q9BV14

    Protein attributes for EGLN2 Gene

    Size:
    407 amino acids
    Molecular mass:
    43650 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Note=Binds 1 Fe(2+) ion per subunit.;
    Cofactor:
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    • Interacts (preferably isoform p40) with SIAH2; the interaction targets both SIAH2 isoforms for proteasomal degradation in vitro. Interacts with LIMD1, WTIP and AJUBA.
    SequenceCaution:
    • Sequence=AAH01723.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for EGLN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EGLN2 Gene

Proteomics data for EGLN2 Gene at MOPED

Selected DME Specific Peptides for EGLN2 Gene

Post-translational modifications for EGLN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for EGLN2 Gene

Protein Domains for EGLN2 Gene

Suggested Antigen Peptide Sequences for EGLN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96KS0

UniProtKB/Swiss-Prot:

EGLN2_HUMAN
Domain:
  • The Beta(2)beta(3) finger-like loop domain is important for substrate (HIFs CODD/NODD) selectivity.:
    • Q96KS0
  • Contains 1 Fe2OG dioxygenase domain.:
    • Q96KS0
genes like me logo Genes that share domains with EGLN2: view

No data available for Gene Families for EGLN2 Gene

Function for EGLN2 Gene

Molecular function for EGLN2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Hypoxia-inducible factor-L-proline + 2-oxoglutarate + O(2) = hypoxia-inducible factor-trans-4-hydroxy-L-proline + succinate + CO(2)
UniProtKB/Swiss-Prot 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 critical centrosome component CEP192 which promotes its ubiquitination and subsequent proteasomal degradation. Hydroxylates IKBKB, mediating NF-kappaB activation in hypoxic conditions. Target proteins are preferencially recognized via a LXXLAP motif.
UniProtKB/Swiss-Prot Induction: By estrogen. Isoform p43 is induced by hypoxia leading to protein stability. Isoform p40 repressed by hypoxia. Both isoforms are induced by proteasomal inhibitor MG132 (at protein level).

Enzyme Numbers (IUBMB) for EGLN2 Gene

Gene Ontology (GO) - Molecular Function for EGLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding --
GO:0005515 protein binding IPI 16511565
GO:0008198 ferrous iron binding NAS 12039559
GO:0016491 oxidoreductase activity --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
genes like me logo Genes that share ontologies with EGLN2: view
genes like me logo Genes that share phenotypes with EGLN2: view

Animal Models for EGLN2 Gene

MGI Knock Outs for EGLN2:

miRNA for EGLN2 Gene

miRTarBase miRNAs that target EGLN2

No data available for Transcription Factor Targeting and HOMER Transcription for EGLN2 Gene

Localization for EGLN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EGLN2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EGLN2 Gene COMPARTMENTS Subcellular localization image for EGLN2 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for EGLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with EGLN2: view

Pathways for EGLN2 Gene

genes like me logo Genes that share pathways with EGLN2: view

Gene Ontology (GO) - Biological Process for EGLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth NAS 11850811
GO:0001666 response to hypoxia IDA 11595184
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA 11598268
GO:0030520 intracellular estrogen receptor signaling pathway NAS 11850811
GO:0043523 regulation of neuron apoptotic process IMP 19587290
genes like me logo Genes that share ontologies with EGLN2: view

Compounds for EGLN2 Gene

(3) HMDB Compounds for EGLN2 Gene

Compound Synonyms Cas Number PubMed IDs
Ascorbic acid
  • (+)-ascorbate
50-81-7
Hydroxyproline
  • (2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid
51-35-4
L-Proline
  • (-)-(S)-Proline
147-85-3

(1) Drugbank Compounds for EGLN2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Vitamin C
  • Ascorbate
50-81-7 target

(5) Novoseek inferred chemical compound relationships for EGLN2 Gene

Compound -log(P) Hits PubMed IDs
alpha-ketoglutarate 74.9 1
proline 60.7 4
oxygen 49.5 9
vegf 28.6 4
iron 23.5 3
genes like me logo Genes that share compounds with EGLN2: view

Transcripts for EGLN2 Gene

Unigene Clusters for EGLN2 Gene

Egl nine homolog 2 (C. elegans):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EGLN2 Gene

