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EGLN2 Gene

protein-coding   GIFtS: 61
GCID: GC19P041304

Egl-9 Family Hypoxia-Inducible Factor 2

(Previous names: EGL nine (C.elegans) homolog 2, egl nine homolog 2 (C. elegans))
  See EGLN2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Egl-9 Family Hypoxia-Inducible Factor 21 2     HIF-Prolyl Hydroxylase 12 3
PHD12 3 5     HIFPH12 5
Estrogen-Induced Tag 62 3     EGL Nine (C.Elegans) Homolog 21
Hypoxia-Inducible Factor Prolyl Hydroxylase 12 3     Egl Nine Homolog 2 (C. Elegans)1
Prolyl Hydroxylase Domain-Containing Protein 12 3     HIF Prolyl Hydroxylase 11
EIT62 3     Egl Nine Homolog 22
HIF-PH12 3     EC 1.14.11.293
HPH-12 3     EC 1.14.118
HPH-32 3     

External Ids:    HGNC: 146601   Entrez Gene: 1123982   Ensembl: ENSG000002698587   OMIM: 6064245   UniProtKB: Q96KS03   

Export aliases for EGLN2 gene to outside databases

Previous GC identifers: GC19P041944 GC19P041696 GC19P045981 GC19P045996 GC19P041305 GC19P037738


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include ferrous iron binding and L-ascorbic acid binding. An important paralog of this gene is EGLN3.

UniProtKB/Swiss-Prot: EGLN2_HUMAN, Q96KS0
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

Gene Wiki entry for EGLN2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the EGLN2 gene promoter:
         AP-1   p300   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EGLN2 promoter sequence
   Search Chromatin IP Primers for EGLN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EGLN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

EGLN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EGLN2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P041304:  view genomic region     (about GC identifiers)

Start:
41,304,901 bp from pter      End:
41,314,346 bp from pter
Size:
9,446 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EGLN2_HUMAN, Q96KS0 (See protein sequence)
Recommended Name: Egl nine homolog 2  
Size: 407 amino acids; 43650 Da
Cofactor: Binds 1 Fe(2+) ion per subunit
Cofactor: Ascorbate
Subunit: Interacts (preferably isoform p40) with SIAH2; the interaction targets both SIAH2 isoforms for
proteasomal degradation in vitro. Interacts with LIMD1, WTIP and AJUBA
Sequence caution: Sequence=AAH01723.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K5S0 Q8WWY4 Q9BV14
Alternative initiation: 2 isoforms:  Q96KS0-1   Q96KS0-2   

Explore the universe of human proteins at neXtProt for EGLN2: NX_Q96KS0

Explore proteomics data for EGLN2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for EGLN2 (Q96KS0)
     TVWYFDA  GYVRHVDNP  GDGRCITCIYYLN  INGRTKAMVACYPGNG 


    See EGLN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_444274.1  NP_542770.2  

    ENSEMBL proteins: 
     ENSP00000471568   ENSP00000307080   ENSP00000471546   ENSP00000385253   ENSP00000469686  
     ENSP00000470968   ENSP00000472146   ENSP00000469323   ENSP00000469272   ENSP00000472870  
     ENSP00000472991   ENSP00000472414   ENSP00000471944   ENSP00000471740  
    Reactome Protein details: Q96KS0

    EGLN2 Human Recombinant Protein Products:

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    Novus Biologicals EGLN2 Protein
    Novus Biologicals EGLN2 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EGLN2

     
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    antibodies-online proteins for EGLN2 (4 products) 

     
    antibodies-online peptides for EGLN2

    EGLN2 Antibody Products:

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    EGLN2 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR006620 Pro_4_hyd_alph
     IPR005123 Oxoglu/Fe-dep_dioxygenase

    Graphical View of Domain Structure for InterPro Entry Q96KS0

    ProtoNet protein and cluster: Q96KS0

    UniProtKB/Swiss-Prot: EGLN2_HUMAN, Q96KS0
    Domain: The Beta(2)beta(3) 'finger-like' loop domain is important for substrate (HIFs' CODD/NODD) selectivity (By
    similarity)
    Similarity: Contains 1 Fe2OG dioxygenase domain


    Find genes that share domains with EGLN2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EGLN2_HUMAN, Q96KS0
    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
    Catalytic activity: Hypoxia-inducible factor-L-proline + 2-oxoglutarate + O(2) = hypoxia-inducible
    factor-trans-4-hydroxy-L-proline + succinate + CO(2)
    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): EC 1.14.112 EC 1.14.11.291

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding ----
    GO:0005515protein binding IPI16511565
    GO:0008198ferrous iron binding NAS12039559
    GO:0016491oxidoreductase activity ----
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
         
    Find genes that share ontologies with EGLN2           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for EGLN2:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Increased HPV18 LCR reporter a 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Egln2):
     cardiovascular system  cellular  craniofacial  embryogenesis  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 
     muscle  reproductive system 

    Find genes that share phenotypes with EGLN2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for EGLN2: Egln2tm1Fong Egln2tm1Pec

       genOway: Develop your customized and physiologically relevant rodent model for EGLN2

    miRNA
    Products:
        
    miRTarBase miRNAs that target EGLN2:
    hsa-mir-16-5p (MIRT051206), hsa-mir-92a-3p (MIRT049430)

    Block miRNA regulation of human, mouse, rat EGLN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EGLN2 (see all 36):
    hsa-miR-3194-5p hsa-let-7d hsa-miR-15a hsa-miR-765 hsa-miR-578 hsa-miR-3921 hsa-let-7g hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidEGLN2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat EGLN2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): EGLN2 (NM_053046)
    Sino Biological Human cDNA Clone for EGLN2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EGLN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EGLN2
    Addgene plasmids for EGLN2 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EGLN2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EGLN2_HUMAN, Q96KS0: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005829cytosol IEA--

    Find genes that share ontologies with EGLN2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EGLN2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen1.00
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha0.00
    Cellular response to hypoxia1.00
    2Cellular Senescence
    Cellular responses to stress0.81
    3Renal cell carcinoma
    Renal cell carcinoma
    4Pathways in cancer
    Pathways in cancer
    5HIF1Alpha Pathway
    HIF1Alpha Pathway


    Find genes that share SuperPaths with EGLN2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for EGLN2
        HIF1Alpha Pathway

    1 BioSystems Pathway for EGLN2
        HIF-2-alpha transcription factor network


    1 Reactome Pathway for EGLN2
        Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha


    3 Kegg Pathways  (Kegg details for EGLN2):
        HIF-1 signaling pathway
    Pathways in cancer
    Renal cell carcinoma

        Pathway & Disease-focused RT2 Profiler PCR Array including EGLN2: 
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for EGLN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EGLN2 (Q96KS01, 2, 3 ENSP000003070804) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MOB4Q9Y3A32, 3, ENSP000003157024MINT-65838 I2D: score=4 STRING: ENSP00000315702
    HIF1AQ166651, 2, 3, ENSP000003380184EBI-726614,EBI-447269 MINT-50605 MINT-1957493 I2D: score=4 STRING: ENSP00000338018
    EPAS1Q998143, ENSP000002637344I2D: score=2 STRING: ENSP00000263734
    EGLN3Q9H6Z93, ENSP000002504574I2D: score=1 STRING: ENSP00000250457
    HIF3AQ9Y2N73, ENSP000003668984I2D: score=1 STRING: ENSP00000366898
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth NAS11850811
    GO:0001666response to hypoxia IDA11595184
    GO:0018401peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA11598268
    GO:0030520intracellular estrogen receptor signaling pathway NAS11850811
    GO:0043523regulation of neuron apoptotic process IMP19587290

    Find genes that share ontologies with EGLN2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EGLN2