No ASD Table

Relevant External Links for EGLN2 Gene

GeneLoc Exon Structure for
EGLN2
ECgene alternative splicing isoforms for
EGLN2

Expression for EGLN2 Gene

mRNA expression in normal human tissues for EGLN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EGLN2 Gene

This gene is overexpressed in Whole Blood (5.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EGLN2 Gene

SOURCE GeneReport for Unigene cluster for EGLN2 Gene Hs.515417

mRNA Expression by UniProt/SwissProt for EGLN2 Gene

Q96KS0-EGLN2_HUMAN
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.
genes like me logo Genes that share expressions with EGLN2: view

Orthologs for EGLN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EGLN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EGLN2 35
  • 99.84 (n)
  • 100 (a)
EGLN2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EGLN2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EGLN2 35
  • 89.47 (n)
  • 93.83 (a)
EGLN2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Egln2 35
  • 88.48 (n)
  • 90.86 (a)
Egln2 16
Egln2 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EGLN2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EGLN2 36
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Egln2 35
  • 88.89 (n)
  • 91.36 (a)
lizard
(Anolis carolinensis)
Reptilia EGLN2 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32075 35
tropical clawed frog
(Silurana tropicalis)
Amphibia egln2 35
  • 64.94 (n)
  • 69.66 (a)
zebrafish
(Danio rerio)
Actinopterygii egln2 36
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hph 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea egl-9 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToMany
Species with no ortholog for EGLN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EGLN2 Gene

ENSEMBL:
Gene Tree for EGLN2 (if available)
TreeFam:
Gene Tree for EGLN2 (if available)

Paralogs for EGLN2 Gene

Paralogs for EGLN2 Gene

genes like me logo Genes that share paralogs with EGLN2: view

Variants for EGLN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for EGLN2 Gene

Variant ID Type Subtype PubMed ID
nsv833832 CNV Loss 17160897
dgv1084e1 CNV Complex 17122850
nsv521459 CNV Loss 19592680

Relevant External Links for EGLN2 Gene

HapMap Linkage Disequilibrium report
EGLN2
Human Gene Mutation Database (HGMD)
EGLN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for EGLN2 Gene

Disorders for EGLN2 Gene

(1) University of Copenhagen DISEASES for EGLN2 Gene

(1) Novoseek inferred disease relationships for EGLN2 Gene

Disease -log(P) Hits PubMed IDs
tumors 21.2 4

Relevant External Links for EGLN2

Genetic Association Database (GAD)
EGLN2
Human Genome Epidemiology (HuGE) Navigator
EGLN2
genes like me logo Genes that share disorders with EGLN2: view

No data available for UniProtKB/Swiss-Prot for EGLN2 Gene

Publications for EGLN2 Gene

  1. Intracellular localisation of human HIF-1 alpha hydroxylases: implications for oxygen sensing. (PMID: 12615973) Metzen E. … Fandrey J. (J. Cell Sci. 2003) 3 4 23
  2. Differential function of the prolyl hydroxylases PHD1, PHD2, and PHD3 in the regulation of hypoxia-inducible factor. (PMID: 15247232) Appelhoff R.J. … Gleadle J.M. (J. Biol. Chem. 2004) 3 4 23
  3. Prolyl hydroxylase-1 negatively regulates IkappaB kinase-beta, giving insight into hypoxia-induced NFkappaB activity. (PMID: 17114296) Cummins E.P. … Taylor C.T. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 23
  4. Characterization of different isoforms of the HIF prolyl hydroxylase PHD1 generated by alternative initiation. (PMID: 16509823) Tian Y.M. … Gleadle J.M. (Biochem. J. 2006) 3 4 23
  5. Cellular oxygen sensing: Importins and exportins are mediators of intracellular localisation of prolyl-4-hydroxylases PHD1 and PHD2. (PMID: 19631610) Steinhoff A. … Depping R. (Biochem. Biophys. Res. Commun. 2009) 3 4 23

Products for EGLN2 Gene

  • Addgene plasmids for EGLN2

Sources for EGLN2 Gene

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