    3 HMDB Compounds for EGLN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    Hydroxyproline(2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid (see all 21)51-35-4--
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--

    1 DrugBank Compound for EGLN2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin CAscorbate (see all 6)50-81-7target--17627521 17627474

    5 Novoseek inferred chemical compound relationships for EGLN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-ketoglutarate 74.9 2 16565084 (1)
    proline 60.7 4 12670503 (1), 16139409 (1), 12181324 (1), 16024780 (1)
    oxygen 49.5 10 18927305 (2), 16139409 (1), 18252725 (1), 18952043 (1) (see all 8)
    vegf 28.6 4 17189520 (1), 19844231 (1), 19724277 (1), 16278385 (1)
    iron 23.5 4 19587290 (2), 16139409 (1)



    Find genes that share compounds with EGLN2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EGLN2 gene (3 alternative transcripts): 
    NM_053046.3  NM_080732.3  NM_017555.1  

    Unigene Cluster for EGLN2:

    Egl nine homolog 2 (C. elegans)
    Hs.515417  [show with all ESTs]
    Unigene Representative Sequence: AK098182
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598654 ENST00000303961(uc002opg.4) ENST00000593972 ENST00000406058(uc010ehd.3 uc002oph.3 uc002opi.3)
    ENST00000593726 ENST00000594380 ENST00000593397 ENST00000601733 ENST00000593525
    ENST00000596517 ENST00000597746 ENST00000594140 ENST00000599579 ENST00000593445
    ENST00000593477 ENST00000602166 ENST00000595621 ENST00000595051
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    Addgene plasmids for EGLN2 
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      QuantiTect SYBR Green Assays in human, mouse, rat EGLN2
      QuantiFast Probe-based Assays in human, mouse, rat EGLN2

    Additional mRNA sequence: 

    AJ310544.1 AK025396.1 AK074408.1 AK098182.1 AL832506.1 AY040565.1 BC001723.1 BC036051.1 

    Selected DOTS entries (see all 27):

    DT.92441133  DT.319170  DT.80101241  DT.100797609  DT.121503438  DT.100797605  DT.121503399  DT.40107736 
    DT.121503431  DT.121503467  DT.100734329  DT.97850158  DT.91837365  DT.121503449  DT.121503474  DT.91920823 
    DT.95233260  DT.100797608  DT.121503477  DT.92441136  DT.95233206  DT.95233266  DT.102836901  DT.121503367 

    Selected AceView cDNA sequences (see all 536):

    AI570301 AI357897 BQ052246 CR623538 AW589678 AA382947 BQ689426 BU157872 
    BU849189 AW298262 BE501221 CB126712 CA748506 BM423651 BM559500 CA426400 
    AA366038 BQ690575 BQ706107 AI110596 AW167542 AK098182 AI479073 BQ574998 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EGLN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTGTGGAAG
    EGLN2 Expression
    About this image


    EGLN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)
             Ureteric Bud Cells Ureteric Bud
     
     Testis (Reproductive System)
    EGLN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EGLN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515417

    UniProtKB/Swiss-Prot: EGLN2_HUMAN, Q96KS0
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including EGLN2: 
              Hypoxia Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for EGLN2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Egln21 , 5 EGL nine homolog 2 (C. elegans)1, 5 88.48(n)1
    90.86(a)1
      7 (15.83 cM)5
    1124061  NM_053208.41  NP_444438.21 
     271586585 
    lizard
    (Anolis carolinensis)
    Reptilia EGLN26
    egl-9 family hypoxia-inducible factor 2
    72(a)
    1 ↔ 1
    LGf(2876578-2893177)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.320752 Xenopus laevis transcribed sequence with moderate similarity more 75.94(n)    BX845672.1 
    zebrafish
    (Danio rerio)
    Actinopterygii egln26
    egl nine homolog 2 (C. elegans)
    41(a)
    1 ↔ 1
    15(8410022-8457419) ENSDARG00000062562
    fruit fly
    (Drosophila melanogaster)
    Insecta Hph6
    HIF prolyl hydroxylase
    27(a)
    1 → many
    3R(1082763-1094197)
    worm
    (Caenorhabditis elegans)
    Secernentea egl-96
    Protein EGL-9, isoform a (egl-9) mRNA, complete cd...
    14(a)
    1 → many
    V(10468411-10476952) WBGene00001178


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EGLN2 gene
    EGLN32  EGLN12  
    2 SIMAP similar genes for EGLN2 using alignment to 12 protein entries:     EGLN2_HUMAN (see all proteins):
    EGLN3    EGLN1

    Find genes that share paralogs with EGLN2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EGLN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833832CNV Loss17160897
    nsv521459CNV Loss19592680
    dgv1084e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): EGLN2
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606424    OMIM disorders: --

    5 diseases for EGLN2:    
    About MalaCards
    hypoxia    renal oncocytoma    phaeochromocytoma    pancreatic endocrine tumors
    pre-eclampsia

    1 disease from the University of Copenhagen DISEASES database for EGLN2:
    Autoimmune polyendocrine syndrome

    Find genes that share disorders with EGLN2           About GenesLikeMe

    1 Novoseek inferred disease relationship for EGLN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 21.2 5 18927305 (2), 16324198 (1), 17683079 (1)

    Genetic Association Database (GAD): EGLN2
    Human Genome Epidemiology (HuGE) Navigator: EGLN2 (2 documents)

    Export disorders for EGLN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EGLN2 gene, integrated from 10 sources (see all 104):
    (articles sorted by number of sources associating them with EGLN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Role of the intracellular localization of HIF-prolyl hydroxylases. (PubMed id 19339211)1, 2, 9 Yasumoto K.... Sogawa K. (Biochim. Biophys. Acta 2009)
    2. Cellular oxygen sensing: Importins and exportins are mediators of intracellular localisation of prolyl-4-hydroxylases PHD1 and PHD2. (PubMed id 19631610)1, 2, 9 Steinhoff A.... Depping R. (Biochem. Biophys. Res. Commun. 2009)
    3. Characterization of different isoforms of the HIF prolyl hydroxylase PHD1 generated by alternative initiation. (PubMed id 16509823)1, 2, 9 Tian Y.M.... Gleadle J.M. (Biochem. J. 2006)
    4. Prolyl hydroxylase-1 negatively regulates IkappaB kinase-beta, giving insight into hypoxia-induced NFkappaB activity. (PubMed id 17114296)1, 2, 9 Cummins E.P....Taylor C.T. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    5. Intracellular localisation of human HIF-1 alpha hydroxylases: implications for oxygen sensing. (PubMed id 12615973)1, 2, 9 Metzen E.... Fandrey J. (J. Cell Sci. 2003)
    6. Differential function of the prolyl hydroxylases PHD1, PHD2, and PHD3 in the regulation of hypoxia-inducible factor. (PubMed id 15247232)1, 2, 9 Appelhoff R.J.... Gleadle J.M. (J. Biol. Chem. 2004)
    7. PHD1 links cell-cycle progression to oxygen sensing through hydroxylation of the centrosomal protein Cep192. (PubMed id 23932902)1, 2 Moser S.C.... Rocha S. (Dev. Cell 2013)
    8. The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity. (PubMed id 22286099)1, 2 Foxler D.E.... Sharp T.V. (Nat. Cell Biol. 2012)
    9. Genome-wide meta-analyses identify multiple loci associated with smoking behavior. (PubMed id 20418890)1, 4 (Nat. Genet. 2010)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 112398 HGNC: 14660 AceView: EGLN2andCYP2B7 Ensembl:ENSG00000269858 euGenes: HUgn112398
    ECgene: EGLN2 Kegg: 112398 H-InvDB: EGLN2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EGLN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EGLN2 gene:
    Search GeneIP for patents involving EGLN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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